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Phenotypes of Charcot-Marie-Tooth Syndrome and Differential Diagnosis Focused in Inflammatory Neuropathies Masahiro Iijima 1 1Department of Neurology, Department of Therapeutics for Intractable Neurological Disorders, Nagoya University Graduate School of Medicine Keyword: シャルコー・マリー・トゥース病 , 遺伝性運動感覚性ニューロパチー , 慢性炎症性脱髄性多発根ニューロパチー , 抗MAG抗体陽性IgM MGUSニューロパチー , 脱髄 , 炎症 , Charcot-Marie-Tooth disease , hereditary motor and sensory neuropathy , chronic inflammatory demyelinating polyradiculoneuropathy , anti-myelin-associated glycoprotein antibody positive immunoglobulin M monoclonal gammopathies of undetermined significance neuropathy , demyelination , inflammation pp.31-42
Published Date 2016/1/1
DOI https://doi.org/10.11477/mf.1416200343
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Abstract

Charcot-Marie-Tooth disease (CMT), the most frequent form of inherited neuropathy, is a genetically heterogeneous syndrome of the peripheral nervous system with a rather homologous clinical phenotype (slowly progressive distal weakness and muscle atrophy, skeletal deformities, and areflexia in each limb). CMT1 is the autosomal-dominant demyelinating form, and CMT1A (mostly PMP22 duplication) is the most frequent subtype, followed by CMTX1, HNPP (hereditary neuropathy with liability to pressure palsies), CMT1B, or CMT2. As CMT is characterized by slowly progressive motor and sensory disturbances in each limb, it could be misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP) occasionally. Some points can distinguish demyelinating CMT from CIDP. CMT1 patients do not show the conduction block that is frequent in CIDP. In addition, ultrasonographic findings are useful because CMT1 suggests diffuse enlargement of peripheral nerves, whereas CIDP is characterized by asymmetrical or focal enlargement of peripheral nerves. Some CMT1 cases show favorable responses to immunomodulating therapeutics such as corticosteroids, IVIg, and plasma exchange. Such CIDP-like CMT1 (especially CMT1B or CMT2A) shows moderate to high levels of cerebrospinal fluid protein and infiltrated inflammatory macrophages.


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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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