Abstract：
The clinical epidemiology of inherited myopathies in sub-Saharan Africa (SSA) is unknown but likely underdiagnosed due to problems of scientific research and social issues. We report a case series of patients born in SSA, evacuated to Portugal through an international health protocol and seen at a single neuromuscular disorders centre, between January/2004 and August/2021. We identified 9 patients (5 males), 35.6 ± 19.3 years-old (10-64), from Cape Verde (n = 4), Angola (n = 2), Sao Tome and Principe (n = 2) and Guinea-Bissau (n = 1), with a delay in diagnosis of 19.7 ± 14.3 years. Seven patients (77.8 %) had positive family history. Most patients had significant morbidity, requiring wheelchair (55.6 %), and nocturnal non-invasive ventilation (55.6 %). The diagnosis included Bethlem myopathy (n = 2), Duchenne muscular dystrophy (n = 2), Emery-Dreifuss muscular dystrophy (n = 1), LGMDR1 (n = 2), LGMDR2 (n = 1), and type-1 myotonic dystrophy (n = 1). Genetic testing was remarkable for 3 mutations previously not described. Despite the small sample, the spectrum of hereditary myopathies in our cohort is like western studies. Further studies are needed to better understand the epidemiology of muscle diseases in SSA.
摘要：
撒哈拉以南非洲（SSA）遗传性肌病的临床流行病学尚不清楚，但由于科学研究和社会问题，可能未被诊断。我们报道了一系列出生在SSA的患者，通过国际卫生协议被疏散到葡萄牙，并在一个神经肌肉疾病中心看到，2004年1月至2021年8月。我们确定了9名患者（5名男性），35.6±19.3岁（10-64岁），佛得角（n=4），安哥拉（n=2），圣多美和普林西比(n=2)和几内亚比绍(n=1)，诊断延迟19.7±14.3年。7例患者（77.8%）有阳性家族史。大多数患者有显著的发病率，需要轮椅(55.6%)，夜间无创通气（55.6%）。诊断包括Bethlem肌病（n=2），杜氏肌营养不良症（n=2），Emery-Dreifuss肌营养不良（n=1），LGMDR1（n=2），LGMDR2(n=1)，和1型肌强直性营养不良（n=1）。对于以前没有描述的3个突变，基因检测是显着的。尽管样本很小，我们队列中遗传性肌病的频谱与西方研究相似。需要进一步的研究来更好地了解SSA中肌肉疾病的流行病学。
