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Congenital distal spinal muscular atrophy (congenital dSMA) is a hereditary genetic condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs. The condition is a result of a loss of anterior horn cells localized to lumbar and cervical regions of the spinal cord early in infancy, which in turn is caused by a mutation of the ''TRPV4'' gene. The disorder is inherited in an autosomal dominant manner. Arm muscle and function, as well as cardiac and respiratory functions are typically well preserved. ==Signs and symptoms== *Neurogenic muscle weakness *Atrophy (of lower and upper limbs) *Club foot *Arthrogryposis *Scoliosis *Platyspondyly *Pes cavus *Vocal cord paralysis 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「congenital distal spinal muscular atrophy」の詳細全文を読む スポンサード リンク
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