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Charcot-Marie-Tooth disease type 2B

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Description

A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood.

SNOMEDCT_US

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

87

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Genes

External Links

  • OMIM

    600882

  • Orphanet

    99936

  • HPO
  • Medgen

    C1833219

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