Fukuyama congenital muscular dystrophy
| Fukuyama congenital muscular dystrophy | |
|---|---|
| Other names | Congenital muscular dystrophy, Fukuyama type |
| Fukuyama congenital muscular dystrophy has an autosomal recessive pattern of inheritance | |
| Symptoms | Seizures |
| Causes | FKTN gene mutation |
| Diagnostic method | Serum creatine kinase concentration and muscle biopsies |
| Treatment | Physical therapy |
Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients; fifteen cases were first described on 1960 by Dr. Yukio Fukuyama.
FCMD mainly affects the brain, eyes, and muscles, in particular, the disorder affects development of the skeletal muscles leading to weakness and deformed appearances, and brain development is blunted affecting cognitive functioning as well as social skills. In 1995, the disorder was linked to mutations in a gene coding for the protein fukutin (the FCMD gene). Fukuyama congenital muscular dystrophy is the second most prevalent form of muscular dystrophy in Japan. One out of every 90 people in Japan is a heterozygous carrier.