Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, NSW 2145, Sydney, Australia.
Neuromuscul Disord. 2011 Mar;21(3):194-203. doi: 10.1016/j.nmd.2010.11.015. Epub 2011 Feb 4.
Inherited rippling muscle disease is an autosomal dominant disorder usually associated with caveolin-3 mutations. Rare cases of acquired rippling muscle disease with abnormal caveolin-3 localisation have been reported, without primary caveolin-3 mutations and in association with myasthenia gravis and acetylcholine receptor autoantibodies, or thymoma. We present three new patients with electrically-silent muscle rippling and abnormal caveolin-3 localisation, but without acetylcholine receptor autoantibodies, or clinical or electrophysiological evidence of myasthenia gravis. An autoimmune basis for rippling muscle disease is supported by spontaneous recovery and normalisation of caveolin-3 staining in one patient and alleviation of symptoms in response to plasmapheresis and immunosuppression in another. These patients expand the autoimmune rippling muscle disease phenotype, and suggest that autoantibodies to additional unidentified muscle proteins result in autoimmune rippling muscle disease.
遗传性波纹肌病是一种常染色体显性遗传病，通常与 caveolin-3 突变有关。罕见情况下，波纹肌病可获得性发生，伴有 caveolin-3 定位异常，但无原发性 caveolin-3 突变，并与重症肌无力和乙酰胆碱受体自身抗体或胸腺瘤相关。我们报道了 3 例新的电沉默性肌肉波纹和 caveolin-3 定位异常患者，但无乙酰胆碱受体自身抗体，也无重症肌无力的临床或电生理证据。波纹肌病的自身免疫基础得到了 1 例患者自发性恢复和 caveolin-3 染色正常化以及另 1 例患者对血浆置换和免疫抑制治疗症状缓解的支持。这些患者扩展了自身免疫性波纹肌病表型，并提示针对其他未识别的肌肉蛋白的自身抗体导致了自身免疫性波纹肌病。
