家族性タイプI筋線維萎縮症

DOI

書誌事項

タイトル別名
  • Familial Type I Fiber Atrophy

この論文をさがす

抄録

A 11-year-old boy and his 40-year-old mother were presented. Both patients had an identical clinical features with long, thin face, nonprogressive weakness and atrophy of the limbs since childhood, high arched palate, scoliosis and normal serum CRK levels. Muscle biopsies also showed completely identical change with selective atrophy of type I and hypertrophy of type II fibers. The changes of cellular structures of the fibers were almost negative except for rod bodies in the occasional areas in both cases. The disorder of this family might have been same as socalled nemaline myopathy, because the selective type I fiber atrophy has been common in certain number of the reported cases.<BR>However, in this family, the evidence for nemaline myopathy was minimal and was insufficient to establish the diagnosis. In addidtion, whether the disorder was neurogenic or myopathic in origin was also obscure.<BR>The connection of this family to congenital fiber type disproportion of Dubowitz was also discussed, and finally it was considered to be proper to term the neuromuscular disorder in this family simply “type I fiber atrophy”. Possible pathogenesis of selective type I fiber atrophy was briefly discussed.

収録刊行物

  • 脳と発達

    脳と発達 6 (5), 397-403, 1974

    THE JAPANESE SOCIETY OF CHILD NEUROLOGY

詳細情報 詳細情報について

問題の指摘

ページトップへ