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. 46, 08/11/2021
This transmittal contains two new Compassionate Allowance (CA) conditions in POMS subsection DI 23022. The new sections contain policy guidance for how to identify and evaluate CAL conditions.
Summary of Changes
DI 23022.144 Charlevoix-Saguenay Spastic Ataxia
The new section contain policy guidance for how to identify and evaluate Charlevoix-Saguenay Spastic Ataxia.
DI 23022.940 Duchenne Muscular Dystrophy - Adult
The new section contain policy guidance for how to identify and evaluate Duchenne Muscular Dystrophy - Adult.
COMPASSIONATE ALLOWANCES INFORMATION
CHARLEVOIX-SAGUENAY SPASTIC ATAXIA
Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay; Spastic Ataxia of Charlevoix-Saguenay; ARSACS
Charlevoix-Saguenay Spastic Ataxia is a rare autosomal recessive disorder first described in families from the Charlevoix-Saguenay area of Quebec, Canada but rare cases have been reported world-wide. Clinical findings include cerebellar ataxia, spasticity, and peripheral nerve involvement with sensory loss and weakness. It is caused by mutations in SACS gene with results in an unstable sacsin protein, which is thought to impair organization of neurofilaments. The abnormal mutation must be present in both parents who are carriers and not affected. Diagnosis is suspected on clinical history and findings and is confirmed by genetic testing.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9/ICD-10 CM
Diagnostic testing: A diagnosis of Charlevoix-Saguenay Spastic Ataxia is established by:
Clinical history and physical examination;
MRI and CT scans revealing atrophy of the upper cerebellar vermis and cervical spinal cord;
Signs of both axonal and demyelinating neuropathy by EMG/NCV;
Ophthalmological examination; and
Genetic testing for the detection of SACS mutations.
Physical findings:This disease is characterized by:
Early-onset ataxia with incoordination and difficulties with walking;
Reduced sensation and weakness in the arms and legs (peripheral neuropathy);
Muscle wasting (amyotrophy);
Involuntary eye movements (nystagmus) and abnormal retinal pigmentation;
Difficulty swallowing (dysphagia) and speaking (dysarthria);
Finger and foot deformities;
Hypermyelination of the retinal nerve fibers;
Mitral valve prolapse;
High arched feet (pes cavus);
Recurrent seizures (epilepsy); and
Usually, the gait difficulties are first noted as the child begins to walk between 12-18 months of age, with onset in the second year of life. This condition progresses slowly with a wheelchair required by thirties or forties.
There is no cure for this disorder and treatment is supportive. Treatment is symptomatic aiming towards controlling the spasticity and may include physiotherapy, pharmacotherapy and use of ankle-foot orthoses.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
Clinical examination that describes the diagnostic features of the impairment; and
Genetic testing for SACS mutations.
Suggested Listings for Evaluation
Listing level findings must be present to meet listing.
*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.
COMPASSIONATES ALLOWANCE INFORMATION
DUCHENNE MUSCULAR DYSTROPHY - ADULT
DMD; Duchenne Syndrome; Dystrophinopathy, Duchenne Type
Duchenne Muscular Dystrophy is a progressive genetic disorder characterized by muscle weakness and wasting, loss of motor skills and ambulation, and, eventually, heart failure and respiratory failure. The Duchenne type is the most common of the muscular dystrophies.
Cardiac complications associated with Duchenne Muscular Dystrophy begin early in life, and include weak or irregular heartbeat. In late adolescence and adulthood, the heart enlarges, causing symptoms to worsen. This condition, called dilated cardiomyopathy, is a leading cause of death in Duchenne Muscular Dystrophy patients.
Duchenne Muscular Dystrophy is caused by a mutation on the DMD gene. The mutation prevents the production of dystrophin, a protein critical to the health and growth of muscle cells. The condition follows an x-linked recessive inheritance pattern and almost exclusively affects males.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
Diagnostic testing: Genetic testing for the specific mutation in the DMD gene that causes Duchenne Muscular Dystrophy is necessary to confirm the diagnosis. A milder condition known as Becker Muscular Dystrophy is associated with a different mutation in the same gene.
Physical findings: Physical symptoms include:
Dyspraxia (deficit in motor control);
Progressive inability to stand and walk;
Joint contracture (painful stiffness);
Cognitive and intellectual impairment;
Behavioral and mood disorders,
Although onset of Duchenne Muscular Dystrophy occurs in early childhood, progression of symptoms through juvenile and adolescent ages is unpredictable and can be slowed to some degree with medication.
Nearly all males diagnosed with Duchenne will require the use of a wheelchair by attainment of age 18, and complications from cardiomyopathy and respiratory issues typically lead to death before the age of 30.
There is no cure for Duchenne Muscular Dystrophy. Treatment is symptom-specific and supportive. Corticosteroids have been shown to somewhat slow progression of muscle wasting during childhood and adolescence. Breathing assist devices can prolong life in later-stage patients with respiratory problems.
Clinical history and examination that describes the diagnostic features of the impairment;
Positive multiplex-ligation dependent probe amplification (MLPA) genetic test for large deletion/duplication mutations on the DMD gene, and microdeletion/microduplication mutations if necessary;
Family history to identify related female carriers; and
Treatment records including surgical procedures and progress notes.
Suggested Listings for Evaluation:
Although Duchenne Muscular Dystrophy is typically diagnosed early in life, claimants under age 18 are significantly less likely to exhibit listing-level impairment.
Criteria for evaluating child claims involving Duchenne Muscular Dystrophy are provided in 111.13.
* 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.