Frequency
Hereditary neuropathy with liability to pressure palsies is estimated to occur in 2 to 5 per 100,000 individuals.
Causes
Hereditary neuropathy with liability to pressure palsies is most commonly caused by the deletion of one copy of the PMP22 gene. This loss reduces the amount of PMP22 protein produced. Other PMP22 gene mutations that lead to a reduction of PMP22 protein can also cause the condition.
The PMP22 protein is a component of myelin, a protective substance that covers nerves and promotes the efficient transmission of nerve impulses. Studies suggest that the PMP22 protein is particularly important in protecting nerves from physical pressure, helping them restore their structure after compression. Compression can interrupt nerve signaling, leading to the sensation commonly referred to as a limb "falling asleep." The ability of nerves to recover from normal, day-to-day pressure, for example when sitting for long periods, keeps the limbs from constantly losing sensation.
The consequences of PMP22 gene mutations are not clearly understood. A shortage of PMP22 protein appears to make nerves less able to recover from compression, which impairs the transmission of nerve impulses, causing the signs and symptoms of hereditary neuropathy with liability to pressure palsies.
Inheritance
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Other Names for This Condition
- Compression neuropathy
- Entrapment neuropathy
- Familial pressure sensitive neuropathy
- Hereditary motor and sensory neuropathy
- Hereditary pressure sensitive neuropathy
- HNPP
- Inherited tendency to pressure palsies
- Tomaculous neuropathy
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Clinical Trials
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
- Bai Y, Zhang X, Katona I, Saporta MA, Shy ME, O'Malley HA, Isom LL, Suter U, Li J. Conduction block in PMP22 deficiency. J Neurosci. 2010 Jan 13;30(2):600-8. doi: 10.1523/JNEUROSCI.4264-09.2010. Citation on PubMed or Free article on PubMed Central
- Chance PF. Genetic evaluation of inherited motor/sensory neuropathy. Suppl Clin Neurophysiol. 2004;57:228-42. doi: 10.1016/s1567-424x(09)70360-5. Citation on PubMed
- Chance PF. Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. Neuromolecular Med. 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159. Citation on PubMed
- Chrestian N. Hereditary Neuropathy with Liability to Pressure Palsies. 1998 Sep 28 [updated 2020 Aug 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1392/ Citation on PubMed
- Guo J, Wang L, Zhang Y, Wu J, Arpag S, Hu B, Imhof BA, Tian X, Carter BD, Suter U, Li J. Abnormal junctions and permeability of myelin in PMP22-deficient nerves. Ann Neurol. 2014 Feb;75(2):255-65. doi: 10.1002/ana.24086. Epub 2014 Feb 20. Citation on PubMed or Free article on PubMed Central
- Li J, Krajewski K, Lewis RA, Shy ME. Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve. 2004 Feb;29(2):205-10. doi: 10.1002/mus.10521. Citation on PubMed
- Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, Lipowska M, Kabzinska D, Kochanski A, Kostera-Pruszczyk A. Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. Muscle Nerve. 2014 Dec;50(6):914-8. doi: 10.1002/mus.24250. Epub 2014 Oct 30. Citation on PubMed
- Rosso G, Liashkovich I, Gess B, Young P, Kun A, Shahin V. Unravelling crucial biomechanical resilience of myelinated peripheral nerve fibres provided by the Schwann cell basal lamina and PMP22. Sci Rep. 2014 Dec 2;4:7286. doi: 10.1038/srep07286. Citation on PubMed or Free article on PubMed Central
- van de Wetering RA, Gabreels-Festen AA, Timmerman V, Padberg GM, Gabreels FJ, Mariman EC. Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene. Neuromuscul Disord. 2002 Oct;12(7-8):651-5. doi: 10.1016/s0960-8966(02)00025-1. Citation on PubMed
- Yilmaz U, Bird TT, Carter GT, Wang LH, Weiss MD. Pain in hereditary neuropathy with liability to pressure palsy: an association with fibromyalgia syndrome? Muscle Nerve. 2015 Mar;51(3):385-90. doi: 10.1002/mus.24331. Citation on PubMed
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