论文部分内容阅读
包涵体肌炎(IBM)主要表现为慢性进行性肢体无力和骨骼肌的特征性病理变化。多数病例为散发性,但近年来同胞受累也有报道,说明本病亦具有常染色体隐性遗传的特征。作者报道一个家族的两代人中有6个成员患IBM,并证实为常染色体显性遗传。本组临床资料包括:男性5例,女性1例。发病年龄:20岁3例,30岁2例,始终无症状1例。首发症状:下肢近端无力4例,上肢近端无力1例。主要表现:上肢近端轻瘫6例,远端轻瘫3例;下肢近端轻瘫6例,无1例下肢远端瘫痪。肌萎缩分布:两下肢近端及肩部肌肉1例,岗上肌及股部肌肉1例,肱二、三头肌、三角肌、胸肌及岗下肌1例,岗上、下肌2例,无肌萎缩1例。检查肌电图5例,其中显示肌原性与神经原性混合性异常4例,正常1例。活检6例,显示边缘空泡形成(rimmed
Inclusion body myositis (IBM) mainly manifested as chronic progressive limb weakness and skeletal muscle characteristic pathological changes. Most cases are sporadic, but in recent years, there have been reports of siblings, indicating that the disease also has autosomal recessive genetic characteristics. The authors report that six out of two generations of a family had an IBM and confirmed autosomal dominant inheritance. This group of clinical data include: 5 males and 1 female. Age of onset: 20 cases in 3 cases, 2 cases in 30 years old, always asymptomatic in 1 case. The first symptom: lower extremity weakness in 4 cases, upper extremity weakness in 1 case. The main manifestations: 6 cases of proximal paralysis of upper extremity, 3 cases of distal paresis; 6 cases of proximal paralysis of lower extremities, none of them distal paralyzed. Muscle atrophy distribution: two cases of proximal and shoulder muscles in 1 case, supraspinatus and femoral muscles in 1 case, brachial and triceps, deltoid, pectoralis and posterior inferior in 1 case, supraspinatus and inferior 2 cases , No muscle atrophy in 1 case. Check the EMG in 5 cases, which showed myogenic and neurogenic mixed abnormalities in 4 cases, normal in 1 case. Biopsy in 6 cases showed rimmed vacuolar formation (rimmed