Despite the growing knowledge on the (epi)genetic background of facioscapulohumeral muscular dystrophy (FSHD), the substantial variability in disease severity that exists between FSHD patients is not fully understood. We hypothesized that smoking and alcohol consumption are disease modifiers in FSHD and contribute to the variability in disease severity, because they are both associated with higher levels of oxidative stress in muscle tissue. Oxidative stress is known to influence FSHD muscle tissue. One hundred and ninety-eight genetically confirmed FSHD patients completed a questionnaire from which the number of packyears of smoking and the lifetime cumulative alcohol units consumed were calculated. Disease severity was determined by the FSDH evaluation score. Multiple linear regression analyses showed that both the number of packyears and the amount of alcohol consumption did not influence disease severity (respectively B = 0.025, ΔR²=0.006, p = 0.231; and B = 0.000, ΔR²=0.004, p = 0.406). Although smoking and excessive alcohol consumption are unhealthy habits which should be discouraged, these results show that smoking and alcohol consumption have no clinically meaningful modifying effect on disease severity in FSHD patients. However, prospective data should show whether alcohol consumption and smoking influence disease progression rate.

尽管关于 ( epi ) 的知识越来越多) 面肩肱型肌营养不良症 (FSHD) 的遗传背景，FSHD 患者之间存在的疾病严重程度的显着差异尚不完全清楚。我们假设吸烟和饮酒是 FSHD 的疾病调节因子，并导致疾病严重程度的变化，因为它们都与肌肉组织中更高水平的氧化应激有关。已知氧化应激会影响 FSHD 肌肉组织。198 名经基因证实的 FSHD 患者完成了一份问卷，从中计算了吸烟包年数和终生累积饮酒单位。疾病严重程度由 FSDH 评估分数确定。B  = 0.025，ΔR ² =0.006，p  = 0.231；B = 0.000 ， ΔR ² =0.004，p  = 0.406)。尽管吸烟和过量饮酒是不健康的习惯，应该劝阻，但这些结果表明吸烟和饮酒对 FSHD 患者的疾病严重程度没有临床意义的改变作用。然而，前瞻性数据应显示饮酒和吸烟是否会影响疾病进展速度。