Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.
Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.
复制标题
强直性肌营养不良 1 型肩胛运动障碍：临床特征和遗传研究。
DOI：
10.1007/s00415-019-09494-8
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发表时间：
2019
影响因子：
6
通讯作者：
Bassez,G
中科院分区：
文献类型：
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作者：
Voermans,NC;vanderBilt,RC;IJspeert,J;Hogrel,JY;Jeanpierre,M;Behin,A;Laforet,P;Stojkovic,T;vanEngelen,BG;Padberg,GW;Sacconi,S;Lemmers,RJLF;vanderMaarel,SM;Eymard,B;Bassez,G
目的研究肩胛翼状或其他形式的肩胛运动障碍（肩胛骨的正常位置和运动的改变的条件）在强直性肌营养不良1型（DM 1）中，这通常被认为是远端肌病，我们进行了一项观察性队列研究。大多数是不对称的肩胛翼或其他形式的肩胛运动障碍。我们还探讨了如果肩胛dyskinesis在DM 1具有相同的遗传背景，在面肩肱型肌营养不良症1型（FSHD 1）。ResultsThe队列包括先天性（n= 3），婴儿（n= 6）和成人发病DM 1（n= 24）的患者。肩胛带检查显示中度肩胛带无力（平均MRC 3）和阔肌、冈下肌和大菱形肌萎缩，似乎与FSHD 1相似。肩关节外展和前屈受限（50-70°）。在5例患者中，肩胛骨运动障碍是最初的疾病症状，在其他患者中，它出现在疾病发作后1-24年。29例患者（平均8年）的随访数据显示，肩胛骨运动障碍随时间推移轻度至重度增加。只有3名患者的DM 1与FSHD突变共存。在所有其他患者中，FSHD在遗传上被排除。9例患者的DM 2基因被排除。同时携带DM 1和FSHD 1突变的患者的临床特征与仅携带DM 1的患者相似。结论在一小部分患者中，肩胛骨运动障碍可以被认为是DM 1的一部分。尽管临床重叠，FSHD可以解释肩胛骨运动障碍，只有在一小部分。这项研究有望提高对DM 1患者肩带受累的认识，这将有助于这些患者的治疗。
ObjectiveTo study scapular winging or other forms of scapular dyskinesis (condition of alteration of the normal position and motion of the scapula) in myotonic dystrophy type 1 (DM1), which is generally considered to be a distal myopathy, we performed an observational cohort study.MethodsWe performed a prospective cohort study on the clinical features and progression over time of 33 patients with DM1 and pronounced, mostly asymmetric scapular winging or other forms of scapular dyskinesis. We also explored if scapular dyskinesis in DM1 has the same genetic background as in facioscapulohumeral muscular dystrophy type 1 (FSHD1).ResultsThe cohort included patients with congenital (n= 3), infantile (n= 6) and adult-onset DM1 (n= 24). Scapular girdle examination showed moderate shoulder girdle weakness (mean MRC 3) and atrophy of trapezius, infraspinatus, and rhomboid major, seemingly similar as in FSHD1. Shoulder abduction and forward flexion were limited (50–70°). In five patients, scapular dyskinesis was the initial disease symptom; in the others it appeared 1–24 years after disease onset. Follow-up data were available in 29 patients (mean 8 years) and showed mild to severe increase of scapular dyskinesis over time. In only three patients, DM1 coexisted with a FSHD mutation. In all other patients, FSHD was genetically excluded. DM2 was genetically excluded in nine patients. The clinical features of the patients with both DM1 and FSHD1 mutations were similar to those with DM1 only.ConclusionScapular dyskinesis can be considered to be part of DM1 in a small proportion of patients. In spite of the clinical overlap, FSHD can explain scapular dyskinesis only in a small minority. This study is expected to improve the recognition of shoulder girdle involvement in DM1, which will contribute to the management of these patients.