1966年Spiro等首次报导有特殊肌肉病理所见的肌管肌病.1979年作者诊断一例发病较迟,具有家族性的常染色体显性遗传的肌管肌病.患者、男,55岁.四肢弥漫性肌萎缩,肌力低下.其两弟、两子、两女皆患本病,均10岁后发病.患者出生、发育都正常.从小学起走路费劲.15岁始、双下肢无力,肌萎缩,用脚尖走路.20岁时在某医院做跟腱延长术.其肌萎缩进展缓慢.42岁时上肢与躯干也有弥漫性肌萎缩.上下楼困难.55岁时因患肺炎、呼吸困难而入院.体检:身长160厘米,体重29公斤,营养不良.两眼睑下垂,面、颈肌轻度萎缩,四肢远端弥漫性 Spiro and others reported for the first time in 1966 that myotube muscle myopathy was seen in specific muscle pathologies, and in 1979, one of the patients diagnosed later had a familial autosomal dominant myomyopathy. Diffuse muscular atrophy, low muscle strength.The two younger brothers, two children, two women are suffering from the disease, are 10 years old after the onset of disease.Patients were born and development are normal.Starting from elementary school to walk hard.At 15 years old, both lower extremities weakness, Muscular atrophy, toe walking .20 years old in a hospital to do Achilles tendon elongation .Symptoms of muscle atrophy progress.At the age of 42 and the upper limbs and torso are also diffuse muscular atrophy .Stairs and down difficulties .55 years old suffering from pneumonia, dyspnea And admitted to hospital Physical examination: 160 cm in length and weighing 29 kg, malnutrition Two ptosis, face, mild neck atrophy, distal diffuse diffuse