神経筋疾患における遺伝学的問題点

Genetic issues concerning neuromuscular diseases

　神経筋疾患には，多くの遺伝性疾患が含まれている。これら神経筋疾患の遺伝に関し，いくつかの問題点を取り上げ，以下に論じたい。

Abstract

Genetic problems on some neuromuscular dis-eases are discussed.

1. X-linked muscular dystrophy: Families including both Duchenne and Becker types are presented. Patients with this disease rarely run a rapidly progressive course and death occurs early. Such cases are called an "aggressive form". Clinical similarities between severe and benign types of X-linked muscular dystrophy and the presence of families with both types suggest that the two are intimately related.

2. Neurogenic muscular atrophies simulating muscular dystrophies.