Program Operations Manual System (POMS)
TN 38 (09-20)
DI 23022.520 Ullrich Congenital Muscular Dystrophy
COMPASSIONATE ALLOWANCES INFORMATION
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ULLRICH
CONGENITAL MUSCULAR DYSTROPHY |
ALTERNATE NAMES
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UCMD; Ullrich Disease; Ullrich Scleroatonic Muscular Dystrophy; Muscular Dystrophy
Scleroatonic
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DESCRIPTION
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Ullrich Congenital Muscular Dystrophy (UCMD) is a rare form of congenital muscular dystrophy that is caused by mutations in the
gene coding for the alpha chains of collagen VI (COL6A1, COL6A2, COL6A3), adversely
affecting the production of collagen VI, which is needed for normal connective tissue
and muscle function.
UCMD is present at birth. Children born with UCMD generally have . Intelligence and
brain activity are normal. Cardiac function is normal.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING
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Diagnostic testing: The diagnosis is supported by:
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Abnormal immunoreactivity for collagen VI on muscle biopsies;
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Serum creatine kinase (CK) concentration; and
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Immunostaining of muscle tissue.
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EMG revealing myopathic changes with normal nerve conduction velocity (NCV).
Physical
findings: Physical symptoms include:
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Loss of muscle tone (hypotonia);
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Loose joints (hyperextensibility);
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Muscle weakness in the hands and feet;
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Curvature of the spine (kyphosis);
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Respiratory insufficiency;
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Round face with drooping of the lower lids;
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Skin changes (hyperkeratosis)
ICD-9:
359.0
ICD-10:
G71.2
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PROGRESSION
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Children with UCMD experience a progressive loss of ambulation and die of respiratory
failure in the first decade of life.
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TREATMENT
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There is currently no cure for UCMD. Callipers (leg splints) are often used to assist
a child to walk, and sleep studies are used to monitor the breathing quality during
sleep.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for
Evaluation:
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Clinical examination including a description of physical findings;
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Electromyography or nerve conduction tests; and
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Suggested Listings for
Evaluation: |
DETERMINATION
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LISTING
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REMARKS
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Meets |
110.08
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111.13
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Equals |
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* 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.
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