Horowitz S H, Schmalbruch H
Department of Neurology, Albany Medical College, NY 12208.
Muscle Nerve. 1994 Feb;17(2):151-60. doi: 10.1002/mus.880170204.
A large family is described with an autosomal dominant distal myopathy, the nature of which prompts the reevaluation of current classifications of these disorders. The disease begins in early to middle adulthood with gait disturbance due to distal leg weakness, and progresses over 5-10 years to involve all extremities, as well as bulbar, respiratory, and facial muscles. There is frequent cardiac involvement, manifest by arrhythmias, conduction blocks, and congestive failure, resulting in premature demise. On electromyography there is prominent spontaneous activity, short duration motor unit potentials, and polyphasia. Muscle biopsies from multiple family members at different stages of the disease are characterized by desmin storage and autophagocytosis. This distal myopathy differs from other phenotypically similar disorders in its rapidity of progression, fatal course and pathologic features. The role and specificity of excessive desmin accumulation in this and other myopathic and cardiac disorders are unknown.
本文描述了一个患有常染色体显性遗传性远端肌病的大家族，该病的特性促使人们对当前这些疾病的分类进行重新评估。该病始于成年早期至中年期，因小腿远端无力而出现步态障碍，并在5至10年内进展至累及所有肢体，以及延髓、呼吸和面部肌肉。常伴有心脏受累，表现为心律失常、传导阻滞和充血性心力衰竭，导致过早死亡。肌电图显示有明显的自发活动、短时限运动单位电位和多相波。来自疾病不同阶段的多个家族成员的肌肉活检特征为结蛋白蓄积和自噬作用。这种远端肌病在进展速度、致命病程和病理特征方面与其他表型相似的疾病不同。结蛋白过度蓄积在这种疾病以及其他肌病和心脏疾病中的作用和特异性尚不清楚。
