伴关节挛缩的遗传性肌肉病

Hereditary Myopathy with Joint Contracture

肌肉病按病因可分为先天遗传性和后天获得性,临床表现并不特异,包括肌无力、肌肉萎缩、肌肉肥大、关节挛缩等,部分患者也可能会有心肌、呼吸肌、皮肤、中枢及周围神经系统等骨骼肌外受累表现。一些患者肌无力症状较轻,而关节挛缩或脊柱强直症状较明显,这一特殊表现为疾病诊断提供了线索。临床接诊时,医生需详细询问患者家族史,认真进行神经系统查体以及心肌和呼吸系统的综合评估,从而作出初步诊断;肌电图、肌肉MRI、骨骼肌/皮肤活检和基因检测等辅助检查有助于明确诊断。本文重点介绍伴关节挛缩的遗传性肌肉病,包括胶原纤维病Ⅵ型、Emery-Dreifuss肌营养不良、SEPN1相关肌病以及FHL1相关肌病等,以提高临床对该病的认知。

Muscle disease can be divided into hereditary and acquired by pathogenesis.The clinical manifestations are unspecific,including muscle weakness,muscle hypertrophy,muscle atrophy,and joint con-tractures.Besides,it is likely that a spectrum of extramusclar symptoms,such as cardiac,respiratory,cutane-ous,central and peripheral nervous system,may be involved.However,the specific manifestation of joint con-tractures or spine rigidity prevails over muscle weakness in ambulant patients and is of a high diagnostic value.To make a preliminary diagnosis,clinicians need to ask in detail about the family history and conduct a compre-hensive neurological examination and a careful assessment of cardiac muscle and respiratory system.Auxiliary examinations such as electromyography,muscle MRI,biopsy of skeletal muscle or skin,and genetic test help to confirm the diagnosis.This article focuses on hereditary muscle diseases with contracture,including collagenⅥ-related myopathies,Emery-Dreifuss muscular dystrophies,the SEPN1 related myopathies,and FHL1 related myopathies.