Centre of Reference for neuromuscular diseases and ALS, University Teaching Hospital, CHU La Timone, 264 rue Saint-Pierre, Marseille, France.
Rev Neurol (Paris). 2012 Dec;168(12):910-8. doi: 10.1016/j.neurol.2011.11.008. Epub 2012 Apr 30.
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle involvement. In general, FSHD typically presents before age 20 years. Usually, FSHD muscle involvement starts in the face and then progresses to the shoulder girdle, the humeral muscles and the abdominal muscles, and then the anterolateral compartment of the leg. Disease severity is highly variable and progression is very slow. About 20% of FSHD patients become wheelchair-bound. Lifespan is not shortened. The diagnosis of FSHD is based on a genetic test by which a deletion of 3.3kb DNA repeats (named D4Z4 and mapping to the subtelomeric region of chromosome 4q35) is identified. The progressive pattern of FSHD requires that the severity of symptoms as well as their physical, social and psychological impact be evaluated on a regular basis. A yearly assessment is recommended. Multidisciplinary management of FSHD--consisting of a combination of genetic counselling, functional assessment, an assessment by a physical therapist, prescription of symptomatic therapies and prevention of known complications of this disease--is required. Prescription of physical therapy sessions and orthopedic appliances are to be adapted to the patient's deficiencies and contractures.
面肩肱型肌营养不良症（FSHD）是一种神经肌肉疾病，具有常染色体显性遗传方式、面部受累以及肌肉受累的选择性和不对称性特征。一般而言，FSHD 通常在 20 岁之前发病。通常，FSHD 肌肉受累首先从面部开始，然后进展到肩部、肱部和腹部肌肉，然后是腿部前外侧间隔。疾病严重程度差异很大，进展非常缓慢。大约 20%的 FSHD 患者需要坐轮椅。寿命不会缩短。FSHD 的诊断基于基因检测，该检测可识别 3.3kb DNA 重复缺失（命名为 D4Z4，定位于 4q35 端粒区域）。FSHD 的进行性模式需要定期评估症状的严重程度及其对身体、社会和心理的影响。建议每年进行评估。FSHD 的多学科管理包括遗传咨询、功能评估、物理治疗师评估、对症治疗处方和预防该疾病的已知并发症。物理治疗和矫形器具的处方应根据患者的缺陷和挛缩情况进行调整。
