UCMD; Ullrich Disease; Ullrich Scleroatonic Muscular Dystrophy; Muscular Dystrophy Scleroatonic

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.

Diagnostic testing: The diagnosis is supported by:

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  Abnormal immunoreactivity for collagen VI on muscle biopsies;

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  Genetic testing;

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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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  Joint contractures;

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  Curvature of the spine (kyphosis);

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  Torticollis;

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  Hip dislocation;

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  Protruding heel bone;

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  Respiratory insufficiency;

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  Round face with drooping of the lower lids;

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  Prominent ears;

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  Skin changes (hyperkeratosis)

ICD-10: G71.2

Children with UCMD experience a progressive loss of ambulation and die of respiratory failure in the first decade of life.

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.

SUGGESTED PROGRAMMATIC ASSESSMENT*

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  Clinical examination including a description of physical findings;

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  Family history;

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  Genetic testing;

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  Electromyography or nerve conduction tests; and

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  Blood and enzyme tests.

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