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Autosomal recessive hereditary sensory and autonomic neuropathy

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

Professional guidelines

PubMed

Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients.
Yannai S, Zonszain J, Donyo M, Ast G
PLoS One 2019;14(3):e0211602. Epub 2019 Mar 19 doi: 10.1371/journal.pone.0211602. PMID: 30889183Free PMC Article
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

Recent clinical studies

Etiology

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
Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep.
Palma JA, Gileles-Hillel A, Norcliffe-Kaufmann L, Kaufmann H
Auton Neurosci 2019 May;218:10-15. Epub 2019 Feb 15 doi: 10.1016/j.autneu.2019.02.003. PMID: 30890343Free PMC Article
Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature.
Ashwin DP, Chandan GD, Jasleen HK, Rajkumar GC, Rudresh KB, Prashanth R
Oral Maxillofac Surg 2015 Jun;19(2):117-23. Epub 2015 Mar 6 doi: 10.1007/s10006-015-0486-5. PMID: 25744033
Hereditary sensory and autonomic neuropathies: types II, III, and IV.
Axelrod FB, Gold-von Simson G
Orphanet J Rare Dis 2007 Oct 3;2:39. doi: 10.1186/1750-1172-2-39. PMID: 17915006Free PMC Article
Hereditary sensory neuropathies.
Auer-Grumbach M
Drugs Today (Barc) 2004 May;40(5):385-94. doi: 10.1358/dot.2004.40.5.850487. PMID: 15319794

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
Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature.
Ashwin DP, Chandan GD, Jasleen HK, Rajkumar GC, Rudresh KB, Prashanth R
Oral Maxillofac Surg 2015 Jun;19(2):117-23. Epub 2015 Mar 6 doi: 10.1007/s10006-015-0486-5. PMID: 25744033
Early onset (childhood) monogenic neuropathies.
Landrieu P, Baets J
Handb Clin Neurol 2013;115:863-91. doi: 10.1016/B978-0-444-52902-2.00049-7. PMID: 23931819
Hereditary sensory and autonomic neuropathies: types II, III, and IV.
Axelrod FB, Gold-von Simson G
Orphanet J Rare Dis 2007 Oct 3;2:39. doi: 10.1186/1750-1172-2-39. PMID: 17915006Free PMC Article
Hereditary sensory neuropathies.
Auer-Grumbach M
Drugs Today (Barc) 2004 May;40(5):385-94. doi: 10.1358/dot.2004.40.5.850487. PMID: 15319794

Therapy

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
Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia.
Zlotnik A, Natanel D, Kutz R, Boyko M, Brotfain E, Gruenbaum BF, Gruenbaum SE, Bodner L
Anesth Analg 2015 Nov;121(5):1316-20. doi: 10.1213/ANE.0000000000000912. PMID: 26484462Free PMC Article
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
Impact of the coronavirus pandemic on families of patients with congenital insensitivity to pain with anhidrosis.
Kubota M, Haga N
Pediatr Int 2023 Jan;65(1):e15415. doi: 10.1111/ped.15415. PMID: 36371639Free 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
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151
Hereditary sensory and autonomic neuropathies: types II, III, and IV.
Axelrod FB, Gold-von Simson G
Orphanet J Rare Dis 2007 Oct 3;2:39. doi: 10.1186/1750-1172-2-39. PMID: 17915006Free PMC Article

Clinical prediction guides

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
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article
Impact of the coronavirus pandemic on families of patients with congenital insensitivity to pain with anhidrosis.
Kubota M, Haga N
Pediatr Int 2023 Jan;65(1):e15415. doi: 10.1111/ped.15415. PMID: 36371639Free PMC Article
Population Study of Hand and Wrist Manifestations of Congenital Insensitivity to Pain.
Spiteri M, Mifsud M, Azzopardi T, Giele H
Hand (N Y) 2022 Jan;17(1):155-161. Epub 2020 Mar 6 doi: 10.1177/1558944720906556. PMID: 32141314Free PMC Article
Recessively transmitted predominantly motor neuropathies.
Parman Y, Battaloğlu E
Handb Clin Neurol 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. PMID: 23931818

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