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Ullrich congenital muscular dystrophy 1B

Summary

Ullrich congenital muscular dystrophy-1 (UCMD1) is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013). For general phenotypic information and a discussion of genetic heterogeneity of Ullrich congenital muscular dystrophy, see UCMD1A (254090). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B, COL6A2
    Summary: collagen type VI alpha 2 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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