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Hereditary Neuropathy with Liability to Pressure Palsies.

Authors

Bird TD.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
1998 Sep 28 [updated 2014 Sep 25].

Excerpt

CLINICAL CHARACTERISTICS:

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.

DIAGNOSIS/TESTING:

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 pathogenic variant in PMP22.

MANAGEMENT:

Treatment of manifestations: A wrist splint may alleviate carpal tunnel syndrome; ankle-foot orthoses (AFOs) may alleviate foot drop. Prevention of primary manifestations: Protective pads at elbows or knees may prevent pressure and trauma to local nerves. Agents/circumstances to avoid: Prolonged sitting with legs crossed; prolonged leaning on elbows; occupations requiring repetitive movements of the wrist; rapid weight loss; vincristine. Other: Surgical decompression of nerves is not beneficial and may cause harm.

GENETIC COUNSELING:

HNPP is inherited in an autosomal dominant manner. Each child of an affected individual is at a 50% risk of inheriting the PMP22 pathogenic variant. Prenatal testing for pregnancies at increased risk is possible if the pathogenic variant has been identified in the family; however, requests for prenatal testing for typically adult-onset conditions such as HNPP are not common.

Copyright © 1993-2016, University of Washington, Seattle. All rights reserved.

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