Scully Michele A, Eichinger Katy J, Donlin-Smith Colleen M, Tawil Rabi, Statland Jeffery M
Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, New York, 14642.
Muscle Nerve. 2014 Nov;50(5):739-43. doi: 10.1002/mus.24218. Epub 2014 Sep 29.
Few studies have evaluated the frequency or predisposing factors for respiratory involvement in facioscapulohumeral muscular dystrophy type 1 (FSHD1) and type 2 (FSHD2).
We performed a prospective cross-sectional observational study of 61 genetically confirmed FSHD participants (53 FSHD1 and 8 FSHD2). Participants underwent bedside pulmonary function testing in sitting and supine positions, a standard clinical history and physical assessment, and manual muscle testing.
Restrictive respiratory involvement was suggested in 9.8% (95% confidence interval 2.4-17.3): 7.5% FSHD1 and 25.0% FSHD2 (P = 0.17). Participants with testing suggestive of restrictive lung involvement (n = 6) were more severely affected (P = 0.005), had weaker hip flexion (P = 0.0007), and were more likely to use a wheelchair (P = 0.01).
Restrictive respiratory involvement should be considered in all moderate to severely affected FSHD patients with proximal lower extremity weakness. The higher frequency of restrictive lung disease in FSHD2 seen here requires confirmation in a larger cohort of FSHD2 patients.
很少有研究评估1型面肩肱型肌营养不良症（FSHD1）和2型面肩肱型肌营养不良症（FSHD2）患者呼吸系统受累的频率或诱发因素。
我们对61名基因确诊的FSHD患者（53例FSHD1和8例FSHD2）进行了一项前瞻性横断面观察研究。参与者接受了坐位和仰卧位的床边肺功能测试、标准的临床病史和体格检查以及徒手肌力测试。
9.8%的患者提示存在限制性呼吸受累（95%置信区间2.4 - 17.3）：FSHD1为7.5%，FSHD2为25.0%（P = 0.17）。肺功能测试提示存在限制性肺受累的参与者（n = 6）病情更严重（P = 0.005），髋关节屈曲力量更弱（P = 0.0007），且更有可能使用轮椅（P = 0.01）。
对于所有有近端下肢无力的中重度FSHD患者，均应考虑存在限制性呼吸受累。此处观察到的FSHD2患者中限制性肺病的较高发生率需要在更大规模的FSHD2患者队列中得到证实。
