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Hereditary sensory and autonomic neuropathy type 1(HSAN1)

MedGen UID:
5645
Concept ID:
C0020071
Disease or Syndrome
Synonyms: Hereditary sensory neuropathy type 1; Hereditary Sensory Neuropathy Type I; HSAN 1; HSAN1; HSN Type I; Neuropathy hereditary sensory radicular, autosomal dominant
SNOMED CT: Hereditary sensory and autonomic neuropathy type I (397734008); Hereditary sensory and autonomic neuropathy, type I (397734008); Dominant hereditary sensory neuropathy, type I (397734008); Acrodystrophic neuropathy (397734008); Autosomal dominant sensory neuropathy (230553002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SPTLC1 (9q22.31)
 
Monarch Initiative: MONDO:0018213
OMIM®: 162400
Orphanet: ORPHA36386

Disease characteristics

Excerpted from the GeneReview: SPTLC1-Related Hereditary Sensory Neuropathy
SPTLC1-related hereditary sensory neuropathy (HSN) is an axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena including dysesthesia and characteristic "lightning" or "shooting" pains. Loss of sensation can lead to painless injuries, which, if unrecognized, result in slow wound healing and subsequent osteomyelitis requiring distal amputations. Motor involvement is present in all advanced cases and can be severe. After age 20 years, the distal wasting and weakness may involve proximal muscles, possibly leading to wheelchair dependency by the seventh or eighth decade. Sensorineural hearing loss is variable. [from GeneReviews]
Authors:
Garth A Nicholson   view full author information

Additional description

From MedlinePlus Genetics
Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older. Weakness in the ankle muscles can make walking difficult. As the condition progresses, some people with hereditary sensory neuropathy type IA require wheelchair assistance.

Individuals with hereditary sensory neuropathy type IA typically get open sores (ulcers) on their feet or hands or infections of the soft tissue of the fingertips (whitlows) that are slow to heal. Because affected individuals cannot feel the pain of these sores, they may not seek immediate treatment. Without treatment, the ulcers can become infected and may require amputation of the surrounding area or limb.

Some people with hereditary sensory neuropathy type IA develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss typically develops in middle to late adulthood.

The signs and symptoms of hereditary sensory neuropathy type IA can begin anytime between adolescence and late adulthood. While the features of this condition tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated.  https://medlineplus.gov/genetics/condition/hereditary-sensory-neuropathy-type-ia

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Hereditary sensory and autonomic neuropathy type 1 in Orphanet.

Professional guidelines

PubMed

Scherer SS
J Clin Invest 2011 Dec;121(12):4624-7. doi: 10.1172/JCI60511. PMID: 22045569Free PMC Article

Recent clinical studies

Etiology

Mohassel P, Abdullah M, Eichler FS, Dunn TM
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Muscle Nerve 2015 Apr;51(4):489-95. Epub 2015 Feb 11 doi: 10.1002/mus.24336. PMID: 25042817Free PMC Article
Lowther J, Naismith JH, Dunn TM, Campopiano DJ
Biochem Soc Trans 2012 Jun 1;40(3):547-54. doi: 10.1042/BST20110769. PMID: 22616865

Diagnosis

Rochat J, Blavier A, Ruet S, Vasseur S, Puma A, Desnous B, Chan V, Delmont E, Attarian S, Juntas Morales R, Quadrio I, Vidoni L, Bonello-Palot N, Cheillan D
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Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM
Brain 2006 Feb;129(Pt 2):411-25. Epub 2005 Dec 19 doi: 10.1093/brain/awh712. PMID: 16364956
Geraldes R, de Carvalho M, Santos-Bento M, Nicholson G
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Mitchell GW, Williams GS, Bosch EP, Hart MN
J Neurol Sci 1991 Apr;102(2):170-6. doi: 10.1016/0022-510x(91)90065-f. PMID: 1649260

Therapy

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Prognosis

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Clinical prediction guides

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Fridman V, Suriyanarayanan S, Novak P, David W, Macklin EA, McKenna-Yasek D, Walsh K, Aziz-Bose R, Oaklander AL, Brown R, Hornemann T, Eichler F
Neurology 2019 Jan 22;92(4):e359-e370. Epub 2019 Jan 9 doi: 10.1212/WNL.0000000000006811. PMID: 30626650Free PMC Article
Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH Jr, Eichler FS
Muscle Nerve 2015 Apr;51(4):489-95. Epub 2015 Feb 11 doi: 10.1002/mus.24336. PMID: 25042817Free PMC Article
Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, Brown RH, Hornemann T, Eichler FS
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