| Fukuyama congenital muscular dystrophy | |
|---|---|
| Classification and external resources | |
| OMIM | 253800 |
| DiseasesDB | 31555 |
Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan.[1] Fifteen cases were first described in 1960 by Fukuyama.[2]
In 1995, the disorder was linked to mutations in a gene coding for the protein fukutin (the FCMD gene).[3]
Mutations in the fukutin gene, located at human chromosome 9q31, are the cause of FCMD.[3][4] The disease is inherited in an autosomal recessive manner.[1] This means the defective gene responsible for the disorder is located on an autosome (chromosome 9 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
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