遗传性成人近端型脊肌萎缩症（附3个家系分析及肌肉病理组化观察）

ADULT-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY: ANALYSIS OF THREE PEDIGREES AND HISTOCHEMICAL OBSERVATION OF BIOPSIED MUSCLE

报告３个家系１８例成人近端型脊肌萎缩症，其中２个家系为常染色体显性遗传，另一家系的遗传方式无法确定。３个先证者肌活检病理组化观察发现，肌萎缩以Ⅱ型纤维为主，伴Ⅰ型纤维优势，同型肌群化及靶纤维少见，Ⅰ型纤维内肌膜下线粒体增多。

Adult-onset proximial spinal muscular atrophy was reported in eighteen patients of three pedigrees. Two of them were on autosomal dominant inheritance and the other can not be determinated. The histochemical observation of biopsied muscle from three probands showed that muscular atrophy were mainly found in type Ⅱ fibers and type Ⅰ fibers were significantly dominant. Increased mitochondria beneath the sarcoplasmic membrane may be referable to the active functions of muscle fibers in compensatory state. Fiber type grouping and target fibers were rarely found in this disease.