Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

What is Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome?

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.

Other condition names

  • Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
  • Infancy
  • Neonatal
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