PROGRAM OPERATIONS MANUAL SYSTEMPart DI – Disability InsuranceChapter 230 – Special IssuesSubchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS)Transmittal No. 49, 10/25/2021
This is a Quick Action Transmittal. These revisions do not change or introduce new policy or procedure
Summary of Changes
DI 23022.347 X-Linked Myotubular Myopathy
Updated the suggested listings for evaluation:
Deleted 1.02 from "Meets" row
Added 1.18to "Meets" row
Deleted 101.02 from "Meets" row
Added 101.18to "Meets" row
DI 23022.395 Fibrodysplasia Ossificans Progressiva
Deleted 101.02 A & B from "Meets" row
DI 23022.835 Nephrogenic Systemic Fibrosis
Deleted 1.02 A or B from "Meets" row
DI 23022.939 Congenital Lymphedema
Deleted 101.02 A or B from "Meets" row
Added 101.18 to "Meets" row
Deleted 101.08 to "Equals" row
Added 101.21 to "Equals" row
DI 23022.981 Roberts Syndrome
Added 1.18 to "Meets" row
COMPASSIONATE ALLOWANCES INFORMATION
Myotubular Myopathy; X-Linked Centronuclear Myopathy; Centronuclear Myopathy; Classic X-Linked Myotubular Myopathy
X-Linked Myotubular Myopathy (XLMTM) is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. Individuals with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that is usually evident at birth. These muscle problems impair the development of motor skills such as sitting, standing, and walking. Affected infants may also have difficulties with feeding due to muscle weakness. Individuals with X-linked myotubular myopathy frequently lack the muscle strength for unassisted breathing and must be supported with a mechanical ventilator. Some individuals need full-time breathing assistance, while some require only periodic assisted ventilation, typically during sleep. Affected individuals may also have weakness in the muscles that control eye movement and other muscles of the face, absent reflexes, and musculoskeletal deformities or contractures.
Because of their severe breathing problems, individuals with XLMTM usually survive only into early childhood; however, some people with this condition live into adulthood.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS,
Diagnostic testing: Once clinical manifestations have occurred, the diagnosis is established by a combination of clinical examination, muscle biopsy, and genetic testing.
Physical findings: The physical findings of XLMTM may include:
Difficulties with feeding due to muscle weakness;
Weakness in the eye muscles that control eye movement (ophthalmoplegia);
Absent reflexes (areflexia);
An abnormal curvature of the spine (scoliosis);
Joint contractures of the hips and knees; and
A large head with a narrow and elongated face.
XLMTM presents at birth with weakness, hypotonia, and respiratory distress. Because of their severe breathing problems, individuals with severe XLMTM usually have a high incidence of death from respiratory failure in infancy or early childhood. Most males will fail to reach milestones and will not gain ambulation.
Treatment is supportive and symptomatic. Tracheostomy, G-tube feeding, and assistive communication devices are often required. Medical subspecialists should address specific medical complications (for example, scoliosis).
SUGGESTED PROGRAMMATIC ASSESSMENT*
Listing level musculoskeletal findings must be documented; diagnosis of XLMTM or lab testing results alone does not meet listing severity.
* 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.
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
FOP; Myositis Ossificans Progressiva; Progressive Myositis Ossificans; Progressive Ossifying Myositis; Munchmeyer Disease
Fibrodysplasia Ossificans Progressiva (FOP) is an inherited disorder in which muscle tissue and connective tissue such as tendons, muscles and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that progressively locks joints in place and makes movement difficult or impossible.
This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs, rendering them permanently unable to bend or move. Any small injury to connective tissue (muscles, ligaments, and tendons) can result in the formation of hard bone around the damaged site. The extra bone that develops is normal, but grows in the wrong place.
Surgical attempts to remove the extra, unwanted bone results in an explosive growth of more bone. Inability to open the mouth may cause difficulty speaking or eating.
Over time, individuals with this disorder may experience malnutrition due to their eating problems. These individuals may also have breathing difficulties because of extra bone formation around the rib cage that restricts expansion of the lungs.
FOP is caused by mutations in the ACVR1 gene related to the “BMP pathway”, which is associated with the formation of the skeleton in the embryo and the repair of the skeleton following birth.
FOP is a very rare genetic disease affecting approximately 1 in 2 million people worldwide.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
Physical findings :
Malformations of the big (great) toes;
Short thumbs; curved fifth finger;
Diminished range of motion (ROM) of the joints, especially the neck, spine, shoulder girdle and arms;
Tall narrow vertebral bodies;
Fusion of the facet joints between C2 and C7;
Decreased oral aperture (opening of the mouth); and
Diminished chest expansion.
ICD-9 : 728.11
Currently there are no known effective treatments. Medication is only helpful to manage symptoms of pain, inflammation, etc. during acute flare-ups. Surgical attempts to remove the extra, unwanted bone may result in growth of more bone.
FOP usually begins during early childhood and progresses throughout life. Most children with FOP develop episodic, painful inflammatory soft tissue swellings (or flare-ups) during the first decade of life. Life expectancy is variable and usually related to the extent of calcification and the organ systems affected.
Suggested MER for Evaluation:
Clinical history and examination that describes the diagnostic features of the impairment;
MRI/CT of muscles and joints; and
Laboratory tests results documenting mutations in the ACVR1 gene.
Suggested Listings for Evaluation:
NEPHROGENIC SYSTEMIC FIBROSIS
Nephrogenic Fibrosing Dermopathy; NSD; NSF
Nephrogenic Systemic Fibrosis (NSF) is a rare disease involving severe thickening and hardening of the skin (fibrosis) overlying the extremities and trunk. The cause of nephrogenic systemic fibrosis is attributed to the connexation of renal insufficiency and gadolinium exposure from imaging studies. The exact degree of renal insufficiency that sets up the development of nephrogenic systemic fibrosis is not known. Risk factors include advanced chronic kidney disease (stages 3, 4 and 5) and acute or chronic inflammatory insults.
Symptoms of NSF include painful, burning itching skin, red/dark areas on the skin, skin thickening, edema, loss of flexibility and severe limitations in movement at the joints of the ankles, knees, feet, arms, wrists, and hands, and raised yellow discoloration on sclera. Fibrosis (thickening) involving the internal organs, including the lungs (with reduced diffusing capacity for carbon monoxide) and diaphragm (with respiratory failure), myocardium, pericardium and pleura has been reported. NSF affects males and females in approximately equal numbers. NSF may occur in children but most commonly affects the middle-aged.
Diagnostic testing : Diagnostic testing may include positive antinuclear antibody tests and the presence of hepatitis B or C. All people affected with NSF have a history of renal insufficiency of varying severity and duration and gadolinium exposure. A small number of individuals have primarily liver disease. Most individuals have had treatments that include hemodialysis, peritoneal dialysis or renal transplantation. However, neither dialysis nor renal transplantation is a prerequisite for NSF. Histological findings may include thickened collagen bundles with surrounding clefts, early lesions and spindle cells.
Physical findings: Symptoms of NSF include:
Painful, burning itching skin;
Red/dark areas on the skin;
Skin fibrosis (scarring/thickening);
Loss of flexibility and severe limitations in movement at the joints of the ankles, knees, feet, arms, wrists, and hands;
Raised yellow discoloration on sclera; and
Fibrosis involving the internal organs, including the lungs (with reduced diffusing capacity for carbon monoxide) and diaphragm (with respiratory failure), myocardium, pericardium and pleura.
NSF is a debilitating and sometimes fatal disease. People with a fulminant (disease developing or progressing suddenly) form of NSF may become wheelchair dependent within weeks due to development of flexion contractures and loss of mobility. Death may result from complications of kidney disease or transplant surgery. In addition, fractures and falls from wheelchair dependency may be fatal.
NSF is usually a chronic progressive condition. Rare cases of partial to complete spontaneous resolution have been reported in the absence of specific therapy, with the return of renal function. A favorable response to medical intervention is anecdotal. Of all treatments, extracorporeal photopheresis (ECP) seems to provide the best, albeit mild and extremely expensive treatment modality for nephrogenic systemic fibrosis.
Steroids and massage therapies may be used to decrease the discomfort associated with skin thickening and connective tissue formation.
Clinical information documenting chronic kidney disease;
Clinical examination including description of fibrotic changes and description of functional limitations; and
Laboratory studies documenting serum creatinine in the blood.
Use 6.03 when the claimant is on dialysis.
Use 106.03 when the claimant is on dialysis.
Use 106.05 when the lab findings are at the required level.
Consider respiratory or cardiovascular listings, as appropriate, when the fibrosis affects the lungs or heart.
Congenital Hereditary Lymphedema; Primary Lymphedema; Congenital Primary Lymphedema; Milroy disease
Lymphedema is swelling that is caused by the abnormal accumulation of lymph fluid in tissues, resulting from malfunctions in the lymphatic system or blockage of lymph vessels. Congenital Lymphedema is a rare type of primary lymphedema (non-acquired) occurring at birth. In most cases, lymphedema primarily affects the lower limbs (starting with the feet) but it can also affect the upper limbs. The exact cause of congenital lymphedema is unknown, but the disorder may be part of a congenital syndrome. Females are twice as likely as males to have congenital lymphedema.
Biopsy reports documenting lymphatic channel anaplasia;
CT, MRI, or nuclear medicine scans; and
Doppler ultrasonography is used to evaluate flow in the lymphatic and venous systems.
Physical findings: Physical findings of this condition may include:
Lymphatic pathway dysplasia (abnormal development of the lymphatic vessels that transports lymphatic fluid;
Aplasia (congenital absence of a limb, organ or other body part);
Hypoplasia (incomplete development of an organ or part);
Heavy, swollen lower or upper limbs that may be shorter than unaffected limbs, or may have digital anomalies; and
Skin changes such as tightness, thickening, discoloration or hardening; there may be signs of infection.
This disorder occurs at birth or soon after and is most often bilateral. In some cases, the lymphedema may spontaneously improve. Other syndromic types of lymphedema have later onset, most often during puberty.
There is no cure for lymphedema. Treatment is symptomatic, and surgery is considered to be palliative. Infections are a major risk and require prompt initiation of antibiotics and wound care. Persons with lymphedema are treated with compression bandages and manual lymph drainage massage techniques to move the extra fluid to other parts of the body so that the body can excrete it.
Doppler ultrasound reports documenting abnormal flow in lymphatic and venous systems; and
Listing level severity must be documented.
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
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
Diagnostic testing: Molecular genetic testing for ESCO2 gene mutations, resulting in absence of functional ESCO2 protein.
Symmetric, shortened arm and leg bones (hypomelia), or sometimes hands and feet located very close to the body (phocomelia);
Missing toes or fingers;
Microcephaly (abnormally small head);
Micrognathia (undersized lower jaw);
Encephalocele (protrusion of the brain from the skull); and
Heart, kidney, or genital abnormalities.
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.
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.
Clinical examination that describes diagnostic features of the impairment;
Molecular genetic testing for ESCO2 gene mutations; and
Developmental assessment or psychological testing.