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GTR Home > Tests > Hereditary Neuropathy with Liability to Pressure Palsies (PMP22)

Hereditary Neuropathy with Liability to Pressure Palsies (PMP22)

  • GTR Test IDHelp: GTR000319468.5
  • Last updated: 2024-02-07
  • Test version history

Clinical testHelp for Hereditary liability to pressure palsies
Offered by Molecular Genetics Laboratory

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Clinical summary

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Imported from GeneReviews

Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or multiple nerves. The most common initial manifestation is the acute onset of a non-painful focal sensory and motor neuropathy in a single nerve (mononeuropathy). The first attack usually occurs in the second or third decade but earlier onset is possible. Neuropathic pain is increasingly recognized as a common manifestation. Recovery from acute neuropathy is usually complete; when recovery is not complete, the resulting disability is mild. Some affected individuals also demonstrate a mild-to-moderate peripheral neuropathy.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Hypoesthesia
  • Peripheral neuropathy
  • Vocal cord paralysis
  • Muscle weakness
  • Hand muscle weakness
  • Hand paresthesia
  • Hyporeflexia
  • Froment sign
  • Segmental peripheral demyelination/remyelination
  • Decreased motor nerve conduction velocity
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Conditions tested

Target population

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The diagnosis of HNPP is established in an adult with recurrent focal compression neuropathies who has a family history consistent with autosomal dominant inheritance. PMP22 is the only gene known to be associated with HNPP. A contiguous gene deletion of chromosome 17p11.2 that includes PMP22 is present in approximately 80% of affected individuals; the remaining 20% have a mutation in PMP22.

Citations

Clinical validity

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It is estimated that ~80% of individuals with a clinical diagnosis of HNPP will carry the deletion encompasing PMP22. The remaining 20% are predicted to carry a deleterious point mutation in the PMP22 gene

Citations

Clinical utility

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Establish or confirm diagnosis

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