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Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary neuromuscular disorder that causes muscle weakness, generally nonprogressive, of varying severity. "Myopathy" means "muscle disease," and a biopsy of muscle from a person with nemaline myopathy shows abnormal thread-like〔(nemaline myopathy )〕 rods, called nemaline bodies, in the muscle cells. People with nemaline myopathy (or NM) usually experience delayed motor development and weakness in the arm, leg, trunk, throat, and face muscles. The disorder is often clinically categorized into several groups, including mild (typical), intermediate, severe, and adult-onset; however, these distinctions are somewhat ambiguous, as the categories frequently overlap. Respiratory problems are a primary concern for people with all forms of NM, and though in some severe cases they may threaten life expectancy, aggressive and proactive care allows most individuals to survive and lead active lives. Nemaline myopathy is one of forty neuromuscular diseases covered by the Muscular Dystrophy Association. ==Genetic qualities== Nemaline myopathy is a clinically and genetically heterogeneous disorder. Both autosomal dominant and autosomal recessive forms occur. Genetic mutations found to be responsible for the disorder include The physical capabilities of a given person with NM do not correlate well either with genotype or with muscle pathology as observed in the biopsy. 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「Nemaline myopathy」の詳細全文を読む スポンサード リンク
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