Orphanet: Autosomal recessive intermediate Charcot Marie Tooth disease type D
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Disease definition

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.

ORPHA:435998

Classification level: Disorder
  • Synonym(s):
    • RI-CMT type D
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • OMIM: 616039
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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