Definition

A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.

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Synonyms

ULLRICH DISEASE
Ullrich scleroatonic muscular dystrophy

Cross References

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Child Terms

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Associated Genes

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Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy

Associated Genes

Associated Alleles

Associated Models