Hereditary neuropathy with liability to pressure palsy
Hereditary neuropathy with liability to pressure palsy | |
---|---|
Other names | Tomaculous neuropathy |
Diagnostic method | Family history, Electrophysiologic testing[2] |
Treatment | Occupational therapist, ankle/wrist supports[3] |
Hereditary neuropathy with liability to pressure palsy (HNPP) is a
HNPP is caused by a mutation in the gene
Signs and symptoms
Symptoms and symptom onset vary; some individuals are diagnosed in childhood, others in adulthood, some report minor problems, whilst others experience severe discomfort and disability. In many cases, symptoms are mild enough to go unnoticed. The time period between episodes is known to vary between individuals. HNPP has not been found to alter the lifespan, although in some cases a decline in quality of life is noticed. Some sufferers (10–15%) report various pains growing in severity with progression of the disease.
Causes
HNPP is typically caused by
PMP22 encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin.[11] It is involved in maintaining the myelin sheath that surrounds peripheral nerves to facilitate conductivity.[5]
Diagnosis
Diagnosis of HNPP is established via
Treatment
There is no current treatment, however management of HNPP can be done via:[3][10]
- Physical therapist
- Occupational therapist
- Ankle/foot orthosis
- Wrist splint
- Avoid repetitive movements
Epidemiology
HNPP is a rare disorder. Partly because it is so rare and partly because many people who have it only experience mild symptoms, it is difficult to tell what percentage of people have it. One range of estimates is from one in 50,000 up to about one in 33,333.[1] Another is from one in 119,049 up to one in 6,250.[12] In a study of newborns in Korea who all got a genetic test for the disorder, around one in 1,698 of the newborns had it.[12]
History
Inherited peripheral nervous system disorders were first described by Charcot, Marie and Tooth (1886). De Jong (1947) first described HNPP in a Dutch family. Dyck and Lambert (1968) showed nerve conduction studies, and Chance et al. (1993) detected the chromosome deletion in most of the individuals with the HNPP condition.[2][10][13]
See also
References
- ^ a b c d Genetics Home Reference (April 2007). "Hereditary neuropathy with liability to pressure palsies". NIH.gov. Retrieved 2020-02-09.
- ^ a b c d RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Hereditary neuropathy with liability to pressure palsies". www.orpha.net. Retrieved 18 August 2016.
{{cite web}}
: CS1 maint: numeric names: authors list (link) - ^ a b c d e "Hereditary neuropathy with pressure palsies (HNPP)". NHS. NHS.uk. Retrieved 18 August 2016.
- ^ PMID 20301566. Retrieved 6 August 2016.update 2014
- ^ S2CID 40080925.
- ^ "Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)". Charcot–Marie–Tooth Association. Retrieved 2023-05-03.
- ^ "OMIM Entry - # 162500 - NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP". www.omim.org. Retrieved 18 August 2016.
- ISBN 9783798515864.
- ISBN 9781118618431.
- ^ PMID 24646194.
- ^ "OMIM Entry - * 601097 - PERIPHERAL MYELIN PROTEIN 22; PMP22". omim.org. Retrieved 2016-08-18.
- ^ PMID 29544507.
- ISBN 9784431547648. Retrieved 18 August 2016.
Further reading
- Horowitz, S. H.; Spollen, L. E.; Yu, W. (1 November 2004). "Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training". Journal of Neurology, Neurosurgery & Psychiatry. 75 (11): 1629–1631. PMID 15489403.
- Lorenzoni, Paulo J.; Scola, Rosana H.; Cardoso, Juliana; Kay, Cláudia S.K.; Fugmann, Elmar A.; Marques Jr, Wilson; Silvado, Carlos E.; Werneck, Lineu C. (December 2008). "Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies". Arquivos de Neuro-Psiquiatria. 66 (4): 898–900. PMID 19099137.