Fearon Conor, Lonergan Roisin, Ferguson Damien, Byrne Susan, Bradley David, Langan Yvonne, Redmond Janice
Neurology, St James's Hospital, Dublin, Ireland
Dublin Neurological Institute, Mater Misericordiae University Hospital, Dublin, Ireland.
Pract Neurol. 2020 Feb;20(1):55-58. doi: 10.1136/practneurol-2019-002368. Epub 2019 Aug 29.
Friedreich's ataxia is classically considered a disease with onset in the first or second decade. However, late-onset (age of onset 25-39 years) and very-late-onset (age of onset >40 years) forms do occur rarely. Misdiagnosis is common, particularly because the later onset forms of Friedreich's ataxia commonly do not show characteristic features of the disorder (areflexia, dysarthria, sensory neuropathy, extensor plantars, amyotrophy, cardiac involvement, diabetes mellitus, scoliosis). Also, there may be atypical features such as spasticity, brisk reflexes and laryngeal dystonia. We present the clinical, imaging and genetic findings of a kindred with very-late-onset Friedreich's ataxia and discuss the pitfalls and risk of misdiagnosis.
弗里德赖希共济失调通常被认为是一种在第一个或第二个十年发病的疾病。然而，迟发性（发病年龄25 - 39岁）和极迟发性（发病年龄>40岁）形式确实很少见。误诊很常见，特别是因为弗里德赖希共济失调的迟发性形式通常不表现出该疾病的特征性表现（无反射、构音障碍、感觉神经病变、跖反射伸性、肌萎缩、心脏受累、糖尿病、脊柱侧凸）。此外，可能存在非典型特征，如痉挛、反射亢进和喉肌张力障碍。我们展示了一个极迟发性弗里德赖希共济失调家系的临床、影像学和遗传学发现，并讨论误诊的陷阱和风险。
