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Charcot-Marie-Tooth disease type 4

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Description

Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities.

SNOMEDCT_US

  • Mode of Inheritance

    VARIANTS

    2,234

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    Genes

    External Links

    • OMIM
    • Orphanet

      64749

    • HPO
    • Medgen

      C4082197

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