Neuromuscular Reference Center PACARARE, La Timone Hospital University, Marseille.
Filnemus, France.
Curr Opin Neurol. 2024 Oct 1;37(5):523-535. doi: 10.1097/WCO.0000000000001298. Epub 2024 Jul 16.
Late-onset myopathies are defined as muscle diseases that begin after the age of 50 years. Some myopathies present classically in the elderly, whereas others may have a variable age of onset, including late-onset presentation. The purpose of this review is to summarize and comment on the most recent evidence regarding the main diagnosis of late-onset myopathies focusing on genetic causes.
Although late-onset myopathies (LOM) are expected to be predominantly acquired myopathies, some common genetic myopathies, such as facioscapulohumeral muscular dystrophy (FSHD), can present late in life, usually with an atypical presentation. In addition, metabolic myopathies, which are classically early-onset diseases, are also diagnoses to be considered, particularly as they may be treatable. Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) has recently been identified as a cause of subacute LOM with a dramatic response to riboflavin supplementation.
Inclusion body myositis is the most frequent of all LOM. Myotonic dystrophy type 2, FSHD and oculopharyngeal muscular dystrophy are the most frequent causes of genetic LOM. We summarize the major differential diagnoses and the clinical features on clinical examination that are suggestive of a genetic diagnosis to provide a diagnostic approach.
迟发性肌病定义为 50 岁以后发病的肌肉疾病。有些肌病在老年人中表现典型，而另一些肌病的发病年龄则具有可变性，包括迟发性发病。本综述的目的是总结和评论最近关于主要诊断迟发性肌病的证据，重点关注遗传病因。
尽管迟发性肌病（LOM）预期主要为获得性肌病，但一些常见的遗传性肌病，如面肩肱型肌营养不良症（FSHD），也可能在晚年发病，通常表现为不典型的表现。此外，代谢性肌病是一种经典的早发性疾病，也需要考虑诊断，特别是因为它们可能是可治疗的。最近发现，多酰基辅酶 A 脱氢酶缺乏症（MADD）是一种亚急性 LOM 的病因，对核黄素补充有显著反应。
包涵体肌炎是所有 LOM 中最常见的。肌强直性营养不良 2 型、FSHD 和眼咽型肌营养不良症是最常见的遗传性 LOM 病因。我们总结了主要的鉴别诊断和临床检查的特征，这些特征提示遗传诊断，以提供一种诊断方法。
