Hereditary neuropathy with liability to pressure palsy (HNPP) is a disorder that affects peripheral nerves. This condition causes recurrent episodes of numbness, tingling, and/or loss of muscle function (palsy). An episode can last from several minutes to several months, but recovery is usually complete. Repeated incidents, however, can cause permanent muscle weakness or loss of sensation. The most common problem sites involve nerves in wrists, elbows, and knees. Symptoms usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. Symptoms vary in severity; many people never realize they have the disorder, while some people experience prolonged disability. This condition is caused by the loss of one copy of the PMP22 gene or alterations within the
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Decreased motor nerve conduction velocity||0003431|
|30%-79% of people have these symptoms|
Pins and needles feeling
Tingling[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the voice||
|Cranial nerve paralysis||0006824|
|Vocal cord paralysis||
Inability to move vocal cords
|Percent of people who have these symptoms is not available through HPO|
|Segmental peripheral demyelination/remyelination||0003481|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
There is no specific treatment for hereditary neuropathy with liability to pressure palsy. Treatment is based on an individual's symptoms. Some people with this condition use braces, such as a wrist splint or ankle-foot orthosis (AFO). Protective pads worn at the elbows or knees may prevent pressure and trauma to local nerves. Activities to avoid include prolonged sitting with legs crossed, occupations requiring repetitive movements of the wrist, prolonged leaning on elbows, and rapid weight loss. Vincristine, commonly used in the treatment of lymphoma, has been reported to worsen the symptoms of hereditary neuropathy with liability to pressure palsy. Surgical decompression of nerves remains a controversial treament for this condition.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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What treatments are available for hereditary neuropathy with liability to pressure palsy? See answer