HNPP: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
HNPP: clinical features. HNPP is caused by PMP22 gene deletion on chromosome 17p. Fully referenced neurology checklist.
Genetics
- HNPP is caused by PMP22 gene deletion on chromosome 17p
- The transmission is autosomal dominant
- The onset is in the 2nd to 3rd decades
Clinical features
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Frequently affected peripheral nerves
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Occasionally affected cranial nerves
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Unusual HNPP presentations
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Acronym
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References
- Horowitz SH, Spollen LE, Yu W. Hereditary neuropathy with liability to pressure palsy: the development with axonal loss during military training. JNNP 2004; 75:1629-1631.
- van Paassen B, van der Kooi A, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orphanet J Rare Dis 2014; 9:38.
- Mouton P, Tardieu S, Gouider R, et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999; 52:1440-1446.
- Cortese A, Piccolo G, Lozza A, Schreiber A, Callegari I, Moglia A, Alfonsi E, Pareyson D. Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP). Neuromuscul Disord 2016; 26:455-458.
- Lorenzoni PJ, Scola RH, Cardoso J, et al. Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies. Arq Neuropsiquiatr 2008; 66:898-900.
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