Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults, is an autosomal dominant disorder with a wide phenotypic spectrum ranging from oligosymptomatic forms to a life-threatening, multisystem disease. People with DM1 overall have a reduced life expectancy, mainly due to respiratory or cardiac causes. There is no cure but prompt, appropriate symptom management is essential to limit disease-related complications. We present a case of DM1, unrecognised when the patient presented with recurrent type 2 respiratory failure, and initially misdiagnosed as Guillain-Barré syndrome. This misdiagnosis subsequently led to unnecessary investigation and treatment before further detailed neurological examination and collateral family history gave the diagnosis. This case highlights the importance of considering a chronic neuromuscular disorder in patients presenting with acute respiratory failure and an unusual pattern of weakness.

中文翻译：

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强直性肌营养不良：急性呼吸困难的一个不容忽视的原因


强直性肌营养不良 1 型 (DM1) 是成人中最常见的肌营养不良症，是一种常染色体显性遗传疾病，具有广泛的表型谱，从寡症状形式到危及生命的多系统疾病。总体而言，患有 DM1 的人预期寿命会缩短，这主要是由于呼吸系统或心脏原因造成的。目前尚无治愈方法，但及时、适当的症状管理对于限制与疾病相关的并发症至关重要。我们介绍了一个 DM1 病例，当患者出现复发性 2 型呼吸衰竭时未被识别，最初被误诊为吉兰-巴利综合征。这种误诊随后导致了不必要的检查和治疗，然后才通过进一步详细的神经学检查和附带家族史做出诊断。该病例强调了对于出现急性呼吸衰竭和异常虚弱模式的患者考虑慢性神经肌肉疾病的重要性。