Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Hereditary liability to pressure palsies(HNPP)

MedGen UID:
98291
Concept ID:
C0393814
Disease or Syndrome
Synonyms: compression neuropathy; entrapment neuropathy; familial pressure sensitive neuropathy; hereditary motor and sensory neuropathy; Hereditary Neuropathy with Liability to Pressure Palsies; Hereditary neuropathy with liability to pressure palsy; hereditary pressure sensitive neuropathy; HNPP; inherited tendency to pressure palsies; Polyneuropathy, familial recurrent; Tomaculous neuropathy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
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).
SNOMED CT: Hereditary liability to pressure palsies (230558006); Tomaculous neuropathy (230558006)
 
Gene: PMP22
Cytogenetic location: 17p12
OMIM: 162500

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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
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 as well as sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure. Hereditary neuropathy with liability to pressure palsies 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. This disorder is also associated with pain in the limbs, especially the hands. A pressure palsy episode results from problems in a single nerve, but any peripheral nerve can be affected. Episodes often recur, but not always at the same site. The most common problem sites involve nerves in wrists, elbows, and knees. Fingers, shoulders, hands, feet, and the scalp can also be affected. Many people with this disorder experience carpal tunnel syndrome 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 in the leg can make walking, climbing stairs, or driving difficult or impossible. 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. Hereditary neuropathy with liability to pressure palsies does not affect life expectancy.  http://ghr.nlm.nih.gov/condition/hereditary-neuropathy-with-liability-to-pressure-palsies

Clinical features

Decreased nerve conduction velocity
MedGen UID:
500893
Concept ID:
CN000716
Finding
A reduction in the speed at which electrical signals propagate along the axon of a `neuron` (FMA:54527).
Reduced tendon reflexes
MedGen UID:
427865
Concept ID:
CN001205
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Paresthesia
MedGen UID:
505532
Concept ID:
CN003069
Finding
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Decreased motor nerve conduction velocity
MedGen UID:
500951
Concept ID:
CN003094
Finding
A type of decreased nerve conduction velocity that affects the `motor neuron` (FMA:83617).
Pes cavus
MedGen UID:
425071
Concept ID:
CN001601
Finding
The presence of an unusually high `plantar arch` (FMA:43942). Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Abnormality of the voice
MedGen UID:
425062
Concept ID:
CN001464
Finding
Any abnormality of the voice.
Vocal cord paralysis
MedGen UID:
504870
Concept ID:
CN001461
Finding
A loss of the ability to move the `vocal folds` (FMA:55457).
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A reduction in the strength of one or more muscles.

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...