U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal recessive hereditary sensory and autonomic neuropathy

MedGen UID:
1842234
•Concept ID:
C5680675
•
Disease or Syndrome
Orphanet: ORPHA140477

Professional guidelines

PubMed

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V
Brain 2009 Oct;132(Pt 10):2699-711. Epub 2009 Aug 3 doi: 10.1093/brain/awp198. PMID: 19651702Free PMC Article
Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol 2004;57:228-42. doi: 10.1016/s1567-424x(09)70360-5. PMID: 16106622
The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis.
Rozentsveig V, Katz A, Weksler N, Schwartz A, Schilly M, Klein M, Gurman GM
Paediatr Anaesth 2004 Apr;14(4):344-8. doi: 10.1046/j.1460-9592.2003.01235.x. PMID: 15078381

Recent clinical studies

Etiology

From the Destruction of Two Lumbar Segments to Thoracic-Lumbar-Pelvic Fusion: A Case Caused by Congenital Insensitivity to Pain with Anhidrosis and Literature Review.
Jiao Y, Tian Y, Cai S
Orthop Surg 2023 Jul;15(7):1904-1914. Epub 2023 May 8 doi: 10.1111/os.13746. PMID: 37154095Free PMC Article
Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I
Nat Rev Dis Primers 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. PMID: 35710757
Increased frequency of rhabdomyolysis in familial dysautonomia.
Palma JA, Roda R, Norcliffe-Kaufmann L, Kaufmann H
Muscle Nerve 2015 Nov;52(5):887-90. Epub 2015 Aug 13 doi: 10.1002/mus.24781. PMID: 26202308Free PMC Article
Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.
Timmerman V, Clowes VE, Reid E
Exp Neurol 2013 Aug;246:14-25. Epub 2012 Jan 18 doi: 10.1016/j.expneurol.2012.01.010. PMID: 22285450
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.
Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC
Am J Med Genet A 2008 Jul 1;146A(13):1748-53. doi: 10.1002/ajmg.a.32325. PMID: 18546280

Diagnosis

Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I
Nat Rev Dis Primers 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. PMID: 35710757
Autism spectrum disorder in a boy with congenital insensitivity to pain with anhidrosis: a case report.
Zhang M, Cao X, Li N, Duan G, Zhang X
BMC Pediatr 2022 Mar 11;22(1):126. doi: 10.1186/s12887-022-03196-3. PMID: 35277138Free PMC Article
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
Geng X, Liu Y, Ren X, Guan Y, Wang Y, Mao B, Zhao X, Zhang X
Mol Pain 2018 Jan-Dec;14:1744806918781140. Epub 2018 May 17 doi: 10.1177/1744806918781140. PMID: 29770739Free PMC Article
Increased frequency of rhabdomyolysis in familial dysautonomia.
Palma JA, Roda R, Norcliffe-Kaufmann L, Kaufmann H
Muscle Nerve 2015 Nov;52(5):887-90. Epub 2015 Aug 13 doi: 10.1002/mus.24781. PMID: 26202308Free PMC Article
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.
Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC
Am J Med Genet A 2008 Jul 1;146A(13):1748-53. doi: 10.1002/ajmg.a.32325. PMID: 18546280

Therapy

Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports.
Wang C, Zhang X, Guo S, Sun J, Li N
J Med Case Rep 2017 Aug 25;11(1):247. doi: 10.1186/s13256-017-1406-0. PMID: 28838318Free PMC Article
Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study.
Palma JA, Norcliffe-Kaufmann L, Perez MA, Spalink CL, Kaufmann H
Sleep 2017 Aug 1;40(8) doi: 10.1093/sleep/zsx083. PMID: 28521050Free PMC Article
Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.
Cheishvili D, Maayan C, Holzer N, Tsenter J, Lax E, Petropoulos S, Razin A
J Mol Neurosci 2016 Jul;59(3):382-91. Epub 2016 Apr 30 doi: 10.1007/s12031-016-0760-5. PMID: 27129499
Hereditary sensory autonomic neuropathy Type IV.
Dua T, Sharma J, Singhal T, Arya VB
Indian Pediatr 2005 Mar;42(3):281-4. PMID: 15817982
The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis.
Rozentsveig V, Katz A, Weksler N, Schwartz A, Schilly M, Klein M, Gurman GM
Paediatr Anaesth 2004 Apr;14(4):344-8. doi: 10.1046/j.1460-9592.2003.01235.x. PMID: 15078381

Prognosis

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I
Brain 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. PMID: 37769650Free PMC Article
Increased frequency of rhabdomyolysis in familial dysautonomia.
Palma JA, Roda R, Norcliffe-Kaufmann L, Kaufmann H
Muscle Nerve 2015 Nov;52(5):887-90. Epub 2015 Aug 13 doi: 10.1002/mus.24781. PMID: 26202308Free PMC Article
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.
Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC
Am J Med Genet A 2008 Jul 1;146A(13):1748-53. doi: 10.1002/ajmg.a.32325. PMID: 18546280
Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.
Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, Desnick RJ
Am J Med Genet 1995 Nov 20;59(3):349-55. doi: 10.1002/ajmg.1320590314. PMID: 8599360
Exclusion of familial dysautonomia from more than 60% of the genome.
Blumenfeld A, Axelrod FB, Trofatter JA, Maayan C, Lucente DE, Slaugenhaupt SA, Liebert CB, Ozelius LJ, Haines JL, Breakefield XO
J Med Genet 1993 Jan;30(1):47-52. doi: 10.1136/jmg.30.1.47. PMID: 8093738Free PMC Article

Clinical prediction guides

A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.
Romagnuolo M, Moltrasio C, Cavalli R, Brena M, Tadini G
Pediatr Dermatol 2024 Jan-Feb;41(1):80-83. Epub 2023 Jun 22 doi: 10.1111/pde.15366. PMID: 37345838
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I
Brain 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. PMID: 37769650Free PMC Article
Autism spectrum disorder in a boy with congenital insensitivity to pain with anhidrosis: a case report.
Zhang M, Cao X, Li N, Duan G, Zhang X
BMC Pediatr 2022 Mar 11;22(1):126. doi: 10.1186/s12887-022-03196-3. PMID: 35277138Free PMC Article
A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.
Mustapha M, Chardenoux S, Nieder A, Salem N, Weissenbach J, el-Zir E, Loiselet J, Petit C
Eur J Hum Genet 1998 May-Jun;6(3):245-50. doi: 10.1038/sj.ejhg.5200177. PMID: 9781028
Exclusion of familial dysautonomia from more than 60% of the genome.
Blumenfeld A, Axelrod FB, Trofatter JA, Maayan C, Lucente DE, Slaugenhaupt SA, Liebert CB, Ozelius LJ, Haines JL, Breakefield XO
J Med Genet 1993 Jan;30(1):47-52. doi: 10.1136/jmg.30.1.47. PMID: 8093738Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...