GTR Home > Conditions/Phenotypes > Hereditary liability to pressure palsies

Disease characteristics

Excerpted from the GeneReview: Hereditary Neuropathy with Liability to Pressure Palsies
Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop. The first attack usually occurs in the second or third decade. Recovery from acute neuropathy is often complete; when recovery is not complete, the resulting disability is usually mild. Some affected individuals also have signs of a mild to moderate peripheral neuropathy.

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Associated genes

Clinical features

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  • Muscle weakness
  • Hyporeflexia
  • Respiratory insufficiency
  • Segmental peripheral demyelination/remyelination
  • Decreased nerve conduction velocity
  • Reduced tendon reflexes
  • Vocal cord paralysis
  • Abnormality of the voice
  • Pes cavus
  • Scoliosis
  • Paresthesia
  • Decreased motor nerve conduction velocity
  • Cranial nerve paralysis
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