TN 16 (03-18)
DI 23022.520 Ullrich Congenital Muscular Dystrophy
ULLRICH CONGENITAL MUSCULAR DYSTROPHY
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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
loss of muscle tone (hypotonia), loose joints (hyperextensibility), muscle weakness
of the distal muscles (hands and feet), joint contractures, curvature of the spine
(kyphosis), a ‘wryneck’ (torticollis), hip dislocation, protruding heelbone (calcaneus),
respiratory insufficiency, a round face with drooping of the lower lids, prominent
ears (micrognathia) and skin changes (hyperkeratosis). Intelligence and brain activity
are normal. Cardiac function is normal.
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DIAGNOSTIC
TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
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The diagnosis is supported by abnormal immunoreactivity for collagen VI on muscle
biopsies, genetic testing, serum creatine kinase (CK) concentration, and immunostaining
of muscle tissue. EMG reveals myopathic changes while the nerve conduction velocity
(NCV) is normal.
ICD-9: 359.0 Congenital hereditary muscular dystrophy
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ONSET AND 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: Clinical examination including a description of physical findings, family history,
genetic testing, electromyography or nerve conduction tests, and blood and enzyme
tests.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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Meets Listing
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110.08
111.13
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Medical Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings
suggested to evaluate the claim. However, the decision to allow or deny the claim
rests with the adjudicator.