Mouton P, Maisonobe T, Behin A, Cohen L, Pierrot-Deseilligny C
Service de Neurologie, Hôpital Pitié-Salpetrière, Paris.
Presse Med. 1999 Mar 6;28(9):476-8.
Muscular dystrophy usually involves a deficiency in the proximal muscles. We report a case of distal muscular dystrophy in a Moroccan patient.
A 21-year-old Moroccan complained of progressive onset weakness of the lower limbs and frequent falls. The neurological examination demonstrated amyotrophy involving both legs and almost complete regression of the posterior muscle compartment. Clinical findings were confirmed by muscle scans. The electromyogram showed a progressive myogenic process. Creatine kinase was elevated. The severe dystrophic aspect was evidenced at muscle biopsy and led to the diagnosis of distal Miyoshi muscular dystrophy.
Miyoshi muscular dystrophy, a distal myopathy transmitted by autosomal recessive inheritance, is usually observed in young adults who present characteristic amyotrophy of the posterior leg muscles. The proximal muscles of the lower and upper limbs may become involved during the disease course. Approximately one-third of the patients require wheel chair assistance after 10 years. Creatine kinase levels are constantly elevated. The differential diagnosis with other muscular dystrophies predominating in the distal muscles, particularly Steinert's myotonic dystrophy and inclusion body myositis, is discussed.
肌肉萎缩症通常累及近端肌肉。我们报告一例摩洛哥患者的远端肌肉萎缩症病例。
一名21岁的摩洛哥人主诉下肢进行性无力且频繁跌倒。神经系统检查显示双腿肌萎缩，后肌间隔几乎完全退化。肌肉扫描证实了临床发现。肌电图显示进行性肌源性病变。肌酸激酶升高。肌肉活检显示严重的营养不良表现，从而诊断为远端宫下型肌营养不良症。
宫下型肌营养不良症是一种常染色体隐性遗传的远端肌病，通常在年轻成年人中出现，表现为特征性的小腿后侧肌肉萎缩。在疾病过程中，下肢和上肢的近端肌肉可能会受累。大约三分之一的患者在10年后需要轮椅辅助。肌酸激酶水平持续升高。文中讨论了与其他以远端肌肉为主的肌肉萎缩症的鉴别诊断，特别是斯坦纳特强直性肌营养不良症和包涵体肌炎。
