Identification Number:
DI 23022 TN 30
Intended Audience:See Transmittal Sheet
Originating Office:ORDP ODP
Title:Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)
Type:POMS Transmittals
Program:All Programs
Link To Reference:
 

PROGRAM OPERATIONS MANUAL SYSTEM
Part DI – Disability Insurance
Chapter 230 – Special Issues
Subchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)
Transmittal No. 30, 08/20/2020

Audience

PSC: CS, DEC, DTE, IES, RECONR;
OCO-OEIO: CR, ERE, FCR, FDE, RECONE;
OCO-ODO: DE, DEC, DS, RECONE;
ODD-DDS: ADJ, DHU;

Originating Component

ODP

Effective Date

Upon Receipt

Background

This is a CAL/QAT - no IRD or AC approval needed. (AO 40305.011).

 

Summary of Changes

DI 23022.665 Aicardi--Goutieres Syndrome

  • Updated "Description" section by removing physical signs and symptoms listed to the "Physical Findings";

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Updated "Physical Findings" by formatting to be consistent with other DI 23022 POMS; and

  • Added ICD-10 coding information.

DI 23022.675 Alpers Disease

  • Updated "Description" section by removing physical signs and symptoms listed to the "Physical Findings";

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Updated "Physical Findings" by formatting to be consistent with other DI 23022 POMS; and

  • Added ICD-10 coding information.

DI 23022.680 Alpha Mannosidosis--Type II and III

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM; and

  • Added ICD-10 coding information

DI 23022.690 Cerebrotendinous Xanthomatosis

  • Updated formatting of "Diagnostic Testing" sections to be consistent with other DI 23022 POMS;

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Added ICD-10 coding information

DI 23022.785 Juvenile Onset Huntington Disease

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM; and

  • Added ICD-10 coding information.

DI 23022.790 Kufs Disease --Type A and B

  • Updated "Description" section by removing physical signs and symptoms listed to the "Physical Findings";

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Updated "Physical Findings" by formatting to be consistent with other DI 23022 POMS; and

  • Added ICD-10 coding information.

DI 23022.795 Lissencephaly

  • Deleted physical signs and symptoms from the "Description" section and moving them to the "Physical Findings" section;

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Updated "Diagnostic Testing" by formatting to be consistent with other DI 23022 POMS;

  • Updated "Physical Findings" by formatting to be consistent with other DI 23022 POMS; and

  • Added ICD-10 coding information.

DI 23022.830 Myoclonic Epilepsy with Ragged Red Fibers Syndrome

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM; and

  • Added ICD-10 coding information.

DI 23022.836 Neurodegeneration with Brain Iron Accumulation - Type 1 and 2

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM; and

  • Added ICD-10 coding information.

DI 23022.845 Ohtahara Syndrome

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM; and

  • Added ICD-10 coding information.

DI 23022.850 Orthochromatic Leukodystrophy with Pigmented Glia

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Defined terms in "Physical findings" section; and

  • Added ICD-10 coding information.

DI 23022.860 Pelizaeus-Merzbacher Disease--Classic Form

  • Updated hyperlink for Connatal PMD;

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Defined terms in "Physical findings" section; and

  • Added ICD-10 coding information.

DI 23022.865 Pelizaeus-Merzbacher Disease--Connatal Form

  • Updated hyperlink for Classic PMD;

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Defined terms in "Physical findings" section; and

  • Added ICD-10 coding information.

DI 23022.875 Perry Syndrome

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Updated "Physical Findings" by formatting to be consistent with other DI 23022 POMS;

  • Updated language describing physical findings in the "Physical Findings" section;

  • Defined terms in "Physical findings" section; and

  • Added ICD-10 coding information.

DI 23022.905 Stiff Person Syndrome

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM; and

  • Added ICD-10 coding information.

DI 23022.910 Tabes Dorsalis

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Defined terms in "Physical findings" section; and

  • Added ICD-10 coding information.

DI 23022.923 Adult Onset Huntington Disease

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM; and

  • Added ICD-10 coding information.

DI 23022.925 Allan-Herndon-Dudley Syndrome

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM; and

  • Added ICD-10 coding information.

DI 23022.935 Caudal Regression Syndrome - Types III and IV

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM; and

  • Added ICD-10 coding information.

DI 23022.941 De Sanctis Cacchione Syndrome

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Defined terms in "Physical findings" section; and

  • Added ICD-10 coding information.

DI 23022.949 Fatal Familial Insomnia

  • Provided acroynm for electroencephalography (EEG) in "Diagnostic testing" section;

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM; and

  • Added ICD-10 coding information.

DI 23022.967 MECP2 Duplication Syndrome

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Updated the "Physical findings" section; and

  • Added ICD-10 coding information.

DI 23022.973 Nonketotic Hyperglycinemia

  • Deleted physical signs and symptoms from the "Description" section and moving them to the "Physical Findings" section;

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Updated "Physical Findings" by formatting to be consistent with other DI 23022 POMS; and

  • Added ICD-10 coding information.

DI 23022.977 Phelan-Mcdermid Syndrome

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Updated the "Physical findings" section; and

  • Added ICD-10 coding information.

DI 23022.981 Roberts Syndrome

  • Updated the "Diagnostic Testing, Physical Findings, and ICD-9-CM Coding" heading to include ICD-10-CM;

  • Defined terms in "Physical findings" section; and

  • Added ICD-10 coding information.

 

DI 23022.665 Aicardi--Goutieres Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

AICARDI-GOUTIERES SYNDROME

ALTERNATE NAMES

AGS; Aicardi Goutieres Syndrome; Cree Encephalitis; Encephalopathy with Basal Ganglia Calcification; Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis; Pseudotoxoplasmosis Syndrome; Pseudo-TORCH Syndrome

DESCRIPTION

Aicardi-Goutieres Syndrome (AGS) is a rare genetic neurodevelopmental disorder characterized by encephalopathy (brain dysfunction) that affects newborn infants and usually results in mental and physical disability. The severe early-onset form affects approximately 20 percent of infants born with AGS and is usually fatal within the first few months of life.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : The diagnosis of AGS is established by:

  • Reports of genetic testing of mutations in one of five known related genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C);

  • Head CT showing calcification of basal ganglia and white matter +/- atrophy; or

  • Magnetic resonance imaging (MRI) showing leukodystrophy.

Physical findings : The signs and symptoms of AGS may include:

  • Microcephaly;

  • Peripheral spasticity (weak or stiffened muscles) ;

  • Truncal hypotonia (decreased muscle tone);

  • Poor head control;

  • Dystonia (involuntary muscle contractions that cause repetitive or twisting movements);

  • Characteristic painful itchy, red skin lesions (chilblains) on hands, feet, and ears; and

  • Profound intellectual disabillity.

Children with the early-onset form of AGS may have:

  • Neurological deficits;

  • Hepatosplenomegaly (enlarged liver and spleen); and

  • Elevated liver enzymes that may mimic congenital viral infection.

Children with later-onset AGS begin having symptoms after the first weeks or monhs or normal development. Then, they may experience:

  • Moderate to severe developmental delay;

  • Seizures;

  • Extreme irritablity;

  • Inconsolable crying;

  • Intermittent fever;

  • Loss of developmental skills;

  • Visual impairment; and

  • Joint stiffness.

ICD-9: 348.9

ICD-10: G31.8

PROGRESSION

The prognosis of AGS depends upon the severity of symptoms and signs, and the age of onset.

TREATMENT

Currently there is not cure for AGS. Treatment is symptom-specific and supportive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging studies such as MRI/CT brain scans documenting brain abnormalities;

  • Molecular genetic studies and cerebrospinal fluid analysis; and

  • EEG results (if history suggests seizures).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

111.02

111.17

112.02

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.675 Alpers Disease

COMPASSIONATE ALLOWANCE INFORMATION

ALPERS DISEASE

ALTERNATE NAMES

Alpers Syndrome; Alpers Progressive Infantile Poliodystrophy; Progressive Sclerosing Poliodystrophy; Progressive Cerebral Poliodystrophy; Diffuse Cerebral Sclerosis of Schilder

DESCRIPTION

Alpers disease is a progressive, neurodevelopmental syndrome characterized by psychomotor regression (dementia), seizures, and liver disease. A mutation in the gene for the mitochondrial DNA polymerase POLG causes this disease. Most affected individuals do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms.  

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : The diagnosis is established by testing for the POLG gene.

Physical findings : The physical findings of Alpers disease may include:

  • Poor growth;

  • Hypoglycemia secondary to underlying liver disease;

  • Developmental delay;

  • Failure to thrive;

  • Infection-associated encephalopathy;

  • Increased muscle tone or abnormal movements;

  • Seizures;

  • Liver failure;

  • Gastrointesinal dysfunction;

  • Cardiomyopathy;

  • Regression;

  • Dementia;

  • Cortical blindness;

  • Spasticity;

  • Myoclonus;

  • Jaundice; or

  • Ascites.

ICD-9: 330.8

ICD-10: G31.81

PROGRESSION

About 80 percent of children with Alpers disease develop symptoms in the first two years of life, and the rest develop symptoms between the ages of 2 and 25.

The prognosis is poor, with death usually occurring within ten years after diagnosis due to liver failure, cardiorespiratory failure, or unremitting seizures.

TREATMENT

There is no cure for Alpers disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsant medications may be used to treat the seizures, with usually poor medical response. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the progression of neurological and cognitive decline from the claimant’s medical source(s);

  • EEG reports;

  • Laboratory tests consistent of hepatic failure; and

  • Activities of daily living report.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

111.02

 

111.17

112.02

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.680 Alpha Mannosidosis--Type II and III

COMPASSIONATE ALLOWANCE INFORMATION

ALPHA MANNOSIDOSIS--Type II and III

ALTERNATE NAMES

Alpha Mannosidosis Types II/III Early Onset Forms; Alpha-D- mannosidosis; Alpha-mannosidase B deficiency; Alpha-mannosidase deficiency; Lysosomal alpha B mannosidosis; Alpha B Lysosomal; Lysosomal alpha-D-mannosidase deficiency

DESCRIPTION

Alpha Mannosidosis is a rare inherited metabolic storage disease caused by a mutation in the gene for alpha-mannosidase, an enzyme that normally breaks down sugars (carbohydrates) in lysosomes. Because of the mutation, sugars abnormally accumulate and impair the function of cells in the brain and other organs.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : A confirmed diagnosis is documented by abnormally low or absent levels of alpha-D-mannosidase enzymatic activity in white blood cells.

Physical findings:

  • Cognitive and motor developmental delay or intellectual disability;

  • Hearing loss;

  • Hepatosplenomegaly (enlargement of the liver and spleen);

  • Long bone and joint abnormalities;

  • Immune dysfunction leading to frequent infections;

  • Ataxia;

  • Facial abnormalities (e.g. prominent forehead, jaw, and flattened nose);

  • Distinctive facial features which may include widely spaced or unevenly developed teeth;

  • Thickened, enlarged tongue (macroglossia);

  • Prominent forehead;

  • Flattened nasal bridge;

  • Protruding lower jaw (prognathism);

  • Strabismus or crossed eyes;

  • Clouding (opacity) of the transparent outer covering of the eye (cornea);

  • Farsightedness (hyperopia);

  • Nearsightedness (myopia); and

  • Spinal abnormalities

ICD-9: 278.8

ICD-10: E77.1

PROGRESSION

Type III alpha mannosidosis is the most severe form, and signs and symptoms appear in infancy with rapid progression, severe neurological deterioration, and early death. In Type II, symptoms appear before age 10, and progressive deterioration is not as rapid as in Type III. For children with Type I, symptoms appear after age 10 and progress slowly; affected children have muscle weakness but not skeletal abnormalities, and they may live well into adulthood.

TREATMENT

There is no cure or treatment to alter the progression of alpha-mannosidosis. There are, however, symptomatic treatments that are used. For example, anticonvulsants can help to control seizures. Hearing aids improve ability to hear and communicate. Physical therapy may improve motor function, and assistive devices can aid with mobility. New and promising therapies for alpha mannosidosis include bone marrow transplantation, enzyme replacement, and gene therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • Laboratory studies of alpha D-mannosidase enzymatic activity in white blood cells

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

 

112.02

Equals

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.690 Cerebrotendinous Xanthomatosis

COMPASSIONATE ALLOWANCE INFORMATION

CEREBROTENDINOUS XANTHOMATOSIS

ALTERNATE NAMES

CTX; Van Bogaert-Scherer-Epstein Disease; Xanthomatosis Cerebrotendinous; Cerebral Cholesterosis; Cerebrotendinous Cholesterinosis; Cholestanol Storage Disease; Cholestanolosis; Sterol 27-hydroxylase Deficiency

DESCRIPTION

Cerebrotendinous Xanthomatosis (CTX) is an inherited lipid storage disorder where the body lacks the enzyme to break down different forms of cholesterol, leading to lipid accumulation in all tissues in the central nervous system, as well as in the tendons, skin, lungs, and bones. Xanthomas (fatty yellow nodules) in the tendons begin to form in early adulthood. People with CTX are also at an increased risk of developing cardiovascular disease.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : The diagnosis of CTX is established by:

  • Clinical examination;

  • Molecular genetic testing for the CYP27A1 gene;

  • Biochemical testing;

  • High cholesterol concentration;

  • Normal-to-low plasma cholesterol concentration;

  • Decreased chenodeoxycholic acid;

  • Increased concentration of bile alcohols and glyconjugates; and

  • Increased concentrations of colestanol and apolipoprotein B in cerebrospinal fluid.

Physical findings:

  • Cataracts;

  • Xanthomas in the Achilles tendon, patella, elbow, hand, and neck tendons;

  • Cognitive impairments;

  • Dementia;

  • Spasticity;

  • Ataxia; and

  • Peripheral neuropathy.

ICD-9: 272.2

ICD-10: E75.5

PROGRESSION

Cataracts develop in childhood or adolescence, and xanthoma formation tends to develop in the second and third decades of life. Neurological impairments involving seizures, dementia, and involuntary reflexes and movement begin in the third decade of life and progress until death. The severity of CTX varies widely with the cause of death usually due to myocardial infarction and progressive mental deterioration.

TREATMENT

There is no current cure for CTX. Treatment focuses on the management of disease symptoms. Cataract extraction is typically required in at least one eye by the age of 50 years. Seizures, spasticity, and parkinsonism are treated symptomatically.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Laboratory studies of CYP27A1 gene activity; and

  • Imaging studies such as an MRI or CT scan of the brain showing diffuse atrophy in the cerebellum, basal ganglia, and cerebrum.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

 

12.02

111.17

112.02

Equals

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.785 Juvenile Onset Huntington Disease

COMPASSIONATE ALLOWANCE INFORMATION
JUVENILE ONSET HUNTINGTON DISEASE

ALTERNATE NAMES

Juvenile Huntington Disease; Huntington Disease Juvenile Onset; Juvenile HD; JHD; Early-Onset HD; Juvenile Onset HD; Juvenile Huntington Chorea

DESCRIPTION

Juvenile Onset Huntington Disease (JHD) is a form of Huntington disease (HD) that affects children and teenagers. Huntington disease is a hereditary neurodegenerative disorder that is characterized by progressively worsening motor, cognitive, behavioral, and psychiatric symptoms. JHD is caused by a mutation of the Huntington gene called a “CAG repeat expansion.” The mutation results in gradual neuronal degeneration in the basal ganglia of the brain, which is responsible for coordination of movements, thoughts, and emotions. As JHD progresses, other regions of the brain undergo neuronal degeneration with diffuse and severe brain atrophy that is comparable to late stage Alzheimer disease.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : The diagnosis of JHD is made by:

  • Clinical history documenting changes in motor, behavioral and cognitive function;

  • Family history of HD;

  • Abnormal neurologic exam findings;

  • Abnormal neuropsychological test results;

  • HD gene test with abnormal results; and

  • Brain imaging is optional, but if performed, may show atrophy of the caudate nucleus or (in very young children) the cerebellum, or diffuse brain atrophy.

Physical findings: Presentation of JHD may include:

  • Dystonia;

  • Tremors;

  • Muscle twitching (myoclonus);

  • Stiffness of the leg muscles;

  • Clumsiness;

  • Slurred speech; and

  • Swallowing problemss.

ICD-9: 333.4

ICD-10: G10

PROGRESSION

JHD usually has a more rapid progression rate than adult onset HD; the earlier the onset, the faster JHD progresses. Death often occurs within 10 years of JHD onset, as opposed to 10-25 years in adult onset HD.

TREATMENT

There is no cure or treatment to stop, slow or reverse the progression of JHD. Medications may be prescribed to manage symptoms. A child psychiatrist or behavior management specialist may address behavior disorders. A speech language pathologist may evaluate communication and swallowing problems. A nutritionist may be consulted to address nutritional needs as the disease progresses. Assistive devices such as wheelchairs, helmets, and communication boards may be used for safety, and to improve quality of life.

SUGGSESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Claimant’s medical source(s) records documenting progression of motor, cognitive, and psychiatric symptoms, family history, and abnormal neurological exam findings consistent with juvenile onset HD;

  • Laboratory testing showing a fully-penetrant CAG repeat expansion in the HD gene (>39 CAG repeats);

  • Brain imaging may provide supporting evidence;

  • Psychological or psychiatric reports including neurocognitive testing; and

  • School records may provide supporting evidence.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

12.02

111.17

112.02

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.790 Kufs Disease -- Type A and B

COMPASSIONATE ALLOWANCE INFORMATION

KUFS DISEASE -- TYPE A and B
ALTERNATE NAMES

Adult Neuronal Ceroid Lipofuscinosis; Adult Onset Neural Ceroid Lipofuscinosis; Adult NCL; NCL Type 4; NCL4; CLN4A Disease; CLN4B Disease; Kufs Disease; Kufs Type Neuronal Ceroid Lipofuscinosis

DESCRIPTION

Kufs disease is an adult type of inherited neurodegenerative lysosomal storage disease (neuronal ceroid lipofuscinosis, or NCL) where abnormal fats and proteins (lipopigments) accumulate in the nervous tissue, causing progressive motor and cognitive deficits. There are two forms of Kufs disease with different but overlapping clinical manifestations:

  • Kufs type A, and

  • Kufs type B.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : The diagnosis of Kufs disease is based on:

  • Clinical history documenting changes in motor, behavioral, and cognitive function;

  • Biopsy of the skin or other tissues showing accumulation of lipopigments in cells with characteristics fingerpring-type pattern;

  • Enzyme essays;

  • and

  • Electroencephalogram (EEG) documenting seizures; and

  • Genetic testing showing mutations. (This testing may be helpful but is not required for diagnosis.)

 

Physical findings: There are two forms of Kufs disease with different but overlapping clinical manifestations.

  • Myoclonus (abrupt spasms);

  • Seizures;

  • Ataxia (loss of coordination of the muscles);

  • Parkinsonism;

  • Chorea;

  • Spasticity;

  • Dysarthria (difficulties with articulation);

  • Facial dyskinesia.

  • Dementia, and

  • Extrapyramidal signs.

ICD-9: 330.1

ICD-10: E75

PROGRESSION

The clinical manifestations of Kufs disease usually appear approximately at age 30 years, but the range of onset age spans from adolescence to late adulthood. The disease is progressive and most affected individuals survive approximately ten years after onset of the symptoms.

TREATMENT

There is no treatment to cure or slow down the progression of Kufs disease.

Anticonvulsive drugs are helpful to control seizures and myoclonic jerking.

Physical, speech, and occupational therapies, can help individuals function for as long as possible. Experimental therapies, including gene therapy, are used for NCL disorders.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that documents the diagnostic features, progressive neurological decline, and family history obtained from the claimant’s medical source(s);

  • EEG reports (Kufs type A);

  • Tissue biopsy pathology reports; and

  • Activities of daily living reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.02

11.17

12.02

Equals

11.04

11.06

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.795 Lissencephaly

COMPASSIONATE ALLOWANCE INFORMATION

LISSENCEPHALY

ALTERNATE NAMES

Lissencephaly Type I; LIS1; Classical Lissencephaly; X-Linked Lissencephaly; XLIS; Lissencephaly with Agenesis of the Corpus Callosum; Lissencephaly with Cerebellar Hypoplasia; Microlissencephaly; Miller-Dieker Syndrome

DESCRIPTION

Lissencephaly is a brain malformation in which the physical structure of the brain did not develop correctly during fetal development. Lissencephaly is characterized by the absence of normal folds and ridges (convolutions) in the cerebral cortex, resulting in a nearly smooth brain and an abnormally small head (microcephaly).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of lissencephaly is usually made by:

  • Computed tomography (CT), or

  • Magnetic resonance imaging (MRI).

Physical findings: Physical findings for lissencephaly may include:

  • Hypo- (loss of muscle tone) or hypertonia (increased muscle tone);

  • Trouble with feeding;

  • Poor head growth;

  • Intellectual disability;

  • Seizures;

  • Difficulty controlling muscles (ataxia);

  • Stiffness or spasticity of arms and legs;

  • Slowed growth; and

  • Developmental delays.

ICD-9: 742.2

ICD-10: Q04.3

PROGRESSION

The prognosis for children with lissencephaly is poor with many dying in infancy, and the remainder showing no significant development beyond a 3 -5 month level.

TREATMENT

There is no way to reverse the effects of lissencephaly. Supportive management of lissencephaly includes treatment of seizures, and physical and occupational therapies to lessen spasticity. Feeding difficulties are treated with a gastrostomy tube. Respiratory problems are the most common causes of death.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Cranial MRI or CT scans; and

  • Developmental assessment or psychological testing to address allegations of mental impairment may be warranted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

111.02

112.02

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.830 Myoclonic Epilepsy with Ragged Red Fibers Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MYOCLONIC EPILEPSY WITH RAGGED RED FIBERS SYNDROME

ALTERNATE NAMES

MERRF; Myoclonus with Epilepsy with Ragged Red Fibers; MERRF Syndrome; Myoencephalopathy Ragged Red Fiber Disease; Fukuhara syndrome; Myoclonic epilepsy associated with ragged red fibers; Myoencephalopathy ragged-red fiber disease

DESCRIPTION

Myoclonic Epilepsy with Ragged Red Fibers (MERRF) is a rare inherited neurometabolic disorder that affects the central nervous system, skeletal muscles, and other body systems. Characteristic abnormal muscle cells appear as ragged red fibers when stained and viewed under a microscope.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing :

  • Muscle biopsy with pathology report documenting structurally abnormal mitochondria;

  • CT/MRI for cerebral atrophy;

  • EEG for seizure activity;

  • Blood serum testing for elevated lactate levels; and

  • Hearing and vision testing.

Physical findings:

  • Neurological dysfunction including cerebellar ataxia;

  • Myoclonic seizures (brief, sudden twitching muscle spasms);

  • Progressive spasticity;

  • Dementia;

  • Muscle atrophy with muscle weakness;

  • Neuropathy;

  • Optic atrophy; and

  • Short stature.

ICD-9: 277.87

ICD-10: E88.40

PROGRESSION

Signs and symptoms of this disorder mostly appear during childhood or adolescence, although sometimes after age 20. Clinical course is variable, from slowly progressive to rapidly downhill.

TREATMENT

There is no current cure for MERRF and treatment is supportive. Medications may be prescribed for seizures and to control muscle movement. Physical therapy and occupational therapy can be used to extend the range of muscle movement and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine may provide subjective improvement in fatigue and energy levels in some individuals.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment, and physical and cognitive findings;

  • Muscle biopsy showing the presence of ragged red fibers;

  • Imaging studies such as CT or MRI; and

  • EEG results, vision or hearing testing may be helpful.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.02

11.17

111.02

111.17

Equals

11.17

12.02

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.836 Neurodegeneration with Brain Iron Accumulation - Type 1 and 2

COMPASSIONATE ALLOWANCE INFORMATION
NEURODEGENERATION with BRAIN IRON ACCUMULATION - TYPE 1 and 2

ALTERNATE NAMES

NBIA-1; NBIA-2; Hallervorden-Spatz Syndrome; (HSS); Pantothenate Kinase Associated Neurodegeneration; PKAN; Pigmentary Degeneration of Globus Pallidus and Substantia Nigra Red Nucleus, Neuroferritinopathy, Infantile; Neuroaxonal Dystrophy; INAD

DESCRIPTION

Neurodegeneration with Brain Iron Accumulation (NBIA) is a rare inherited neurological movement disorder that is characterized by progressive degeneration of the nervous system. NBIA Type 1 (NBIA-1) and Type 2 (NBIA-2) are caused by one or more genetic mutations that result in iron being deposited in regions of the brain that control movement and balance; the most common mutation involves the PANK2 gene.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : The diagnosis of NBIA is based on:

  • Medical and family history;

  • Neurologic exam; and

  • MRI of the brain can be helpful to demonstrate the accumulation of iron in the basal ganglia.

Although there are laboratory tests for the genetic mutations of NBIA-1 and NBIA-2, they are expensive and not widely available.

Physical findings: Symptoms of this disease usually develop during childhood, and may include:

  • Distorting muscle contractions of the limbs, face or trunk;

  • Involuntary writhing muscle movements;

  • Coordination difficulties;

  • Difficulty swallowing or speaking;

  • Confusion;

  • Disorientation;

  • Seizures;

  • Visual impairment; and

  • Dementia.

ICD-9: 333.0

ICD-10: E75.25

PROGRESSION

NBIA usually begins between 7 and 15 years of age, although it may also present earlier (infantile onset) or later (adult onset). The severity and rate of progression correlates with the age at onset, especially in infants and young children. Symptoms and signs such as dystonia and spasticity eventually limit the ability to walk, and usually progress to the use of a wheel chair by mid-teens. Life expectancy is variable, but the average survival after diagnosis is 10-12 years. Death can occur secondary to dystonia, impaired swallowing, and aspiration pneumonia.

TREATMENT

There is currently no cure for NBIA. Treatment is symptomatic and supportive. Iron chelating medications have been attempted without significant effect. Individuals may benefit somewhat from pharmacological therapy for specific symptoms, such as rigidity. Physical, speech, and occupational therapies can also help with activities of daily living.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Longitudinal clinical history and examination that describe diagnostic features and family history;

  • Neurologic exam; and

  • Imaging studies, such as an MRI.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

12.02

111.17

112.02

Equals

11.06

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.845 Ohtahara Syndrome

COMPASSIONATE ALLOWANCE INFORMATION
OHTAHARA SYNDROME

ALTERNATE NAMES

Early Infantile Epileptic Encephalopathy with Burst Suppression; EIEE

DESCRIPTION

Ohtahara Syndrome (OS) is a rare neurological disorder characterized by onset of seizures within the first three months of life. Infants primarily have tonic seizures, but may also experience partial seizures (also called focal seizures), or myoclonic seizures. OS is most commonly caused by metabolic disorders or structural abnormalities in the brain; although for many cases, the cause cannot be determined.  Most infants with the disorder show significant abnormalities of the cerebral hemispheres. Males are more often affected than females.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • EEG shows the characteristic “burst suppression” pattern;

  • Head CT or MRI scan; and

  • Metabolic screening.

Physical findings: Infants with OS often appear excessively sleepy with limited muscle control. As seizures become more frequent, they develop stiffness (spasticity) in the limbs.

ICD-9: 345.11

ICD-10: G40.319

PROGRESS I ON

OS is a very progressive seizure disorder that is associated with high mortality and morbidity. As the disease progresses, seizures become more frequent, accompanied by physical impairments and developmental delay. Some children will die in infancy within weeks or months from onset due to chest infections or pneumonia; others will have severe permanent mental and neurological deficits.

TREATMENT

There is no cure for this disorder. Treatment is symptomatic and supportive. Anti-seizure medications are prescribed to control seizures with limited effectiveness. Corticosteroids are occasionally helpful. In cases where there is a focal abnormal area of the brain, surgery may be beneficial.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • EEG with evidence of burst suppression pattern;

  • Imaging studies such as CT or MRI; and

  • Metabolic laboratory studies.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.02

111.02

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.850 Orthochromatic Leukodystrophy with Pigmented Glia

COMPASSIONATE ALLOWANCE INFORMATION

ORTHOCHROMATIC LEUKODYSTROPHY WITH PIGMENTED GLIA

ALTERNATE NAMES

Pigmented Type of Orthochromatic Leukodystrophy; Pigmentary Orthochromatic Leukodystrophy; POLD; Orthochromatic Leukodystrophy with Pigmented Glia Cells; Adult Onset Leukodystrophy; Adult Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia; ALSP

DESCRIPTION

Orthochromatic Leukodystrophy with Pigmented Glia is a rare inherited type of adult leukodystrophy that affect the white matter of the brain.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of this disorder is based:

  • Clinical and family history;

  • Neurological exam;

  • Neuropsychological testing; and

  • Neuroimaging, such as computerized tomography (CT) or magnetic resonance imaging (MRI).

Neurological physical findings: The neurological physical findings include:

  • Abnormal gait;

  • Spasticity;

  • Dysarthria (weakness in the muscles used for speech);

  • Ocular apraxia (absence or defect of controlled, voluntary, and purposeful eye movement);

  • Seizures;

  • Rapidly progressive dementia; and

  • Facial and bulbar weakness.

ICD-9: 330.0

ICD-10: E75

PROGRESSION

Orthochromatic leukodystropy with pigmented glia is progressive and usually fatal. This disorder typically affects adults between the ages of 40-50 years of age. As the disorder progresses some individuals become wheel chair dependent and require feeding via gastrostomy to maintain nutrition and hydration. Death usually occurs within ten years of diagnosis secondary to sepsis infection.

TREATMENT

There is no cure for this disorder. Treatment is symptom specific and supportive. Antidepressants and tranquilizers are used to treat psychiatric symptoms.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical information documenting a progressive dementia is critical and required for disability evaluation of orthochromatic leukodystrophy with pigmented glia. The preferable source of this information is the clinical records from the claimant’s medical source(s); and

  • CT/MRI scans of the brain showing abnormal changes in the white matter.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

12.02

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.860 Pelizaeus-Merzbacher Disease--Classic Form

COMPASSIONATE ALLOWANCE INFORMATION

PELIZAEUS-MERZBACHER DISEASE--CLASSIC FORM

ALTERNATE NAMES

Classic PMD; Pelizaeus-Merzbacher Brain Sclerosis; Adult Pelizaeus-Merzbacher Disease; Classic Pelizaeus-Merzbacher Disease

DESCRIPTION

Pelizaeus-Merzbacher Disease (PMD) is a rare, neurodegenerative disorder, and is one of a group of genetic disorders called leukodystrophies affecting the white matter of the brain and spinal cord. There are two main types of PMD: Classic PMD and Connatal PMD. Pelizaeus-Merzbacher Disease-Classic Form (Classic PMD) is the most common type.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: MRI demonstrates symmetric and widespread abnormality of the white matter of the cerebrum, brain stem, and cerebellum.

Physical findings: Individuals with Classic PMD may have:

  • Infantile nystagmus (repetitive, uncontrolled eye movements);

  • Abnormal muscle tone and spasticity;

  • Stridor (high-pitched, whistling sound heard while taking in a breath);

  • Poor coordination;

  • Delayed motor development;

  • Epileptic seizures;

  • Ataxia (loss of full control of bodily movements);

  • Intellectual disability; and

  • Choreoathetosis (involuntary movements in a combination of chorea (irregular migrating contractions) and athetosis (twisting and writhing).

ICD-9: 330.0

ICD-10: E75.25

PROGRESSSION

Classic PMD progresses slowly and children generally survive to adulthood. Some children die before the age of 20, while others live much longer.

TREATMENT

There is no cure for PMD, and treatment is supportive. Tracheostomy and/or feeding tubes may be necessary to avoid aspiration. Physical therapy, orthotics, and antispasticity medications may aid in motor development, and minimize joint contractures and kyphoscoliosis; orthopedic surgery is sometimes indicated. Developmental therapy and special education help to maximize cognitive achievement, and speech/language therapy aids in language development.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • MRI of the brain showing abnormal white matter (demyelination);

  • Progress reports of physical therapy, speech/language therapy; and

  • Reports of educational evaluations/academic progress.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

12.02

111.17

112.02

Equals

11.06

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.865 Pelizaeus-Merzbacher Disease--Connatal Form

COMPASSIONATE ALLOWANCE INFORMATION

PELIZAEUS-MERZBACHER DISEASE--CONNATAL FORM

ALTERNATE NAMES

Connatal Pelizaeus-Merzbacher Disease; Connatal PMD; Cockayane-Pelizaeus-Merzbacher Disease; Type II Connatal Pelizaeus-Merzbacher Disease; Severe PMD

DESCRIPTION

Pelizaeus-Merzbacher Disease (PMD) is a rare, neurodegenerative disorder and is one of a group of genetic disorders called leukodystrophies affecting the white matter of the brain and spinal cord.

There are two main types of PMD: Classic PMD and Connatal PMD. Pelizaeus-Merzbacher Disease - Connatal Form (Connatal PMD) is the most severe, with profound motor and cognitive developmental delays.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: MRI demonstrates symmetric and widespread abnormality of the white matter of the cerebrum, brain stem, and cerebellum.

Physical findings: Individuals with Connatal PMD have:

  • Poor growth;

  • Microcephaly;

  • Joint contractures;

  • Ataxia;

  • Generalized hypotonia (decreased muscle tone); and

  • Nystagmus (involuntary eye movement).

ICD-9: 330.0

ICD-10: E75

PROGRESSION

Connatal PMD presents in the first month of life and is often fatal during the first decade of life, typically due to respiratory complications.

TREATMENT

There is no cure for PMD, and treatment is supportive and symptom specific. Physical and occupational therapies are used to minimize joint contractures and dislocations. Tracheostomy may be necessary for pharyngeal weakness. Medications are prescribed for seizures and movement disorders.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • MRI of the brain showing abnormal white matter (demyelination).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

111.06

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.875 Perry Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

PERRY SYNDROME

ALTERNATE NAMES

Parkinsonism with alveolar hypoventilation and mental depression

DESCRIPTION

Perry Syndrome is a rare inherited brain disease with gradual loss of neurons that regulate movement, emotion, and breathing.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of Perry syndrome is made by molecular genetic testing for DCTN1,the only gene known to be associated with Perry syndrome; and sleep studies to document abnormally slow breathing (hypoventilation)/hypoxia.

Physical findings: Four major features characterize Perry syndrome movement abnormalities:

  1. 1. 

    Parkinsonism;

  2. 2. 

    Psychiatric changes;

  3. 3. 

    Weight loss; and

  4. 4. 

    Hypoventilation.

Signs of parkinsonism include:

  • Unusually slow movements (bradykinesia);

  • Stiffness; and

  • Tremors.

Psychiatric changes include:

  • Depression;

  • Suicidal thoughts;

  • Apathy; and

  • Social withdrawal.

Significant, unexplained weight loss affects many individuals early in the disease. Hypoventilation occurs in the later stages of the disease, and can result in a life-threatening lack of oxygen and respiratory failure.

ICD-9: 294.11

ICD-10: F03.91

PROGRESSION

Perry syndrome commonly presents around age 48, with the average survival of 5 years after symptoms first appear. Death is common from respiratory failure or pneumonia; suicide is another cause.

TREATMENT

There is no cure for Perry syndrome. Treatment involves the management of symptoms, including medications for movement disorders and psychiatric symptoms; ventilatory support; and nutritional supplements.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment from the claimant’s medical source(s) documenting progressive physical, neurological findings of Perry syndrome; and

  • Sleep study results.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS

Meets

11.06

11.17

12.02

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.905 Stiff Person Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

STIFF PERSON SYNDROME

ALTERNATE NAMES

Stiff Man Syndrome; Stiffperson’s Syndrome; Moersch-Woltmann Syndrome; Moersch-Woltman Condition; SPS; SMS; Stiff Baby Syndrome; Focal Stiff Person Syndrome; Stiff Limb Syndrome; Jerking Stiff Person Syndrome; Progressive Encephalomyelitis with Rigidity and Myoclonus; PERM

DESCRIPTION

Stiff Person Syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease.

SPS is frequently associated with other autoimmune diseases such as diabetes and thyroiditis. Other diseases associated with SPS include breast cancer, epilepsy, and paraneoplatic syndrome.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: SPS is diagnosed by:

  • Testing profiles including anti-GAD (glutamic acid decarboxylase), antipancreatic islet cell and anti-amphiphysin antibodies;

  • Electromyelography (EMG);

  • Electroencephalogram (EEG) and lumbar puncture; and

  • Imaging tests are indicated only in special cases.

Physical findings: SPS is characterized by:

  • Muscle rigidity that waxes and wanes with painful muscle spasms;

  • Progressive muscle stiffness in the trunk and extremities;

  • Abnormal posture; and

  • Sensitivity to stimuli such as noise, touch, and emotional distress.

ICD-9: 333.91

ICD-10: G25.82

PROGRESSION

SPS may begin at any age, most commonly between 30 – 50 years of age.

Individuals with SPS may experience frequent falls with severe injuries because they lack normal defensive reflexes. SPS can occur in children including infants, although presentation is different from adults. Infants with this disorder are markedly hypertonic at birth and are at high risk of sudden infant death. In some cases, muscle tone becomes almost normal by 3 years of age, but generally reappears by adolescence.

TREATMENT

There currently is no cure for SPS, and management focuses on relieving symptoms. Treatment may include benzodiazepine, anticonvulsant medications, intrathecal baclofen, plasmaphersis, intravenous immunoglobulin, and physical or occupational therapies. Psychiatric treatment may be considered when symptoms of depression or anxiety are prominent.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment, progression of neurological symptoms, response to medication, and evaluative tests that rule out other causes of stiffness;

  • EMG; and

  • Special antibody testing, particularly anti-GAD antibodies.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

111.17

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.910 Tabes Dorsalis

COMPASSIONATE ALLOWANCE INFORMATIONS

TABES DORSALIS

ALTERNATE NAMES

Progressive Locomotor Ataxia; Locomotor Ataxia; Syphilitic Spinal Sclerosis; Syphilitic Myelopathy

DESCRIPTION

Tabes Dorsalis is a complication of untreated syphilis that damages the spinal cord and peripheral nerves.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Cerebrospinal (CSF) examination;

  • CT/MRI of the head and spine; and

  • Serum tests for syphilis infection are required to confirm the diagnosis.

Physical findings :

  • Myelopathy with characteristic high stepping “tabetic gait;”

  • Loss of coordination and balance;

  • Pupils that react abnormally to light;

  • Diminished (hyporeflexia) or absent (areflexia) reflexes;

  • Episodes of intense pain and disturbed sensation (paresthesias);

  • Personality changes;

  • Dementia;

  • Deafness; and

  • Visual impairment.

ICD-9: 094.0

ICD-10: A52.11

PROGRESSION

If left untreated, tabes dorsalis can lead to paralysis, dementia, and blindness, as well as affecting other body systems (for example, cardiovascular and musculoskeletal). Treating syphilis with antibiotics cures the infection and prevents new damage, but does not reverse the already present nerve degeneration and other complications.

TREATMENT

Physical and occupational therapy may help people who have muscle weakness or muscle wasting. Medications may be needed to treat associated pain.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment and evidence of damage of the spinal cord and peripheral nervous tissue;

  • Laboratory reports of cerebrospinal fluid; and

  • Head CT, spine CT, or MRI scans of the brain and spinal cord to rule out other diseases.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

2.02

2.03

2.04

11.08

11.17

12.02

Equals

11.08

11.17

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.923 Adult Onset Huntington Disease

COMPASSIONATE ALLOWANCE INFORMATION

ADULT ONSET HUNTINGTON DISEASE

ALTERNATE NAMES

Huntington’s chorea; Huntington’s Disease; Huntington chorea; Huntington chronic progressive hereditary chorea

DESCRIPTION

Huntington disease (HD) is a hereditary neurodegenerative disorder that is characterized by progressively worsening motor, cognitive, behavioral, and psychiatric symptoms. HD is caused by a mutation of the Huntington gene called a “CAG repeat expansion.” The mutation results in gradual neuronal degeneration in the basal ganglia of the brain, and progresses to involve other regions of the brain responsible for coordination of movements, thoughts, and emotions. Neuronal degeneration causes diffuse and severe brain atrophy that is comparable to late stage Alzheimer disease.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of HD is made by:

  • Clinical history documenting changes in motor, behavioral and cognitive function;

  • Family history of HD;

  • Abnormal neurological exam findings;

  • Abnormal neuropsychological test results; and

  • HD gene test with abnormal results (40 or more CAG repeats).

Brain imaging is optional, but if performed may show atrophy of the caudate nucleus or diffuse brain atrophy.

Physical findings: Clinical presentation of HD may include:

  • Changes in personality, behavior, cognition, speech, and coordination;

  • Random uncoordinated extremity movements (chorea);

  • Rigidity;

  • Leg stiffness;

  • Clumsiness;

  • Slowness of movement;

  • Tremors; and

  • Muscle spasms.

As the disease progresses, concentration on cognitive tasks becomes increasingly difficult, and an individual may have difficulty swallowing and feeding himself. Family history of HD is usually but not always positive.

ICD-9: 333.4

ICD-10: G10

PROGRESSION

The average onset age is around 40, plus or minus 10 years; however, onset has been documented as young as age 5 (see Juvenile HD) and as old as age 90. Death usually occurs at about 15 to 20 years after onset of symptoms, and is due to complications of the disease.

TREATMENT

There is no cure or treatment to stop, slow or reverse the progression of HD. Claimant’s medical source(s) may prescribe medications to manage symptoms. A psychiatrist or behavior management specialist may address behavior disorders. A speech language pathologist may evaluate communication and swallowing problems. A nutritionist may be consulted to address nutritional needs as the disease progresses. Assistive devices such as wheelchairs, helmets, and communication boards may be used for safety, and to improve quality of life.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Claimant’s medical source(s) records documenting progression of motor, cognitive, and psychiatric symptoms and signs; family history of HD, and abnormal neurological exam findings consistent with HD;

  • Laboratory testing showing a CAG repeat expansion in the HD gene (40 or more CAG repeats);

  • Brain imaging may provide supporting evidence; and

  • Psychological or psychiatric reports including neurocognitive testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMAR KS

Meets

11.17

Equals

12.02

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.925 Allan-Herndon-Dudley Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

ALLAN-HERNDON-DUDLEY SYNDROME

ALTERNATE NAMES

Allan-Herndon Syndrome; X-linked Intellectual Deficit with Hypotonia; Monocarboxylate Transporter 8 Deficiency; MCT8 Deficiency; MCT8 Specific Thyroid Hormone Cell Transporter Deficiency; MCT8 SLC16A2AHDS; Triidothyronine Resistence; T3 Resistence; Intellectual Disability and Muscular Atrophy; X-linked Intellectual Disability with Hypotonia

DESCRIPTION

Allan-Herndon-Dudley Syndrome (AHDS) is a rare inherited disorder of brain development that causes moderate to severe intellectual disability and problems with movement. Some children with AHDS have difficulty with communication and speech. Mutations in the SLC16A2 gene (also known as MCT8) cause AHDS. The SLC16A2 gene provides instruction for making a protein that transports thyroid hormone triiodothyronine (T3) into nerve cells during development. Because of the mutation, normal brain development is disrupted and T3 accumulates in the blood, causing toxicity in some organs and exacerbations of the symptoms of AHDS. This condition occurs exclusively in males.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : The diagnosis is established by a combination of clinical examination and molecular genetic testing for mutations in the SLC16A2 gene, elevated T3, and decreased T4 in the blood.

Physical findings: The physical findings of AHDS may include:

  • Poor growth;

  • Elongation of the face;

  • Abnormal folding of the ears;

  • Developmental delay;

  • Intellectual disability;

  • Poor head control;

  • Abnormal muscle tone (initially hypotonia, later evolving into spasticity);

  • Underdevelopment of muscles (muscle hypoplasia);

  • Joint contractures; and

  • Unclear or no speech.

ICD-9: 359

ICD-10: G72.89

PROGRESSION

Children with AHDS usually appear normal at birth with signs of the disease occurring shortly after birth with poor muscle tone, inability to control head movements, and physical and developmental delays. Progressively worsening muscle weakness, stiffness, exaggerated reflexes, joint deformities, and involuntary movements of the limbs eventually leads to wheel chair dependency by early adulthood. Some children may have delays in language development.

TREATMENT

Presently, there is no standardized treatment for AHDS. Treatment is symptom specific and supportive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the progression of neurological and cognitive decline from the claimant’s medical source(s);

  • Genetic testing for mutations in the SLC16A2 (or MCT8) gene; and

  • Laboratory blood testing with elevations in free T3 and decreased free T4.

Suggested Listings for Evaluation:

DETERMINATION LISTING REMARKS

Meets

111.17

 

Equals

111.07 B

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.935 Caudal Regression Syndrome - Types III and IV

COMPASSIONATE ALLOWANCE INFORMATION

CAUDAL REGRESSION SYNDROME - TYPES III AND IV

ALTERNATE NAMES

Caudal Dysplasia Sequence; Caudal Regression Sequence; Caudal Dysgenesis Syndrome; Sacral Regression; Sacral Agenesis; Lumbo Sacral Agenesis; Sacral Defect with Anterior Meningocele; Sacral Regression Syndrome; Sacral Agenesis Syndrome

DESCRIPTION

Caudal Regression Syndrome (CRS) is a rare congenital disorder that occurs when the lowest half of the body (caudal) does not fully form in utero.

There are four main types of CRS. Types I and II are considered mild forms with coccyx (tailbone) absence without deficits in functionality. Types III and IV are the most severe with systemic and neurological complications.

The exact cause of this disorder is unknown. It occurs in people with no history of the condition in their family. Multiple genetic and environmental risk factors are thought to be contributory to this condition. Maternal diabetes, genetic predisposition, and vascular hypoperfusion have been linked to CRS.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: A preliminary diagnosis can be made in utero by ultrasound, during the first trimester of pregnancy, but must be confirmed after birth. The severity of the disease is determined by examination of the newborn by postnatal ultrasound and a MRI (magnetic resonance imaging).

Physical findings : Individuals with CRS may have:

  • Partial agenesis (absence) of the thoracolumbosacral spine;

  • Imperforate (closed) anus;

  • Malformed genitalia;

  • Bilateral renal dysplasia or aplasia;

  • Pulmonary hypoplasia;

  • In severe cases, rotation and fusion of the lower extremities;

  • Spinal cord defects, and related motor and sensory deficits;

  • Genitourinary defects (i.e. unilateral or bilateral renal absence, renal displacement, and fused urinary tubes);

  • Gastrointestinal defects (inability to control bowel movements and closed anus); and

  • Cardiac disease.

ICD-9: 742.9

ICD-10: Q07.8

PROGRESSION

The prognosis depends on the severity of spinal involvement and associated malformations. Early neonatal (the first 28 days of life) death in the severe forms occurs from cardiac, renal, and respiratory complications.

TREATMENT

There is no cure for this disorder because the primary pathology is irreversible. Treatment is supportive and symptomatic. Individuals with severe forms of CRS require ongoing neurological, orthopedic and renal interventions. Surgical intervention, such as a colostomy is performed to treat an imperforate (closed) anus. Physical and occupational therapies are used to improve quality of life.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment, as well as the related functional limitations.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.08

111.08

Equals

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.941 De Sanctis Cacchione Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

DE SANCTIS CACCHIONE SYNDROME

ALTERNATE NAMES

De Sanctis-Cacchione Syndrome; Xerodermic Idiocy; Xeroderma Pigmentosum with Neurological Manifestation

DESCRIPTION

De Sanctis Cacchione Syndrome is a rare inherited disorder characterized by extreme sunlight sensitivity, skin atrophy and pigmentation, skin tumors, and neurological and intellectual deficits. Mutations in the ERCC6 gene cause this Syndrome. De Sanctis Cacchione Syndrome is not to be confused with Xeroderma Pigmentosum.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnosis is usually made on clinical basis; in some cases, molecular testing documenting mutations in ERCC6 gene.

Physical findings: Physical findings include:

  • Photosensitivity (sun allergy);

  • Abnormal skin pigmentation;

  • Photophobia (intolerance of light);

  • Recurrent conjunctivitis (inflammation or swelling of the conjunctiva);

  • Eyelid solar lentigines (small brown pigmented spots that appear on the upper eyelids);

  • Skin ulceration and scarring;

  • Cerebellar ataxia (inability to control movements);

  • Progressive sensorineural deafness;

  • Progressive intellectual decline;

  • Short stature;

  • Microcephaly (abnormally small head); and

  • Gonadal hypoplasia.

Shortening of the Achilles tendons with eventual weakness in all four limbs (quadriparesis) may be reported.

ICD-9: 757.33

ICD-10: Q82.8

PROGRESSION

De Sanctis Cacchione Syndrome is usually diagnosed in infancy. Prognosis is generally poor.

TREATMENT

Treatment for this disorder is symptom specific. Individuals with this condition require total protection from all forms of ultraviolet light. Examination by a dermatologist is recommended for evaluation of suspicious growths on the skin. Ophthalmological and neurological consultations are needed to address eye and neurological findings.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Laboratory findings; and

  • Mental testing for developmental delay or intellectual disability may be indicated.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

8.07 B

12.05

108.07

112.05

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.949 Fatal Familial Insomnia

COMPASSIONATE ALLOWANCE INFORMATION

FATAL FAMILIAL INSOMNIA

ALTERNATE NAMES

Insomnia Fatal Familial; FFI

DESCRIPTION

Fatal Familial Insomnia (FFI) is a rare, genetic sleep disorder caused by prion mutation of the PRNP gene. These mutations lead to degeneration in the thalamus, the part of the brain responsible for sensory perception and regulation of motor function. FFI is characterized by by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Electroencephalography (EEG);

  • Magnetic resonance imaging (MRI) of the brain;

  • Sleep apnea testing; and

  • Evidence of mutations in the PRNP gene.

Physical findings:

  • Difficulty sleeping;

  • High pulse and blood pressure;

  • Excessive sweating; and

  • Decline in coordination and motor ability.

ICD-9: 046.72

ICD-10: A81.83

PROGRESSION

FFI is a progressive sleep disorder that usually begins in adulthood and leads to death within 6 to 32 months.

TREATMENT

There is no cure for FFI. Treatment is symptomatic and palliative.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of this impairment; and

  • Appropriate laboratory testing, including genetic testing showing mutations in the PRNP gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.967 MECP2 Duplication Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MECP2 DUPLICATION SYNDROME
ALTERNATE NAMES

Trisomy Xq28; Distal Duplication Xq; Telomeric Duplication Xq; Lubs-Arena Syndrome; Lubs X-linked Intellectual Deficit Syndrome; Intellectual Deficit X-linked Lubs Type

DESCRIPTION

MECP2 Duplication Syndrome is a genetic disorder in which there is an extra copy of the MECP2 gene on the X chromosome in each cell, meaning only males are affected. This condition causes severe neurodevelopmental disorders.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : The laboratory diagnosis of MECP 2 duplication syndrome is established by molecular genetic testing documenting duplications of Xq28, the chromosomal location of MECP 2.

Physical findings:

  • Failure to thrive;

  • Difficulties with swallowing and feeding;

  • Gastroesophageal reflux;

  • Abnormal muscle tone (ranging from hypotonia to spasticity);

  • Developmental delay;

  • Intellectual disability;

  • Poor speech development;

  • Progressive spasticity;

  • Recurrent respiratory infections; and

  • Seizures.

ICD-9: 758.81

ICD-10: Q98.9

PROGRESSION

Children with this disorder appear normal at birth. Shortly after birth, infants show signs of difficulties with feeding and swallowing resulting from hypotonia, gastro-esophageal reflux, failure to thrive, developmental delay, seizures, and recurrent respiratory infections. Respiratory infections and neurological deterioration are a major cause of death, with mortality occurring in half of affected individuals by age 25.

TREATMENT

Medical management of children with MECP 2 duplication syndrome is supportive and planned on a case-by-case basis, depending on the individual circumstances. For example, physical and occupational therapies may be used to help relieve spasticity, maintain or increase muscle tone. A speech language pathologist may evaluate communication and swallowing problems. Assistive devices such as wheelchairs, helmet, and communication boards may be used for safety, and to improve quality of life. Anticonvulsive medications may be used to treat seizures. School age children may benefit from individualized educational planning.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes diagnostic features of the impairment and laboratory findings are needed to confirm the diagnosis; and

  • Developmental assessment or psychological testing to address allegations of mental impairments may be warranted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.07

11.17

12.05

111.07

111.17

112.05

Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.973 Nonketotic Hyperglycinemia

COMPASSIONATE ALLOWANCE INFORMATION

NONKETOTIC HYPERGLYCINEMIA

ALTERNATE NAMES

Glycine Encephalopathy; Hyperglycinemia Nonketotic; Isolated Nonketotic Hyperglycinemia; NKH; Non-ketotic Hyperglycinemia

DESCRIPTION

Nonketotic Hyperglycinemia (NKH) is a genetic disorder characterized by abnormally high levels of glycine, an amino acid that is one of the “building blocks” of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain. NKH is caused by mutations in the AMT and GLDC genes, resulting in shortages of an enzyme that normally breaks down glycine in the body. This enzyme deficiency allows excess glycine to build up in tissues and organs, particularly the brain. There are several forms of NKH, which are distinguished by age of onset and severity of symptoms.

DIAGNOSTIC TESTING, PHYSCIAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: A diagnosis of NKH is confirmed by:

  • Enzyme or DNA analysis;

  • Laboratory findings of elevated plasma; and

  • Urine and CSF (cerebral spinal fluid) glycine concentrations.

Physical findings: Individuals with NKH have:

  • Seizures;

  • Brain malformations;

  • Movement disorders (ataxia);

  • Hypotonia (weak muscle tone);

  • Spastic diplegia (spasticity in the muscles of the legs, hips, and pelvis);

  • Optic atrophy (damage to the optic nerves causing progressive vision loss and problems with color vision);

  • Developmental delays; and

  • Intellectual disability.

ICD-9: 270.7

ICD-10: E72.51

PROGRESSION

Symptoms of NKH are present at birth with infants showing progressive lack of energy; feeding difficulties; weak muscle tone; abnormal jerking movements; and life threatening problems with breathing. Most children who survive these early signs and symptoms develop profound intellectual disabilities and hard to treat seizures. Mortality is associated with intractable seizures.

TREATMENT

Treatment of NKH is symptom specific. During the first two years of life, treatment sodium benzoate to reduce plasma concentration of glycine. Other treatment consisting of antiepileptic drugs for seizures; gastrostomy tube for feeding problems and gastroesophageal reflux; and physical and occupational therapies to improve activities of daily living.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features and physical findings; and

  • Abnormally elevated levels of glycine in the blood and CSF; and

  • Molecular genetic testing for mutations in the AMT and GLDC genes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.02

11.17

12.02

111.02

111.17

112.02

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.977 Phelan-Mcdermid Syndrome

COMPASSIONATE ALLOWANCE INFORMATION
PHELAN-MCDERMID SYNDROME

ALTERNATE NAMES

Phelan-McDermid Disease; Deletion 22q13 Syndrome; 22q13 Deletion Syndrome; Chromosome 22q13.3 Syndrome; Monosomy 22q13; Deletion 22q13.3 Syndrome

DESCRIPTION

Phelan-McDermid Syndrome is a rare genetic disorder that involves a deletion of 22q13 or a mutation of the SHANK3 gene.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Molecular genetic testing (usually chromosome microarray analysis, or CMA); or

  • Fluorescent in situ hybridization (FISH) test analysis.

Physical findings: The syndrome is generally characterized by:

  • Neonatal hypotonia (reduced muscle tone);

  • Global developmental delay;

  • Absent to severely delayed speech;

  • Disproportionately large hands/feet;

  • Dysplastic toenails;

  • Abnormal growth; and

  • Decreased perspiration.

The signs and symptoms vary widely from person to person. Some children have specific behavior characteristics including:

  • Mouthing or chewing non-food items;

  • Decreased pain perception; and

  • An autistic-like affect.

ICD-9: 758.39

ICD-10: Q93.5

PROGRESSION

Individuals with Phelan-McDermid syndrome generally have life-long complications associated with this disorder with no apparent life-threatening organic malformations. Individuals surviving to adulthood may not be able to function independently and may require supportive services.

TREATMENT

There is no cure for this disorder. Treatment is supportive and symptom specific. Physical and occupational therapies are utilized to improve adaptive functioning and strengthen muscles; and speech/language therapy is used to address delayed speech and language development. School age children require individualized and flexible instructional criteria.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Laboratory findings documenting the chromosome 22q13.3 deletion or sequencing documenting a mutation of SHANK3 (CMA or FISH testing); and

  • Developmental assessment or psychological testing..

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

12.05

12.10

112.05

112.10

112.14

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.981 Roberts Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

ROBERTS SYNDROME

ALTERNATE NAMES

Roberts Disease; Appelt-Gerken-Lenz Syndrome; Appelt-Gerken-Lenz Disease; Hypomelia Hypotrichosis Facial Hemangioma Syndrome; Hypomelia Hypotrichosis Facial Hemangioma Disease; Pseudothaliodomide Syndrome; Roberts SC Phocomelia Disease; Tetraphocomelia-Cleft-Palate Syndrome; SC Syndrome

DESCRIPTION

Roberts Syndrome (RS) is a genetic disorder caused by mutations in the ESCO2 gene, resulting in abnormal chromosome separation during cell division. RS is characterized by low birth weight and subsequent growth failure, and developmental abnormalities.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Molecular genetic testing for ESCO2 gene mutations, resulting in absence of functional ESCO2 protein.

Physical findings:

  • Symmetric, shortened arm and leg bones (hypomelia), or sometimes hands and feet located very close to the body (phocomelia);

  • Missing toes or fingers;

  • Joint contractures;

  • Microcephaly (abnormally small head);

  • Cleft palate;

  • Micrognathia (undersized lower jaw);

  • Encephalocele (protrusion of the brain from the skull); and

  • Heart, kidney, or genital abnormalities.

ICD-9: 755

ICD-10: Q74

PROGRESSION

There is variation in the severity of clinical manifestations, and the most severe forms of RS are often stillborn or die shortly after birth. The less severely affected may live to adulthood. Individuals with the milder form of RS may have normal intellectual and social functioning abilities. Mortality in the newborn period or early childhood is due to cardiac or renal malformations.

TREATMENT

The treatment and management of RS is symptomatic, such as corrective surgery for cleft palate and limb deformities; prostheses, and developmental services including speech and language if cleft deformities are present. School age children require individualized and flexible instructional curricula. Standard treatment is needed for individuals with cardiac defects and renal abnormalities.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Molecular genetic testing for ESCO2 gene mutations; and

  • Developmental assessment or psychological testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

1.02

100.05

101.02

112.02

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.


DI 23022 TN 30 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 8/20/2020