Thomas P K, Schott G D, Morgan-Hughes J A
J Neurol Neurosurg Psychiatry. 1975 Oct;38(10):1008-15. doi: 10.1136/jnnp.38.10.1008.
Six cases are described of muscle weakness and wasting of scapuloperoneal distribution with an onset in early adult or middle life and a relatively benign progression. One case also showed mild facial weakness. Four cases were probably sporadic but in two, a mother and daughter, autosomal dominant inheritance was likely. Electromyographic studies demonstrated myopathic features in all, and this was confirmed by muscle biopsy in five. Electrocardiographic abnormalities were present in three cases, but their significance is uncertain. It is considered that adult onset scapuloperoneal myopathy constitutes a clinically distinct condition.
本文描述了6例肩胛腓骨型肌无力和萎缩的病例,这些病例发病于成年早期或中年期,病情进展相对良性。其中1例还表现出轻度面部肌无力。4例可能为散发性,但有2例为母女,可能为常染色体显性遗传。肌电图研究显示所有病例均有肌病特征,5例经肌肉活检得以证实。3例存在心电图异常,但其意义尚不确定。认为成人起病的肩胛腓骨型肌病是一种临床特征明显的疾病。