Identification Number:
DI 23022 TN 40
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:Disability
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. 40, 10/05/2020

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 Quick Action Transmittal. These revisions do not change or introduce new policy or procedure.

Summary of Changes

DI 23022.111 Atypical Teratoid/Rhabdoid Tumor

  • Updated section titles to increase font size

  • Updated punctuation of bulleted list in "Suggested MER for Evaluation"

  • Updated spacing of listing in "Suggested Listings for Evaluation"

  • Capitalized "evaluation" in "Suggested MER for Evaluation"

DI 23022.298 Secondary Adenocarcinoma of the Brain

  • Added cells to "Remarks" section for each proposed listing in "Suggested Listings for Evaluation"

  • Revised note provided in "Remarks" section to reflect single listing instead of one note for all listings

DI 23022.325 Small Intestine Cancer

  • Updated spacing of bulleted lists in "Diagnostic testing" and "Physical findings sections

  • Added "ICD-10-CM" to section heading

  • Added ICD-10 code information to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM Coding" section

DI 23022.330 Spinal Muscular Atrophy (SMA) - Types 0 and 1

  • Updated table formatting so that all information is on one table instead of 3

  • Switched location of "Progression" and "Treatment" sections

  • Updated section headings under "Suggested Listings for Evaluation"

  • Revised "Listings" to "the listings" in note to adjudicators

DI 23022.365 Batten Disease

  • Updated table formatting so that all information is on one table instead of 3

  • Bulleted list of information provided in "Suggested MER for Evaluation"

DI 23022.375 Cri du Chat Syndrome

  • Updated section titles to increase font size

DI 23022.400 Fukuyama Congenital Muscular Dystrophy

  • Updated table formatting to be consistent with all other CAL impairment summaries

  • Changed name of condition in "Progression" section to acronym for the condition

  • Created bulleted list for information provided in "Suggested MER for Evaluation"

  • Added "Remarks" column to "Suggested Listings for Evaluation" section

  • Revised "Meets listing" to "Meets" in "Suggested Listings for Evaluation" section

  • Revised "Medical equals" to "Equals" in "Suggested Listings for Evaluation" section

  • Revised "Listings" to "the listings" in note to adjudicators

DI 23022.435 Late Infantile Neuronal Ceroid-Lipofuscinoses

  • Updated table formatting to be consistent with all other CAL impairment summaries

  • Revised "Onset & Progression" to "Progression

  • Created bulleted list for information provided in "Suggested MER for Evaluation"

  • Added "Remarks" column to "Suggested Listings for Evaluation"

  • Revised "Meets listing" to "Meets" in "Suggested Listings for Evaluation"

  • Revised "Medical equals" to "Equals" in "Suggested Listings for Evaluation"

DI 23022.450 Merosin Deficient Congenital Muscular Dystrophy

  • Added "ICD-10-CM" to section heading

DI 23022.490 Progressive Multifocal Leukoencephalopathy

  • Added "ICD-10-CM" to section heading

DI 23022.505 Subacute Sclerosing Panencephalitis

  • Updated table formatting to be consistent with all other CAL impairment summaries

  • Added "Remarks" column to "Suggested Listings for Evaluation" section

  • Revised "Meets listing" to "Meets in "Suggested Listings for Evaluation"

  • Revised "Medical equals" to "Equals" in "Suggested Listings for Evaluation

  • Revised "Listings" to "the listings" in note to adjudicators

DI 23022.111 Atypical Teratoid/Rhabdoid Tumor

COMPASSIONATE ALLOWANCE INFORMATION

ATYPICAL TERATOID/RHABDOID TUMOR

ALTERNATE NAMES

AT/RT; Central Nervous System AT/RT; CNS AT/RT; Malignant AT/RT; Childhood Atypical Teratoid / Rhabdoid Tumor; Childhood AT/RT

DESCRIPTION

Atypical Teratoid/ Rhabdoid Tumor (AT/RT) is a rare central nervous system tumor of the brain and spinal cord, which may also originate in other organs and tissues. It usually occurs in children younger than three years of age, although it can occur in older children and adults. About half of these tumors form in the cerebellum or brain stem.

Approximately 90% of AT/RTs are caused by genetic mutations in the INI1 gene.

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

Diagnostic testing: AT/RT is diagnosed using a combination of:

  • Clinical history;

  • Physical examination;

  • Imaging (CT or MRI scans, ultrasound, bone scan);

  • Biopsy results;

  • Laboratory tests including lumbar puncture, bone marrow biopsy and aspiration; and

  • INI1 gene testing for mutations.

Physical findings and Symptoms: Children with AT/RT may present with:

  • Complaints of morning headache or headache that goes away after vomiting;

  • Unusual sleepiness or change in activity level;

  • Loss of balance, lack of coordination, or trouble walking; and

  • Increased head size in infants.

ICD-9: 191.00

ICD-10: C72.9

PROGRESSION

AT/RTs usually occur in children younger than three years of age, although it can occur in older children and adults. Symptoms of AT/RTs may develop quickly and progress over a period of days or weeks with symptoms varying depending on the age of the child and the location of the tumor. Children presenting with AT/RT before the age of 3 years have a poor prognosis. The prognosis is also based on residual tumor remaining after surgery, and whether the cancer has spread (metastasized) to other parts of the central nervous system or rest of the body such as kidney.

TREATMENT

There is no standard staging system for central nervous system atypical teratoid/ rhabdoid tumor. This tumor is classified as newly diagnosed or recurrent. Treatment depends on the age of the child and extent of the cancer, and may include chemotherapy, radiation therapy, or high-dose chemotherapy with stem cell transplant. Long-term survival is possible in adults receiving multimodal therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Pathology report;

  • Operative reports;

  • MRI/ CT scans, bone scans, ultrasound; and

  • Results of bone marrow biopsy or lumbar puncture (spinal tap).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A

Listing level severity must be documented. Evaluate under 13.13 in adults if the tumor originates in the central nervous system. Evaluate under the appropriate adult listing when AT/RT originates in locations besides the central nervous system, such as in the neck (13.02 D), mediastinum (13.15 B 1), liver (13.19), and kidney (13.21 B).

113.13

Listing level severity must be documented.Evaluate under 113.03 when the tumor originates in locations besides the central nervous system.

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 23022.298 Secondary Adenocarcinoma of the Brain

COMPASSIONATE ALLOWANCE INFORMATION

SECONDARY ADENOCARCINOMA OF THE BRAIN

ALTERNATE NAMES

Adenocarcinoma Brain Metastasis; Brain Adenocarcinoma; Metastatic Adenocarcinoma of the Brain

DESCRIPTION

Secondary Adenocarcinoma of the Brain is a brain lesion caused by the spread of cancerous cells from a malignant tumor in another organ. Adenocarcinomas usually metastasize to the brain from primary tumors in the lung, though metastases originating in the breast or gastrointestinal organs have been observed.

Adenocarcinoma is a type of cancer that begins in glandular (secretory) cells. Glandular cells are found in tissue that lines certain internal organs that make and release substances in the body.

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

Diagnostic testing: The diagnosis is established by:

  • History and physical examination;

  • Brain imaging (CT or MRI scans);

  • Lumbar puncture;

  • Neurological testing; or

  • Blood tests

Physical findings: Common symptoms include:

  • Headaches;

  • Nausea and vomiting;

  • Seizures;

  • Cognitive decline;

  • Slurred or confused speech;

  • Impaired vision;

  • Numbness or weakness on one side of the body; and

  • Muscle weakness.

ICD-9: 198.3

ICD-10: C79.31

PROGRESSION

The prognosis for individuals with secondary adenocarcinoma of the brain is generally poor. Long-term survival is very rare but has been known to occur with aggressive treatment and therapy.

TREATMENT

Approach to treatment varies based on the site and aggressiveness of the primary tumor, but typically involves a combination of surgery, radiation, and chemotherapy.

Initial response to treatment tends to be favorable, but relapse within one year is common. Neurological impairment is a frequent side effect of treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Imaging reports such as CT scan or MRI scan;

  • Operative reports; and

  • Pathology/biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.08

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.09 B

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.09 C

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.10 C

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.
13.12 Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.14 A

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.15 B

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.16 A & B 2

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.17 B

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.18 C

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.21 B

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.22 D

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.23 A 2, B 3, C 2, & E 1 b

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

13.24 B

Adenocarcinoma in the brain may meet this listing as a distant metastasis of a primary cancer.

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 23022.325 Small Intestine Cancer

COMPASSIONATE ALLOWANCE INFORMATION

SMALL INTESTINE CANCER

ALTERNATE NAMES Small Intestine Adenocarcinoma; Small Intestine Sarcoma; Small Intestine Gastrointestinal Stromal Tumor; Small Intestine Carcinoid; Small Intestine Carcinoma

DESCRIPTION

Small Intestine Cancer forms in tissues of the small intestine. The most common type is adenocarcinoma. Most of these tumors occur in the part of the small intestine near the stomach. They may grow and block the intestine.

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

Diagnostic testing: The following may be used to diagnose the disease:

  • Physical exam and history;

  • Laboratory tests;

  • X-rays;

  • Barium enema;

  • Fecal occult blood test (FOBT);

  • Endoscopy;

  • Biopsy;

  • CT scan; and/or

  • Surgery.

Physical findings: Physical findings for small intestine cancer may include:

  • Blood in the stool (feces);

  • Dark/black feces;

  • Diarrhea;

  • A lump in the abdomen;

  • Pain or cramps in the abdomen;

  • Unexplained weight loss; and

  • Episodes of abdominal pain that may be accompanied by severe nausea or vomiting.

ICD-9: 152

ICD-10: C78.4
PROGRESSION The overall 5-year survival rate for resectable adenocarcinoma is only 20%.

TREATMENT

Treatment may include surgery, radiation, biologic therapy, and/or chemotherapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • A pathology report;

  • An operative report; or

  • A physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.

“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. “Unresectable” cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.
Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.17 Small Intestine Cancer that is inoperable, unresectable, recurrent, or with distant metastases meets the criteria in listing 13.17.
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 23022.330 Spinal Muscular Atrophy (SMA) - Types 0 and 1

COMPASSIONATE ALLOWANCE INFORMATION

SPINAL MUSCULAR ATROPHY (SMA) - TYPES 0 AND 1

ALTERNATE NAMES

Prenatal onset arthrogryposis multiplex congenital (SMA0); Werdnig-Hoffman disease-Infantile Muscular Atrophy (SMA1)

DESCRIPTION

Spinal Muscular Atrophy (SMA) of all types belongs to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children.

The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA is determined by the age of onset and the severity of symptoms. Type 0 is prenatal. Type 1 (also known as Werdnig-Hoffman disease or infantile-onset SMA) is evident at birth or within the first few months.

Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing difficulties, a weak sucking reflex, and impaired breathing. Legs tend to be more impaired than arms.

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

Diagnostic testing: The clinical evaluation includes a history and physical examination. Abnormalities may be detected during the pregnancy, especially with onset of fetal movements. or may reveal another affected family member. The history should define the onset of the disease and its progression.

Physical findings: Physical symptoms may include:

  • Weakness;

  • Hypotonia;

  • Absent reflexes;

  • Muscle twitching and contractures;

  • Muscle atrophy;

  • Labored breathing with use of accessory muscles; and

  • Malnutrition.

Molecular testing of the SMN1 gene is needed for confirmation of diagnosis. Carrier status must be defined before prenatal diagnosis is attempted.

ICD-9: 335.1

ICD-10: G12

PROGRESSION

The prognosis is poor for infants with SMA Types 0 and 1. SMA Type 0 infants never achieve any motor milestones and usually die between 2 and 6 months of age. SMA Type 1 children fare only slightly better in that they may achieve sitting with support only and survive to 2 years or less without respiratory assistance. SMA Type 1 children may survive longer if offered non-invasive respiratory support (NIPPV or tracheotomy).

TREATMENT

There is no cure for SMA. There is no treatment for the progressive weakness caused by the disease. Treatment consists of managing the symptoms and preventing complications. Individuals with SMA Type 0 or 1 require little, if any, involvement of an orthopedist due to their short life span. Supportive care is important. When nutrition/feeding become concerns, tube feeding via nasogastric tube or gastrostomy may be offered. Attention must be paid to the respiratory system, because affected people have difficulty clearing secretions. Respiratory complications are common.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: The diagnosis is confirmed by molecular genetic testing of the SMA1 gene. Homozygous deletion of exon 7 of the SMN1 gene is seen in 95-98% of the cases while 2-5% of the cases will have this deletion in one chromosome and an intragenic mutation of the SMN1 gene in the other chromosome.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets 110.08

111.22

Genetically confirmed SMA0 or SMA1
Equals 111.22 Pending genetic confirmation but with a clinical diagnosis of SMA0 or SMA1

* 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 23022.365 Batten Disease

COMPASSIONATE ALLOWANCE INFORMATION

BATTEN DISEASE
ALTERNATE NAMES

Neuronal Ceroid Lipofuscinoses (NCL); Ceroid Neuronal Lipofuscinosis (CNL); Spielmeyer-Vogt-Sjogren-Batten disease; Haltia-Santavuori; Jansky-Beilschowsky

DESCRIPTION

Batten Disease is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (NCL), and affects juveniles.

Batten disease is caused by a mutation in the gene CLN3, and usually appears between the ages of 5 and 10. Typical symptoms include vision problems, seizures, personality and behavior changes, slow learning, or clumsiness. Over time, these children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills.

Childhood NCLs are autosomal recessive disorders that are linked to a buildup of substances called lipofuscins (lipopigments) in the body’s tissues. These lipopigments are made up of fats and proteins that build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues.

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

Diagnostic testing: Because vision loss is often an early sign, Batten disease may first be discovered during an eye exam. Often, the child is referred to a neurologist.

Other diagnostic tests for Batten disease include:

  • Blood or urine tests;

  • Skin or tissue sampling;

  • Electroencephalogram (EEG);

  • Electrical studies of the eyes; and

  • Brain scans.

Enzyme measurement testing and DNA analysis can confirm a diagnosis of Batten disease.

Physical findings: Physical symptoms include:

  • Seizures;

  • Clumsiness and stumbling;

  • Curvature of the spine; and

  • Poor circulation in the legs and feet.

ICD-9: 330.1

ICD-10: E75.4

PROGRESSION

Children with Batten disease experience seizures, loss of sight and motor skills, and mental impairments, all of which increase in intensity over time. Batten disease is often fatal by the late teens and twenties.

TREATMENT

There is no cure for Batten disease. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • Clinical and neurological examination;

  • Blood and urine tests;

  • Skin or tissue sampling;

  • EEG;

  • Electrical studies of the eyes; and

  • Brain scans.

Suggested Listings for Evaluation:

DETERMINATIONS

LISTINGS

REMARKS

Meets

111.02

Clinical description of examinations and neurological findings, vision tests, as well as documentation of lab test findings are needed for this listing.

111.17

Clinical description of examinations and neurological findings, vision tests, as well as documentation of lab test findings are needed for this listing.
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 23022.375 Cri du Chat Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

CRI DU CHAT SYNDROME

ALTERNATE NAMES

5p- Syndrome; Cat's Cry Syndrome; Cat Cry Syndrome; Le Jeune Syndrome; Chromosome 5p- Syndrome; 5p deletion syndrome; Monosomy 5p; 5p minus syndrome; Chromosome 5p deletion syndrome; CdCS

DESCRIPTION

Cri du Chat syndrome is a hereditary chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a kitten or cat cry. The disorder is characterized by intellectual disability and delayed development, low birth weight, and failure to thrive. There are several distinctive physical features present such as small head, low-set ears, wide-set eyes, small jaw and partial webbing or fusing of fingers and toes, weak motor skills and muscle tone. Some children with cri-du-chat syndrome are also born with cardiac defects, scoliosis and cleft palates. Destructive behavior, self-mutilation and aggression are common.

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

Diagnostic testing: The diagnosis of Cri du Chat is generally made in the hospital at birth. Testing used to make the diagnosis include:

  • Genetic tests showing a partial deletion of chromosome 5p;

  • Florescence In Situ Hybridization (FISH) analysis showing chromosome deletion; and

  • A skull x-ray revealing an abnormal angle to the base of the skull.

Physical findings: The clinical symptoms of this impairment include:

  • A high-pitched cat-like cry;

  • Intellectual and developmental delays;

  • Distinctive facial features;

  • Small head size (microcephaly);

  • Wide-spaced eyes (hypertelorism);

  • Inguinal hernia, separation of the muscles in the belly area (diastasis recti);

  • Extra fold of skin over the inner corner of the eye (epicanthal folds);

  • Problems with the folding of the outer ears; and

  • Low birth weight and weak muscle tone (hypotonia) in infancy.

ICD-9 : 758.31

ICD-10: Q93.4

PROGRESSION

The outcome varies, but intellectual disability is usual. Half of those children affected learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.

TREATMENT

No specific treatment is available for this condition. The intellectual disability must be addressed, and counseling is recommended for the parents/caregivers.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Developmental assessment or psychological testing to address allegations of mental impairment;

  • X-rays showing skeletal abnormalities; and

  • Results of chromosome testing (karyotyping).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

This condition involves multiple body systems, and is expressly included in 110.08 B. A description of clinical findings and laboratory findings will be needed to adjudicate this case.

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 23022.400 Fukuyama Congenital Muscular Dystrophy

 

COMPASSIONATE ALLOWANCE INFORMATION

FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY

ALTERNATE NAMES

Cerebromuscular dystrophy, Fukuyama type; FCMD; Fukuyama CMD; Fukuyama muscular dystrophy; Fukuyama Syndrome; Fukuyama type congenital muscular dystrophy; Muscular dystrophy congenital, Fukuyama type; Muscular dystrophy congenital progressive, with intellectual disability; Muscular dystrophy congenital, with central nervous system involvement; Polymicrogyria with muscular dystrophy

DESCRIPTION

Fukuyama Congenital Muscular Dystrophy (FCMD) is an inherited condition that predominantly affects the muscles, brain, and eyes. FCMD is caused by a defect in the FKTN gene of both parents. FCMD affects the skeletal muscles, which the body uses for movement.

The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting,standing, and walking. FCMD also impairs brain development. People with this condition have a brain abnormality called cobblestone Type II Lissencephaly, in which the surface of the brain develops a bumpy, irregular appearance (like that of cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to severe intellectual disability. Social skills are less severely impaired. Other signs and symptoms of FCMD include impaired vision, eye abnormalities and slowly progressive heart problems after age 10.

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

Diagnostic testing: Genetic testing of the amniotic fluid, if available in the records,may be helpful in diagnosing the disorder. Lab tests showing immunostaining of muscle, muscle biopsy, serum creatine kinase concentration and brain MRI.

Physical findings: Physical symptoms include:

  • Muscle weakness;

  • Drooping eyelids and slack mouth;

  • Joint contractures; and

  • Difficulty or inability to stand or walk.

ICD-9: 359.0

ICD-10: G71.0

PROGRESSION

Most children with FCMD are never able to stand or walk, although some can sit without support and slide across the floor in a seated position. More than half of all affected children also experience seizures.

TREATMENT

There is no cure for FCMD. Treatment is supportive and focused on improving quality of life. Such treatment can involve physical therapy with stretching exercises to promote mobility and prevent contractures, weight control to avoid obesity, and instruction in the use of mechanical assistive devices to help ambulation and mobility. Management of gastroesophageal reflux and seizures, monitoring of respiratory problems and myocardial involvement is helpful.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination including a description of physical findings;

  • Family history;

  • Genetic testing with confirmed mutation in the FCMD gene;

  • Neurological examination;

  • Electromyography or nerve conduction tests; and

  • Blood and enzyme tests.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

111.13

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 23022.435 Late Infantile Neuronal Ceroid-Lipofuscinoses

 

 

COMPASSIONATE ALLOWANCE INFORMATION

LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSES

ALTERNATE NAMES

Jansky-Bielchowsky disease; NCL2; LINCL

DESCRIPTION

Late Infantile Neuronal Ceroid Lipofuscinoses (LINCL) is a rare, inherited disorder of the nerve cells that are caused by a mutation of the CLN2 gene. It is one form of a family of at least eight genetically separate neurodegenerative disorders. The condition causes excessive accumulation of lipfuscin in the body’s tissues. The lipofuscins are made up of fats and proteins. The lipofuscins build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys.

The late infantile form of this disease begins between the ages of 2 and 4, usually starting with partial and generalized seizures. Children with this disorder show signs of loss of muscle coordination (ataxia), regression of developmental milestones, followed by decline in intellectual and cognitive functioning, and rapidly progressing visual impairments. Some children may show mild-severe delays in speech development well before other symptoms appear.

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

Diagnostic testing: Testing for diagnosis of INCL includes:

  • Eye exam to detect a loss of vision;

  • Neurological exam;

  • EEG to record the electrical activity in the brain for seizures;

  • CT scan to detect any decaying brain areas;

  • MRI to create a picture of the brain;

  • Electrical studies of the eyes (VER and ERG) to detect eye problems;

  • Skin or tissue sampling to spot INCL deposits; and

  • Enzyme assay that looks for specific missing lysosomal enzymes.

Physical findings: Physical symptoms include:

  • Vision loss;

  • Decline in motor skills; and

  • Seizures.

ICD-9: 330.1

ICD-10: E75.4

PROGRESSION

Children with LINCL usually develop severe disabilities and have considerable nursing care needs by mid-childhood. LINCL progresses rapidly with survival depending on the degree of supportive care provided.

TREATMENT

There is no cure for LINCL. Brineura (cerliponase alfa) has shown to be effective in slowing the loss of motor function in children with NCL2. Seizures may be controlled or reduced with the use of anti-epileptic drugs. Additionally, physical, speech, and occupational therapies may help affected individuals retain functioning for as long as possible.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Laboratory reports showing enzyme activity of the PPT1 enzyme; and

  • Complete neurological, ophthalmological, and mental examinations (including intellectual and psychological functioning) may be needed if one of these examinations alone is insufficient to meet a listing.

Suggested Listings for Evaluation:
DETERMINATION LISTINGS REMARKS
Meets

110.08

111.02

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 23022.450 Merosin Deficient Congenital Muscular Dystrophy

COMPASSIONATE ALLOWANCE INFORMATION

MEROSIN DEFICIENT CONGENITAL MUSCULAR DYSTROPHY

ALTERNATE NAMES

Merosin Deficient CMD; Laminin alpha-2; LAMA2; Muscular Dystrophy Congenital; Merosin Positive CMD; LAMM; MDCMD; Congenital Muscular Dystrophy with laminin-alpha-2 deficiency; MDC1A; Classic CMD LAMA2

DESCRIPTION

Merosin Deficient Congenital Muscular Dystrophy (CMD) is a rare and highly severe type of muscular dystrophy. Mutations in the LAMA2 gene have been identified as the cause of congenital merosin-deficient CMD. Children with this form of CMD lack all or part of the muscle protein merosin, or laminin.

The condition initially presents around 6 months with extreme weakness and contractures, resulting in failure to ambulate. Breathing problems may require treatment with tracheotomy. Most infants have normal intelligence, but intellectual disability and epilepsy associated with Merosin Deficient CMD have been reported. The severity of this condition is determined by the amount of the merosin protein that the child has.

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

Diagnostic testing: Testing includes:

  • Magnetic resonance imaging (MRI) scan of the brain;.

  • Serum creatine kinase (CK) concentration;

  • Muscle biopsy;

  • Immunostaining of muscle; and

  • Genetic testing.

Physical findings: Physical symptoms include:

  • Muscle weakness (hypotonia);

  • Poor feeding;

  • Weak cry;

  • Breathing problems;

  • Congenital hip dislocation;

  • Scoliosis; and

  • Seizures.

ICD-9: 359.0 Congenital hereditary muscular dystrophy

ICD-10: G71.09 Congenital hereditary muscular dystrophy

PROGRESSION

Prognosis is poor. Most children affected by Merosin Deficient CMD do not survive into adolescence.

TREATMENT

There is currently no cure for Merosin Deficient CMD. Treatment is symptomatic and supportive. Treatment approaches include physiotherapy to reduce contracture and arthrodesis to limit deformation. Ventilatory support and tracheotomy, when necessary, have contributed to a marked increase of the life expectancy for the most severely affected patients.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Clinical examination including a description of physical findings, family history, genetic testing, electromyography or nerve conduction tests, and blood and enzyme tests.
Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

111.13

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 23022.490 Progressive Multifocal Leukoencephalopathy

 

COMPASSIONATE ALLOWANCE INFORMATION

PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY

ALTERNATE NAMES

PML

DESCRIPTION

Progressive Multifocal Leukoencephalopathy (PML) is a fatal disease of the brain that can occur in individuals with immunocompromising conditions such as AIDS, transplant patients, individuals undergoing chronic corticosteroid or immunosuppressive therapy, and individuals with cancer such as Hodgkin’s disease, lymphoma and sarcoidosis. The disease is caused by the John Cunningham polyomavirus (also known as polyomavirus JC or JC virus) which results in the loss of white matter (myelin) in multiple areas of the brain. Without the protection of myelin, nerve signals can not travel successfully from the brain to the rest of the body

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

Diagnostic testing:

  • A positive diagnosis of PML can be made with a brain biopsy and by observing the progressionof the disease;

  • An MRI scan can determine if there are any white matter lesions anda spinal tap can detect the presence of the JC virus;

  • Lab testing may include: cytologyexam of the urine; and

  • EEG and CT scans are also diagnostic of the disease.

Physical findings: The effects associated with PML vary from patient to patient; specific symptoms are related to the location and amount of damage in the brain, and evolve over the course of several days to several weeks. The most common symptoms include:

  • Clumsiness;

  • Progressive weakness;

  • Impaired vision and speech; and

  • Personality changes.

ICD-9: 046.3

ICD-10: A81.2

PROGRESSION

The progression of deficits leads to life-threatening disability and death over a period of weeks or months. The mortality rates for those with HIV-PML have fallen dramatically from approximately 90 percent to between 30 and 50 percent. For non-AIDS individuals with PML, the prognosis remains grim; the disease usually lasts for months and 80 percent die within the first 6 months, although spontaneous improvement has been reported. Those who survive PML can be left with severe neurological disabilities.

TREATMENT

The best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression, even at the expense of losing non-vital transplanted organs). In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • Clinical examination that includes a description of findings;

  • Urine analysis;

  • CT scan;

  • EEG;

  • MRI; and

  • HIV testing.

DETERMINATION

LISTING

REMARKS

Meets

14.11

114.11

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 23022.505 Subacute Sclerosing Panencephalitis

 

 

COMPASSIONATE ALLOWANCE INFORMATION

SUBACUTE SCLEROSING PANENCEPHALITIS

ALTERNATE NAMES

SSPE; Dawson Disease; Dawson’s Encephalitis; Panencephalitis Subacute Sclerosing; Subacute Inclusion Body Encephalitis

DESCRIPTION

Subacute Sclerosing Panencephalitis (SSPE) is a progressive neurological disorder of children and young adults that affects the central nervous system (CNS). It is a slow, but persistent, viral infection caused by defective measles virus and is universally fatal. The rate of occurrence is much higher (3:1) among males than females.

The initial symptoms of SSPE are subtle and include mild mental deterioration (such as memory loss) and changes in behavior (such as irritability) followed by disturbances in motor function. Seizures may also occur. Some people may become blind. In advanced stages of the disease, individuals may lose the ability to walk.

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

Diagnostic testing: Testing includes:

  • Electroencephalogram (EEG);

  • Blood tests; and

  • Brain CT or MRI scans.

Physical findings: Physical symptoms include:

  • Involuntary jerks and spasms;

  • Seizures;

  • Vision loss;

  • Impairment or loss of ambulation; and

  • Coma or vegetative state.

ICD-9: 046.2

ICD-10: A81.1

PROGRESSION

Most children with SSPE have a history of measles infection at an early age, usually younger than 2 years, followed by a latent period of 6 to 8 years before neurological symptoms begin. Despite the long interval between the measles infection and the onset of SSPE, researchers believe the initial infection of the brain occurs soon after the primary bout with measles and progresses slowly.

There is progressive deterioration to a comatose state, and then to a persistent vegetative state. The disease is always fatal, usually within 2 years of diagnosis. Death is usually the result of fever, heart failure, or the brain's inability to continue controlling the autonomic nervous system.

TREATMENT

There is no cure for SSPE. Anticonvulsant and antispasmodic drugs may control seizures and myoclonic jerks.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment and laboratory studies are needed to confirm the diagnosis;EEG showing widespread cortical dysfunction;

  • Lab tests showing eosinophilic inclusion bodies in the cytoplasm and nuclei of neurons and glial cells;

  • Lab tests showing marked elevation in CSF immunoglobulin;

  • Lab tests showing high Rubeola Ig G Antibody Titres in serum, elevated measles antibody titers in the CSF; and

  • Brain CT or MRI scan showing cortical atrophy and white matter lesions.

Suggested Listings fo r Evaluation:

DETERMINATION

LISTING

REMARKS

Meets 111.02

111.17

Equals 111.21
* 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 40 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 10/05/2020