Hereditary neuropathy with liability to pressure palsy information
Medical condition
Hereditary neuropathy with liability to pressure palsy
Other names
Tomaculous neuropathy
Nerve with myelin sheath
Specialty
Neurology
Causes
Genetic (autosomal dominant PMP22 deletion)[1]
Diagnostic method
Family history, Electrophysiologic testing[2]
Treatment
Occupational therapist, ankle/wrist supports[3]
Hereditary neuropathy with liability to pressure palsy (HNPP) is a peripheral neuropathy, a condition that affects the nerves.[4] Pressure on the nerves can cause tingling sensations, numbness, pain, weakness, muscle atrophy and even paralysis of the affected area. In normal individuals, these symptoms disappear quickly, but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. Palsies can last from minutes or days to weeks or even months.[4][1]
HNPP is caused by a mutation in the gene PMP22, which makes peripheral myelin protein 22. This protein has a role in the maintenance of the myelin sheath that insulates nerves, resulting in insufficient conductivity in the nerves. HNPP is part of the group of hereditary motor and sensory neuropathy (HMSN) disorders and is linked to Charcot–Marie–Tooth disease (CMT).[5]
^ abGenetics Home Reference (April 2007). "Hereditary neuropathy with liability to pressure palsies". NIH.gov. Retrieved 2020-02-09.
^Cite error: The named reference orph was invoked but never defined (see the help page).
^Cite error: The named reference nhs was invoked but never defined (see the help page).
^ abBird, Thomas D. (1 January 1993). "Hereditary Neuropathy with Liability to Pressure Palsies". GeneReviews. PMID 20301566. Retrieved 6 August 2016.update 2014
^Watila MM, Balarabe SA (2015). "Molecular and clinical features of inherited neuropathies due to PMP22 duplication". Journal of the Neurological Sciences. 355 (1–2): 18–24. doi:10.1016/j.jns.2015.05.037. PMID 26076881. S2CID 40080925.
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