Isenberg D A, Kahn P A
Postgrad Med J. 1982 Sep;58(683):554-7. doi: 10.1136/pgmj.58.683.554.
A 14-year-old boy with a long history of distal muscle weakness affecting primarily and predominantly the upper limbs is described. There is a family history of pes cavus and congenital dislocation of the hip. Electromyography and histopathological studies of skeletal muscle showed conclusive evidence of a neurogenic muscular disorder, and excluded primary muscle disease. The muscle biopsy showed group atrophy. As many target fibres which are identical to structured cores were a prominent feature of the biopsy, central core disease was considered. However, it was concluded on clinical, neurophysiological and histological evidence that the patient was suffering from distal spinal muscular atrophy of an intermediate type designated by previous authors. A review of the current concepts of distal muscle weakness is included.
本文描述了一名14岁男孩，其有长期的远端肌肉无力病史，主要且主要影响上肢。有高弓足和先天性髋关节脱位的家族史。骨骼肌的肌电图和组织病理学研究显示了神经源性肌肉疾病的确凿证据，并排除了原发性肌肉疾病。肌肉活检显示群组性萎缩。由于许多与结构核心相同的靶纤维是活检的一个突出特征，因此考虑为中央核心病。然而，根据临床、神经生理学和组织学证据得出结论，该患者患有先前作者指定的中间型远端脊髓性肌萎缩症。文中还包括了对当前远端肌肉无力概念的综述。
