GTR Home > Conditions/Phenotypes > Progressive myositis ossificans

Summary

Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner, with most patients being confined to a wheelchair by the third decade of life and requiring lifelong care (summary by Petrie et al., 2009). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI, ACVR1
    Summary: activin A receptor type 1

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