Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Synonyms: Palmoplantar keratoderma-Charcot-Marie-Tooth 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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