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首页> 外文期刊>Neuromuscular disorders: NMD >Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy
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Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

机译：4J型Charcot-Marie-Tooth病迅速进展性不对称无力类似于慢性炎症性脱髓鞘性多发性神经病

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摘要

Charcot-Marie-Tooth disease type 4J (CMT4J), a rare form of demyelinating CMT, caused by recessive mutations in the phosphoinositide phosphatase FIG4 gene, is characterised by progressive proximal and distal weakness and evidence of chronic denervation in both proximal and distal muscles. We describe a patient with a previous diagnosis of CMT1 who presented with a two year history of rapidly progressive weakness in a single limb, resembling an acquired inflammatory neuropathy. Nerve conduction studies showed an asymmetrical demyelinating neuropathy with conduction block and temporal dispersion. FIG4 sequencing identified a compound heterozygous I41T/K278YfsX5 genotype. CMT4J secondary to FIG4 mutations should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy, especially if there is a background history of a more slowly progressive neuropathy.
机译：Charcot-Marie-Tooth疾病4J型（CMT4J）是一种罕见的脱髓鞘CMT形式，它由磷酸肌醇磷酸酶FIG4基因的隐性突变引起，其特征是近端和远端进行性无力，并且近端和远端肌肉均出现慢性神经支配。我们描述了一位先前诊断为CMT1的患者，该患者在单肢快速进展性无力的两年史中，类似于获得性炎症性神经病。神经传导研究显示具有传导阻滞和时间分散的不对称性脱髓鞘性神经病。图4测序鉴定了化合物杂合的I41T / K278YfsX5基因型。应将继FIG4突变后的CMT4J添加到可疑的炎症性脱髓鞘性神经病病例中，尤其是存在较缓慢进行性神经病的背景病史的遗传病中。

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