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首页> 外文期刊>Orphanet journal of rare diseases >Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
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Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

机译：5q连锁性脊髓性肌萎缩症的患病率，发病率和携带者频率–文献综述

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AbstractSpinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1–2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a relatively rare condition, studies of its prevalence and incidence are challenging. Most published studies are outdated and therefore rely on clinical rather than genetic diagnosis. Furthermore they are performed in small cohorts in small geographical regions and only study European populations. In addition, the heterogeneity of the condition can lead to delays and difficulties in diagnosing the condition, especially outside of specialist clinics, and contributes to the challenges in understanding the epidemiology of the disease. The frequency of unaffected, heterozygous carriers of the SMN1 mutations appears to be higher among Caucasian and Asian populations compared to the Black (Sub-Saharan African ancestry) population. However, carrier frequencies cannot directly be translated into incidence and prevalence, as very severe (death in utero) and very mild (symptom free in adults) phenotypes carrying bi-allelic SMN1 mutations exist, and their frequency is unknown.More robust epidemiological data on SMA covering larger populations based on accurate genetic diagnosis or newborn screening would be helpful to support planning of clinical studies, provision of care and therapies and evaluation of outcomes.
机译：摘要与5q染色体（SMA）连锁的脊髓性肌萎缩是一种隐性，进行性神经肌肉疾病，由SMN1基因中的双等位基因突变引起，导致运动神经元变性以及与发病和严重程度有关的可变表现。据估计，每100,000人中约有1-2人患病，每10,000例活产中约有1例发生，其中SMA I型约占所有病例的60％。由于SMA是一种相对罕见的疾病，因此对其发病率和发病率的研究具有挑战性。大多数发表的研究已经过时，因此依赖于临床而非基因诊断。此外，它们在较小的地理区域的小规模队列中进行，并且仅研究欧洲人口。此外，疾病的异质性可能导致疾病诊断的延迟和困难，尤其是在专科门诊以外，并且在理解疾病的流行病学方面也带来了挑战。与黑人（撒哈拉以南非洲血统）人群相比，白种人和亚洲人群中SMN1突变的未受影响杂合子携带者的频率似乎更高。然而，由于存在携带双等位基因SMN1突变的非常严重的（子宫内死亡）和非常轻微的（成人无症状）表型，因此无法将载波频率直接转化为发病率和患病率，尚不清楚它们的频率。基于准确的基因诊断或新生儿筛查，覆盖较大人群的SMA将有助于支持临床研究的计划，提供护理和治疗以及评估结局。

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