Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
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伴有结蛋白储存的常染色体显性远端肌病：大亲属关系的临床病理学和电生理学研究
DOI：
10.1002/mus.880170204
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发表时间：
1994
期刊：
影响因子：
3.4
通讯作者：
H. Schmalbruch
中科院分区：
文献类型：
--
作者：
S. Horowitz;H. Schmalbruch
描述了一个常染色体显性远端肌病的大家族，这种疾病的性质促使对这些疾病的现有分类进行重新评估。这种疾病始于成年早期到中期，由于小腿远端无力而导致步态障碍，并在5-10年内进展到所有肢体，以及球、呼吸和面部肌肉。心脏受累频繁，表现为心律失常、传导阻滞和充血性衰竭，导致过早死亡。肌电图上有明显的自发活动、短时运动单位电位和多相。在疾病的不同阶段，来自多个家庭成员的肌肉活检的特征是结蛋白的储存和自噬作用。这种远端肌病在进展速度、致死过程和病理特征方面不同于其他表型相似的疾病。结蛋白过度积聚在这种和其他肌病和心脏疾病中的作用和特异性尚不清楚。©1994 John Wiley&Sons，Inc.
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. © 1994 John Wiley & Sons, Inc.