Hereditary neuropathy with liability to pressure palsies

What causes hereditary neuropathy with liability to pressure palsies?

Hereditary neuropathy with liability to pressure palsies is caused by mutations in the PMP22 gene. The condition results when one gene is either missing or altered. While not completely understood, it is believed that mutations in the PMP22 gene affect myelin, the protective substance that covers nerve cells. As a result of these mutations, some of the protective myelin which covers the nerves becomes unstable, leading to the increased sensitivity to pressure on the nerves.

Last updated on 05-01-20

How is hereditary neuropathy with liability to pressure palsies inherited?

Hereditary neuropathy with liability to pressure palsies (HNPP) is inherited in an autosomal dominant manner. This means that having a deletion or change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the disorder. There is nothing that either parent can do, before or during a pregnancy, to cause a child to have HNPP.

In some cases, a person with HNPP inherits the deletion or mutation from a parent with HNPP. In other cases, HNPP occurs for the first time in a person with no family history of the disorder. When a person with HNPP has children, each child has a 50% (1 in 2) chance to have HNPP.

Last updated on 05-01-20

What treatments are available for hereditary neuropathy with liability to pressure palsies?

There is no specific treatment for hereditary neuropathy with liability to pressure palsies (HNPP). Management is based on each person's symptoms and severity. Some people use braces, such as a wrist splint, or ankle-foot orthosis (for foot drop). Protective pads worn at the elbows or knees may prevent pressure and trauma to local nerves. In general, people with HNPP should try to avoid positions and activities that cause pressure on the nerves, such as prolonged sitting (particularly with the legs crossed), leaning on the elbows, occupations requiring repetitive movements of the wrist, and tying shoes too tightly. For mild pain, over- the-counter pain medicines may be used. For more severe pain, prescription drugs used for peripheral neuropathy may be used.

Last updated on 05-01-20

Name: Hereditary Neuropathy Foundation Inc. 401 Park Avenue, 10th Floor
New York, NY, 10016, United States
Phone: +1-212-722-8396 Toll Free: 1-855-435-7268 Fax : +1-917-591-2758 Email: info@hnf-cure.org Url: https://www.hnf-cure.org/
Name: The Center for Peripheral Neuropathy Department of Neurology University of Chicago
5841 S. Maryland Ave MC 2030
Chicago, IL, 60637, United States
Url: http://peripheralneuropathycenter.uchicago.edu/
Name: Neuropathy Association 60 East 42nd Street Suite 942
New York, NY, 10165, United States
Phone: 212-692-0662 Email: info@neuropathy.org Url: http://www.neuropathy.org/
Name: The Foundation for Peripheral Neuropathy 485 Half Day Road Suite 350
Buffalo Grove, IL, 60089,
Phone: +1-877-883-9942 Fax : +1-847-883-9960 Email: https://www.foundationforpn.org/contact-us/ Url: https://www.foundationforpn.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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