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Carpal tunnel syndrome(CTS1)

MedGen UID:
2856
Concept ID:
C0007286
Disease or Syndrome
Synonyms: AMYOTROPHY, THENAR, OF CARPAL ORIGIN; CTS1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Distal median nerve compression (57406009); Distal median nerve entrapment (57406009); Median nerve entrapment (246611002); Carpal tunnel (57406009); Carpal canal (57406009); CTS - Carpal tunnel syndrome (57406009); Carpal tunnel syndrome (57406009)
 
Gene (location): TTR (18q12.1)
OMIM®: 115430

Definition

Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45) [from MeSH]

Additional description

From GHR
Carpal tunnel syndrome is a disorder caused by disturbances in nerve function (neuropathy), leading to pain and numbness or tingling (paresthesia) primarily in the wrist and hand. While carpal tunnel syndrome can occur at any age, it most often affects people between the ages of 40 and 60. In more than half of cases, both hands are affected; however, the severity may vary between hands. When only one hand is affected, it is most often the hand used for writing (the dominant hand).In carpal tunnel syndrome, the pain or paresthesia is usually felt in the wrist, the palm, and the first four fingers of the hand. These signs and symptoms often develop during sleep and are noticeable upon waking. Affected individuals typically shake their hand to get rid of the pain and numbness, a characteristic move known as the flick sign. As the condition advances, the signs and symptoms begin to occur during the day as well. Affected individuals may have difficulty performing manual tasks such as turning doorknobs, fastening buttons, or opening jars. The symptoms of carpal tunnel syndrome may be triggered by certain activities that flex or extend the wrist, such as driving, typing, or holding a telephone.Over time, people with carpal tunnel syndrome can have muscle and nerve wasting (atrophy) in the affected hand and a reduced ability to detect sensations, which can be mistaken for an improvement of symptoms.  https://ghr.nlm.nih.gov/condition/carpal-tunnel-syndrome

Clinical features

Peripheral neuropathy
MedGen UID:
141046
Concept ID:
C0442874
Disease or Syndrome
A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.
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.
Vitamin B6 deficiency
MedGen UID:
215231
Concept ID:
C0936215
Disease or Syndrome
A nutritional condition produced by a deficiency of VITAMIN B 6 in the diet, characterized by dermatitis, glossitis, cheilosis, and stomatitis. Marked deficiency causes irritability, weakness, depression, dizziness, peripheral neuropathy, and seizures. In infants and children typical manifestations are diarrhea, anemia, and seizures. Deficiency can be caused by certain medications, such as isoniazid.
Digital flexor tenosynovitis
MedGen UID:
57634
Concept ID:
C0158328
Disease or Syndrome
A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCarpal tunnel syndrome

Recent clinical studies

Etiology

Cingoz M, Kandemirli SG, Alis DC, Samanci C, Kandemirli GC, Adatepe NU
Eur J Radiol 2018 Apr;101:59-64. Epub 2018 Feb 9 doi: 10.1016/j.ejrad.2018.02.005. PMID: 29571802
Yano K, Kawabata A, Ikeda M, Suzuki K, Kaneshiro Y, Egi T
Plast Reconstr Surg 2018 Apr;141(4):941-948. doi: 10.1097/PRS.0000000000004228. PMID: 29465486
Raeissadat SA, Karimzadeh A, Hashemi M, Bagherzadeh L
BMC Musculoskelet Disord 2018 Feb 13;19(1):49. doi: 10.1186/s12891-018-1963-4. PMID: 29433485Free PMC Article
Bacle G, Marteau E, Corcia P, Garaud P, Laulan J
J Hand Surg Asian Pac Vol 2018 Mar;23(1):41-46. doi: 10.1142/S2424835518500054. PMID: 29409410
Clarke C, Christensen C, Curran MWT, Chan KM
Muscle Nerve 2017 Oct;56(4):814-816. Epub 2017 Mar 21 doi: 10.1002/mus.25592. PMID: 28128860

Diagnosis

Cingoz M, Kandemirli SG, Alis DC, Samanci C, Kandemirli GC, Adatepe NU
Eur J Radiol 2018 Apr;101:59-64. Epub 2018 Feb 9 doi: 10.1016/j.ejrad.2018.02.005. PMID: 29571802
Yano K, Kawabata A, Ikeda M, Suzuki K, Kaneshiro Y, Egi T
Plast Reconstr Surg 2018 Apr;141(4):941-948. doi: 10.1097/PRS.0000000000004228. PMID: 29465486
Raeissadat SA, Karimzadeh A, Hashemi M, Bagherzadeh L
BMC Musculoskelet Disord 2018 Feb 13;19(1):49. doi: 10.1186/s12891-018-1963-4. PMID: 29433485Free PMC Article
Clarke C, Christensen C, Curran MWT, Chan KM
Muscle Nerve 2017 Oct;56(4):814-816. Epub 2017 Mar 21 doi: 10.1002/mus.25592. PMID: 28128860
Hsiao CW, Shih JT, Hung ST
Orthop Traumatol Surg Res 2017 Feb;103(1):101-103. Epub 2016 Nov 25 doi: 10.1016/j.otsr.2016.10.009. PMID: 27894853

Therapy

Raeissadat SA, Karimzadeh A, Hashemi M, Bagherzadeh L
BMC Musculoskelet Disord 2018 Feb 13;19(1):49. doi: 10.1186/s12891-018-1963-4. PMID: 29433485Free PMC Article
Okutsu I, Hamanaka I, Yoshida A
J Hand Surg Asian Pac Vol 2018 Mar;23(1):90-95. doi: 10.1142/S2424835518500121. PMID: 29409425
Maeda Y, Kim H, Kettner N, Kim J, Cina S, Malatesta C, Gerber J, McManus C, Ong-Sutherland R, Mezzacappa P, Libby A, Mawla I, Morse LR, Kaptchuk TJ, Audette J, Napadow V
Brain 2017 Apr 1;140(4):914-927. doi: 10.1093/brain/awx015. PMID: 28334999Free PMC Article
J Orthop Sports Phys Ther 2017 Mar;47(3):162. doi: 10.2519/jospt.2017.0503. PMID: 28245744
Clarke C, Christensen C, Curran MWT, Chan KM
Muscle Nerve 2017 Oct;56(4):814-816. Epub 2017 Mar 21 doi: 10.1002/mus.25592. PMID: 28128860

Prognosis

Calandruccio JH, Thompson NB
Orthop Clin North Am 2018 Apr;49(2):223-229. Epub 2018 Feb 1 doi: 10.1016/j.ocl.2017.11.009. PMID: 29499823
Yano K, Kawabata A, Ikeda M, Suzuki K, Kaneshiro Y, Egi T
Plast Reconstr Surg 2018 Apr;141(4):941-948. doi: 10.1097/PRS.0000000000004228. PMID: 29465486
Zhang C, Li M, Jiang J, Zhou Q, Xiang L, Huang Y, Ban W, Peng W
J Ultrasound Med 2017 Sep;36(9):1783-1791. Epub 2017 Apr 24 doi: 10.1002/jum.14213. PMID: 28436592
Maeda Y, Kim H, Kettner N, Kim J, Cina S, Malatesta C, Gerber J, McManus C, Ong-Sutherland R, Mezzacappa P, Libby A, Mawla I, Morse LR, Kaptchuk TJ, Audette J, Napadow V
Brain 2017 Apr 1;140(4):914-927. doi: 10.1093/brain/awx015. PMID: 28334999Free PMC Article
Lee SH, Gong HS, Kim DH, Shin HS, Kim KM, Kim J, Baek GH
J Hand Surg Eur Vol 2016 Jul;41(6):643-7. Epub 2015 Dec 23 doi: 10.1177/1753193415622732. PMID: 26701973

Clinical prediction guides

Chesterton LS, Blagojevic-Bucknall M, Burton C, Dziedzic KS, Davenport G, Jowett SM, Myers HL, Oppong R, Rathod-Mistry T, van der Windt DA, Hay EM, Roddy E
Lancet 2018 Oct 20;392(10156):1423-1433. doi: 10.1016/S0140-6736(18)31572-1. PMID: 30343858Free PMC Article
Bartolomé-Villar A, Pastor-Valero T, Fuentes-Sanz A, Varillas-Delgado D, García-de Lucas F
Rev Esp Cir Ortop Traumatol 2018 Mar - Apr;62(2):100-104. Epub 2017 Nov 26 doi: 10.1016/j.recot.2017.10.009. PMID: 29239809
Meems M, Spek V, Kop WJ, Meems BJ, Visser LH, Pop VJM
Trials 2017 Oct 10;18(1):464. doi: 10.1186/s13063-017-2208-9. PMID: 29017511Free PMC Article
Zhang C, Li M, Jiang J, Zhou Q, Xiang L, Huang Y, Ban W, Peng W
J Ultrasound Med 2017 Sep;36(9):1783-1791. Epub 2017 Apr 24 doi: 10.1002/jum.14213. PMID: 28436592
Maeda Y, Kim H, Kettner N, Kim J, Cina S, Malatesta C, Gerber J, McManus C, Ong-Sutherland R, Mezzacappa P, Libby A, Mawla I, Morse LR, Kaptchuk TJ, Audette J, Napadow V
Brain 2017 Apr 1;140(4):914-927. doi: 10.1093/brain/awx015. PMID: 28334999Free PMC Article

Recent systematic reviews

Calandruccio JH, Thompson NB
Orthop Clin North Am 2018 Apr;49(2):223-229. Epub 2018 Feb 1 doi: 10.1016/j.ocl.2017.11.009. PMID: 29499823
Mooar PA, Doherty WJ, Murray JN, Pezold R, Sevarino KS
J Am Acad Orthop Surg 2018 Mar 15;26(6):e128-e130. doi: 10.5435/JAAOS-D-17-00451. PMID: 29420323
Wolny T
Ortop Traumatol Rehabil 2017 Oct 31;19(5):427-440. PMID: 29154235
Burger M, Kriel R, Damon A, Abel A, Bansda A, Wakens M, Ernstzen D
Physiother Theory Pract 2017 Mar;33(3):184-197. Epub 2017 Mar 8 doi: 10.1080/09593985.2017.1282999. PMID: 28272964
Hu K, Zhang T, Xu W
Brain Behav 2016 Mar;6(3):e00439. Epub 2016 Feb 16 doi: 10.1002/brb3.439. PMID: 27099801Free PMC Article

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