CAJ | 학술논문

目的：报道1例以关节挛缩伴强直脊柱综合征为主要表现的肢带型肌营养不良2A(LGMD2A)病例，提高对以关节挛缩及强直脊柱综合征为主要表型的肌肉疾病的认识。方法收集1例以关节挛缩伴强直脊柱综合征为表征最终确诊为LGMD2A患者的临床资料、肌肉活检(病理染色、Western blot)、基因检测和肌肉影像学等资料，结合文献复习进行分析。结果患者除早期出现的全身关节挛缩伴强直脊柱外，合并有四肢近端肌肉萎缩、无力，明显翼状肩。家族史提示常染色体隐性或X连锁隐性遗传可能；肌肉MRI示大腿后群、内侧群，小腿后群显著受累；肌肉病理检查示肌营养不良表现；Western blot检测示calpain-3条带完全缺失，CAPN3基因检测示患者携带c.534A>G(I178M)及c.411dupC(C137fs)双杂合突变，并均为新发突变。最终诊断为LGMD2A。结论临床中对于早发关节挛缩伴强直脊柱综合征的患者，需考虑LGMD2A可能，肌肉MRI可为LGMD2A的诊断和鉴别诊断提供重要线索。
목적：보도1례이관절련축반강직척주종합정위주요표현적지대형기영양불량2A(LGMD2A)병례，제고대이관절련축급강직척주종합정위주요표형적기육질병적인식。방법수집1례이관절련축반강직척주종합정위표정최종학진위LGMD2A환자적림상자료、기육활검(병리염색、Western blot)、기인검측화기육영상학등자료，결합문헌복습진행분석。결과환자제조기출현적전신관절련축반강직척주외，합병유사지근단기육위축、무력，명현익상견。가족사제시상염색체은성혹X련쇄은성유전가능；기육MRI시대퇴후군、내측군，소퇴후군현저수루；기육병리검사시기영양불량표현；Western blot검측시calpain-3조대완전결실，CAPN3기인검측시환자휴대c.534A>G(I178M)급c.411dupC(C137fs)쌍잡합돌변，병균위신발돌변。최종진단위LGMD2A。결론림상중대우조발관절련축반강직척주종합정적환자，수고필LGMD2A가능，기육MRI가위LGMD2A적진단화감별진단제공중요선색。
Aim To report a case of limb-girdle muscular dystrophy 2A (LGMD2A) with prominent joint contractures and rigid spine, and review muscle disorders associated with joint contractures and rigid spine syndrome. Methods The clinical manifestation and muscle magnetic resonance imaging (MRI) of a patient with prominent joint contractures and rigid spine were presented. Muscle pathology was achieved by muscle biopsy after signing informed consent. Western blot and gene screening results conifrmed the diagnosis of LGMD2A. Results The patient had bilateral proximal muscle weakness and atrophy, which was accompanied by bilateral scapular winging. Family history indicated that it was autosomal or X-linked recessive inherited. Muscle MRI showed selective involvement of posterior and medial groups of thigh muscles, as well as posterior group of calf;Western blot demonstrated that calpain-3 was absent. Analysis of CAPN3 gene revealed two compound heterogeneous missense mutations [c.534A>G(I178M)] and [c.411dupC(C137fs)], neither of them have been reported before. For these reasons, she was diagnosed with LGMD2A. Conclusion LGMD2A should be taken into consideration when it comes to the diagnosis of patients with prominent joint contractures and rigid spine, and muscle MRI was crucial in making diagnosis.