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Carpal tunnel syndrome 1(CTS1)

MedGen UID:
1830382
Concept ID:
C5779776
Disease or Syndrome
Synonyms: Carpal tunnel syndrome, familial; CTS1
 
Gene (location): TTR (18q12.1)
 
Monarch Initiative: MONDO:0020730
OMIM®: 115430

Definition

Carpal tunnel syndrome-1 (CTS1) is characterized by hand pain and numbness in the distribution of the median nerve, with onset in the sixth decade of life. Amyloid deposits are observed in synovial tissue of the wrist and in the transverse carpal ligament (Murakami et al., 1994). Genetic Heterogeneity of Carpal Tunnel Syndrome CTS2 (619161) is caused by mutation in the COMP gene (600310) on chromosome 19p13. Susceptibility to the development of mononeuropathy of the median (MNMN; 613353) may be conferred by heterozygous mutation in the SH3TC2 gene (608206) on chromosome 5q32. Carpal tunnel syndrome has been described as a feature in amyloid neuropathy (see 176300) and in mucopolysaccharidoses (e.g., 253200) and mucolipidoses (252600). [from OMIM]

Clinical features

From HPO
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Constrictive median neuropathy
MedGen UID:
868610
Concept ID:
C4023009
Anatomical Abnormality
Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.
Digital flexor tenosynovitis
MedGen UID:
57634
Concept ID:
C0158328
Disease or Syndrome
Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs
Reduced circulating vitamin B6 circulating
MedGen UID:
215231
Concept ID:
C0936215
Disease or Syndrome
An abnormally decreased concentration of vitamin B6 in the blood circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Hernández-Secorún M, Montaña-Cortés R, Hidalgo-García C, Rodríguez-Sanz J, Corral-de-Toro J, Monti-Ballano S, Hamam-Alcober S, Tricás-Moreno JM, Lucha-López MO
Int J Environ Res Public Health 2021 Feb 28;18(5) doi: 10.3390/ijerph18052365. PMID: 33671060Free PMC Article
Siddiqi OK, Ruberg FL
Trends Cardiovasc Med 2018 Jan;28(1):10-21. Epub 2017 Jul 13 doi: 10.1016/j.tcm.2017.07.004. PMID: 28739313Free PMC Article
Caliandro P, La Torre G, Padua R, Giannini F, Padua L
Cochrane Database Syst Rev 2016 Nov 15;11(11):CD006839. doi: 10.1002/14651858.CD006839.pub4. PMID: 27845501Free PMC Article

Recent clinical studies

Etiology

Menekseoglu AK, Korkmaz MD, Segmen H
Rev Assoc Med Bras (1992) 2023;69(1):124-130. Epub 2023 Feb 17 doi: 10.1590/1806-9282.20220943. PMID: 36820719Free PMC Article
Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S, Ziza JM
Joint Bone Spine 2016 Jul;83(4):421-6. Epub 2015 Dec 14 doi: 10.1016/j.jbspin.2015.11.001. PMID: 26697993
Lee WP, Schipper BM, Goitz RJ
J Hand Surg Am 2008 Sep;33(7):1052-6. doi: 10.1016/j.jhsa.2008.03.013. PMID: 18762096
Rabindranath KS, Strippoli GF, Roderick P, Wallace SA, MacLeod AM, Daly C
Am J Kidney Dis 2005 Mar;45(3):437-47. doi: 10.1053/j.ajkd.2004.11.008. PMID: 15754266
Belman AL, Coyle PK, Roque C, Cantos E
Pediatr Neurol 1992 Nov-Dec;8(6):428-31. doi: 10.1016/0887-8994(92)90003-h. PMID: 1476570

Diagnosis

Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S, Ziza JM
Joint Bone Spine 2016 Jul;83(4):421-6. Epub 2015 Dec 14 doi: 10.1016/j.jbspin.2015.11.001. PMID: 26697993
Davatchi F, Sandoughi M, Moghimi N, Jamshidi AR, Tehrani Banihashemi A, Zakeri Z, Sadeghi Abdollahi B
Int J Rheum Dis 2016 Nov;19(11):1056-1062. Epub 2015 Dec 1 doi: 10.1111/1756-185X.12809. PMID: 26620687
Poncelet AN, Connolly MK
Muscle Nerve 2003 Sep;28(3):330-5. doi: 10.1002/mus.10439. PMID: 12929193
Belman AL, Coyle PK, Roque C, Cantos E
Pediatr Neurol 1992 Nov-Dec;8(6):428-31. doi: 10.1016/0887-8994(92)90003-h. PMID: 1476570
Fitzcharles MA, Esdaile JM
Arthritis Rheum 1990 Mar;33(3):403-6. doi: 10.1002/art.1780330314. PMID: 2317225

Therapy

Menekseoglu AK, Korkmaz MD, Segmen H
Rev Assoc Med Bras (1992) 2023;69(1):124-130. Epub 2023 Feb 17 doi: 10.1590/1806-9282.20220943. PMID: 36820719Free PMC Article
Klemetti R, Kurinczuk JJ, Redshaw M
Eur J Obstet Gynecol Reprod Biol 2011 Feb;154(2):157-62. Epub 2010 Nov 26 doi: 10.1016/j.ejogrb.2010.10.025. PMID: 21112684
Salaffi F, De Angelis R, Grassi W; MArche Pain Prevalence; INvestigation Group (MAPPING) study
Clin Exp Rheumatol 2005 Nov-Dec;23(6):819-28. PMID: 16396700
Rabindranath KS, Strippoli GF, Roderick P, Wallace SA, MacLeod AM, Daly C
Am J Kidney Dis 2005 Mar;45(3):437-47. doi: 10.1053/j.ajkd.2004.11.008. PMID: 15754266
Belman AL, Coyle PK, Roque C, Cantos E
Pediatr Neurol 1992 Nov-Dec;8(6):428-31. doi: 10.1016/0887-8994(92)90003-h. PMID: 1476570

Prognosis

Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S, Ziza JM
Joint Bone Spine 2016 Jul;83(4):421-6. Epub 2015 Dec 14 doi: 10.1016/j.jbspin.2015.11.001. PMID: 26697993
Davatchi F, Sandoughi M, Moghimi N, Jamshidi AR, Tehrani Banihashemi A, Zakeri Z, Sadeghi Abdollahi B
Int J Rheum Dis 2016 Nov;19(11):1056-1062. Epub 2015 Dec 1 doi: 10.1111/1756-185X.12809. PMID: 26620687
Ertresvg JM, Stovner LJ, Kvavik LE, Johnsen HJ, Zwart JA, Helde G, Bovim G
BMC Med 2007 Jul 17;5:19. doi: 10.1186/1741-7015-5-19. PMID: 17640340Free PMC Article

Clinical prediction guides

Menekseoglu AK, Korkmaz MD, Segmen H
Rev Assoc Med Bras (1992) 2023;69(1):124-130. Epub 2023 Feb 17 doi: 10.1590/1806-9282.20220943. PMID: 36820719Free PMC Article
Belman AL, Coyle PK, Roque C, Cantos E
Pediatr Neurol 1992 Nov-Dec;8(6):428-31. doi: 10.1016/0887-8994(92)90003-h. PMID: 1476570

Recent systematic reviews

Rabindranath KS, Strippoli GF, Roderick P, Wallace SA, MacLeod AM, Daly C
Am J Kidney Dis 2005 Mar;45(3):437-47. doi: 10.1053/j.ajkd.2004.11.008. PMID: 15754266

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