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Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

Disease definition

A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near‐normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.

ORPHA:538574

Classification level: Disorder
  • Synonym(s):
    • Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: G60.0
  • OMIM: 148360
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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