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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.〔(【引用サイトリンク】url=http://neuromuscular.wustl.edu/syncm.html#fukuyama )〕 Fifteen cases were first described in 1960 by 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.〔(【引用サイトリンク】url=http://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy )〕 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. == Symptoms == Fukuyama congenital muscular dystrophy is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development. Initial symptoms of FCMD present in early infancy as a weak cry, decreased ability to feed, and poor muscle tone. Marked differences in facial appearance occur due to decreased muscle tone. These include drooping eyelids and an partially open mouth. The axial and appendicular muscles become atrophied, which causes difficulty developing motor skills including standing, sitting, and walking. For most of these children, the maximum motor function they will ever obtain will be sitting upright on their buttocks and sliding. The majority of children with FCMD will never walk. Seizures are also common in children with FCMD occurring in over fifty percent of afflicted children. Myocardium can also be affected by FCMD. After 10 years of age, children with FCMD develop continually worsening heart problems. Swallowing (peristalsis) may also be affected. Specific skeletal abnormalities include contractures and kyphoscoliosis. In addition to the muscular abnormalities, Fukuyama congenital muscular dystrophy also affects the nervous system and various associated parts. FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone lissencephaly as well as various other malformations, notably micropolygyria. These children also experience delayed myelination in the brain. Because of the abnormal physical development of the brain, children affected by FCMD develop motor and speech functioning much more slowly. The also have impaired intellectual capabilities including mental retardation. Children with FCMD may also experience atypical optic features including decreased visual capabilities. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Fukuyama congenital muscular dystrophy」の詳細全文を読む スポンサード リンク
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