Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Radboudumc, PO Box 9101, 6500, HB, Nijmegen, The Netherlands.
J Neurol. 2019 Dec;266(12):2987-2996. doi: 10.1007/s00415-019-09494-8. Epub 2019 Aug 31.
To 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.
We 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).
The 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.
Scapular 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.
研究 1 型肌强直性营养不良（DM1）中的肩胛骨翼状或其他形式的肩胛骨运动障碍（肩胛骨正常位置和运动改变的状况），一般认为其为远端肌病，我们进行了一项观察性队列研究。
我们对 33 例 DM1 患者的临床特征和随时间推移的进展进行了前瞻性队列研究，这些患者的肩胛骨翼状或其他形式的肩胛骨运动障碍明显且多为不对称。我们还探讨了 DM1 中的肩胛骨运动障碍是否与 1 型面肩肱型肌营养不良（FSHD1）具有相同的遗传背景。
该队列包括 3 例先天性、6 例婴儿期和 24 例成人发病的 DM1 患者。肩胛骨带检查显示中度肩带无力（平均 MRC 3）和斜方肌、冈下肌和菱形肌萎缩，似乎与 FSHD1 相似。肩外展和前屈受限（50-70°）。在 5 例患者中，肩胛骨运动障碍是首发疾病症状；在其余患者中，该症状出现在发病后 1-24 年。29 例患者（平均随访 8 年）可提供随访数据，显示随时间推移肩胛骨运动障碍轻度至重度增加。仅 3 例患者同时患有 DM1 和 FSHD 突变。在所有其他患者中，均排除了 FSHD。9 例患者排除了 DM2。同时患有 DM1 和 FSHD1 突变的患者的临床特征与仅患有 DM1 的患者相似。
在一小部分患者中，肩胛骨运动障碍可被视为 DM1 的一部分。尽管存在临床重叠，但 FSHD 仅能解释一小部分肩胛骨运动障碍。本研究有望提高对 DM1 中肩带受累的认识，从而有助于这些患者的管理。
