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Hereditary liability to pressure palsies(HNPP)

MedGen UID:
98291
Concept ID:
C0393814
Disease or Syndrome
Synonyms: Hereditary Neuropathy with Liability to Pressure Palsies; Hereditary neuropathy with liability to pressure palsy; HNPP; Polyneuropathy, familial recurrent; Tomaculous neuropathy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hereditary liability to pressure palsies (230558006); Tomaculous neuropathy (230558006)
 
Gene (location): PMP22 (17p12)
OMIM®: 162500
Orphanet: ORPHA640

Disease characteristics

Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop. The first attack usually occurs in the second or third decade. Recovery from acute neuropathy is often complete; when recovery is not complete, the resulting disability is usually mild. Some affected individuals also have signs of a mild to moderate peripheral neuropathy. [from GeneReviews]
Authors:
Thomas D Bird   view full author information

Additional description

From GHR
Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles and sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure, such as the pressure that occurs when carrying heavy grocery bags, leaning on an elbow, or sitting without changing position, particularly with crossed legs. These activities would not normally cause sensation problems in people without the disorder.Hereditary neuropathy with liability to pressure palsies is characterized by recurrent episodes of numbness, tingling, and loss of muscle function (palsy) in the region associated with the affected nerve, usually an arm, hand, leg, or foot. 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. This disorder is also associated with pain in the limbs, especially the hands.A pressure palsy episode results from pressure on a single nerve, and any peripheral nerve can be affected. Although episodes often recur, they can affect different nerves. The most common problem sites involve nerves in the wrists, elbows, and knees. The fingers, shoulders, hands, feet, and scalp can also be affected. Many people with this disorder experience carpal tunnel syndrome, which occurs when a nerve in the wrist (the median nerve) is involved. Carpal tunnel syndrome is characterized by numbness, tingling, and weakness in the hand and fingers. An episode in the hand may affect fine motor activities such as writing, opening jars, and fastening buttons. An episode of nerve compression in the knee can lead to a condition called foot drop, which makes walking, climbing stairs, or driving difficult or impossible.The symptoms of hereditary neuropathy with liability to pressure palsies 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. Hereditary neuropathy with liability to pressure palsies does not affect life expectancy.  https://ghr.nlm.nih.gov/condition/hereditary-neuropathy-with-liability-to-pressure-palsies

Clinical features

Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary liability to pressure palsies
Follow this link to review classifications for Hereditary liability to pressure palsies in Orphanet.

Professional guidelines

PubMed

Aretz S, Rautenstrauss B, Timmerman V
Eur J Hum Genet 2010 Sep;18(9) Epub 2010 May 26 doi: 10.1038/ejhg.2010.75. PMID: 20512157Free PMC Article

Recent clinical studies

Etiology

Shahrizaila N, Samulong S, Tey S, Suan LC, Meng LK, Goh KJ, Ahmad-Annuar A
Muscle Nerve 2014 Feb;49(2):198-201. Epub 2013 Oct 4 doi: 10.1002/mus.23892. PMID: 23649551
Jankelowitz SK, Burke D
J Neurol Neurosurg Psychiatry 2013 Jul;84(7):806-12. Epub 2013 Feb 16 doi: 10.1136/jnnp-2012-304576. PMID: 23418209
Ouvrier RA, Nicholson GA
Brain Dev 1995;17 Suppl:31-8. PMID: 8882569

Diagnosis

Shahrizaila N, Samulong S, Tey S, Suan LC, Meng LK, Goh KJ, Ahmad-Annuar A
Muscle Nerve 2014 Feb;49(2):198-201. Epub 2013 Oct 4 doi: 10.1002/mus.23892. PMID: 23649551
Sessa M, Nemni R, Quattrini A, Del Carro U, Wrabetz L, Canal N
J Med Genet 1997 Nov;34(11):889-92. PMID: 9391880Free PMC Article
Harding AE
Baillieres Clin Neurol 1995 Nov;4(3):383-400. PMID: 8599717

Clinical prediction guides

Sessa M, Nemni R, Quattrini A, Del Carro U, Wrabetz L, Canal N
J Med Genet 1997 Nov;34(11):889-92. PMID: 9391880Free PMC Article

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