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Pain

MedGen UID:
776584
Concept ID:
C2364139
Finding
 
HPO: HP:0012531

Conditions with this feature

Primary erythromelalgia
MedGen UID:
8688
Concept ID:
C0014805
Disease or Syndrome
SCN9A-related inherited erythromelalgia (SCN9A-related IEM) is characterized by recurrent attacks of bilateral and symmetric intense pain, redness, warmth, and swelling involving the feet and, less frequently, the hands. SCN9A-related IEM is not associated with an organic disease. Manifestations may vary within a family. Onset is usually in childhood or adolescence but has been recognized in infants and adults. At onset, episodes are triggered by warmth; other precipitating factors include: exercise, tight shoes, wearing socks, alcohol, spicy foods, and other vasodilating agents. In advanced disease, symptoms may occur many times a day or become constant. Some individuals have allodynia (pain evoked by a normally innocuous stimulus) and hyperalgesia (increased sensitivity to a painful stimulus). Episodes may be disabling, interfere with sleep, and severely limit normal activities such as walking, participation in sports, wearing socks and shoes, and attending school or going to work.
Charcot-Marie-Tooth disease, type 2A2
MedGen UID:
373098
Concept ID:
C1836485
Disease or Syndrome
Charcot-Marie-Tooth hereditary neuropathy type 2A (CMT2A) is a classic axonal peripheral sensorimotor neuropathy characterized by earlier and more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Most affected individuals develop symptoms in the first or second decade. It has recently been suggested that CMT2A represents more than 90% of the severe dominant CMT2 cases. However, milder late-onset cases and unusual presentations have also been described.

Recent clinical studies

Etiology

Sampson EL, White N, Lord K, Leurent B, Vickerstaff V, Scott S, Jones L
Pain 2015 Apr;156(4):675-83. doi: 10.1097/j.pain.0000000000000095. PMID: 25790457Free PMC Article
Morris MC, Walker L, Bruehl S, Hellman N, Sherman AL, Rao U
Pain 2015 May;156(5):917-22. doi: 10.1097/j.pain.0000000000000129. PMID: 25734994Free PMC Article
Astrup GL, Rustøen T, Miaskowski C, Paul SM, Bjordal K
Pain 2015 May;156(5):967-79. doi: 10.1097/j.pain.0000000000000142. PMID: 25719616
Noel M, Rabbitts JA, Tai GG, Palermo TM
Pain 2015 May;156(5):800-8. doi: 10.1097/j.pain.0000000000000102. PMID: 25630028Free PMC Article
Klit H, Hansen AP, Marcussen NS, Finnerup NB, Jensen TS
Pain 2014 Dec;155(12):2699-706. Epub 2014 Oct 2 doi: 10.1016/j.pain.2014.09.037. [Epub ahead of print] PMID: 25284071

Diagnosis

Lavigne G, Khoury S, Chauny JM, Desautels A
Pain 2015 Apr;156 Suppl 1:S75-85. doi: 10.1097/j.pain.0000000000000111. PMID: 25789439
Morris MC, Walker L, Bruehl S, Hellman N, Sherman AL, Rao U
Pain 2015 May;156(5):917-22. doi: 10.1097/j.pain.0000000000000129. PMID: 25734994Free PMC Article
Wu Q, Inman RD, Davis KD
Pain 2015 Feb;156(2):297-304. doi: 10.1097/01.j.pain.0000460310.71572.16. PMID: 25599451
Mohammadi S, Dehghani M, Khatibi A, Sanderman R, Hagedoorn M
Pain 2015 Jan;156(1):123-30. doi: 10.1016/j.pain.0000000000000015. PMID: 25599308
Klit H, Hansen AP, Marcussen NS, Finnerup NB, Jensen TS
Pain 2014 Dec;155(12):2699-706. Epub 2014 Oct 2 doi: 10.1016/j.pain.2014.09.037. [Epub ahead of print] PMID: 25284071

Therapy

Dahan A, Olofsen E, Niesters M
Pain 2015 Apr;156 Suppl 1:S119-26. doi: 10.1016/j.pain.0000000000000023. PMID: 25789429
Hampton AJ, Hadjistavropoulos T, Gagnon MM, Williams J, Clark D
Pain 2015 May;156(5):868-79. doi: 10.1097/j.pain.0000000000000126. PMID: 25734999
Morris MC, Walker L, Bruehl S, Hellman N, Sherman AL, Rao U
Pain 2015 May;156(5):917-22. doi: 10.1097/j.pain.0000000000000129. PMID: 25734994Free PMC Article
Trost Z, Strachan E, Sullivan M, Vervoort T, Avery AR, Afari N
Pain 2015 Mar;156(3):514-20. doi: 10.1097/01.j.pain.0000460326.02891.fc. PMID: 25599234Free PMC Article
Demant DT, Lund K, Vollert J, Maier C, Segerdahl M, Finnerup NB, Jensen TS, Sindrup SH
Pain 2014 Nov;155(11):2263-73. Epub 2014 Aug 17 doi: 10.1016/j.pain.2014.08.014. [Epub ahead of print] PMID: 25139589

Prognosis

Lavigne G, Khoury S, Chauny JM, Desautels A
Pain 2015 Apr;156 Suppl 1:S75-85. doi: 10.1097/j.pain.0000000000000111. PMID: 25789439
Dahan A, Olofsen E, Niesters M
Pain 2015 Apr;156 Suppl 1:S119-26. doi: 10.1016/j.pain.0000000000000023. PMID: 25789429
Astrup GL, Rustøen T, Miaskowski C, Paul SM, Bjordal K
Pain 2015 May;156(5):967-79. doi: 10.1097/j.pain.0000000000000142. PMID: 25719616
Klit H, Hansen AP, Marcussen NS, Finnerup NB, Jensen TS
Pain 2014 Dec;155(12):2699-706. Epub 2014 Oct 2 doi: 10.1016/j.pain.2014.09.037. [Epub ahead of print] PMID: 25284071
Demant DT, Lund K, Vollert J, Maier C, Segerdahl M, Finnerup NB, Jensen TS, Sindrup SH
Pain 2014 Nov;155(11):2263-73. Epub 2014 Aug 17 doi: 10.1016/j.pain.2014.08.014. [Epub ahead of print] PMID: 25139589

Clinical prediction guides

Sampson EL, White N, Lord K, Leurent B, Vickerstaff V, Scott S, Jones L
Pain 2015 Apr;156(4):675-83. doi: 10.1097/j.pain.0000000000000095. PMID: 25790457Free PMC Article
Lavigne G, Khoury S, Chauny JM, Desautels A
Pain 2015 Apr;156 Suppl 1:S75-85. doi: 10.1097/j.pain.0000000000000111. PMID: 25789439
Astrup GL, Rustøen T, Miaskowski C, Paul SM, Bjordal K
Pain 2015 May;156(5):967-79. doi: 10.1097/j.pain.0000000000000142. PMID: 25719616
Cataldo G, Rajput S, Gupta K, Simone DA
Pain 2015 Apr;156(4):722-30. doi: 10.1097/j.pain.0000000000000104. PMID: 25630029Free PMC Article
Klit H, Hansen AP, Marcussen NS, Finnerup NB, Jensen TS
Pain 2014 Dec;155(12):2699-706. Epub 2014 Oct 2 doi: 10.1016/j.pain.2014.09.037. [Epub ahead of print] PMID: 25284071

Recent systematic reviews

Hunsinger M, Smith SM, Rothstein D, McKeown A, Parkhurst M, Hertz S, Katz NP, Lin AH, McDermott MP, Rappaport BA, Turk DC, Dworkin RH
Pain 2014 Nov;155(11):2253-62. Epub 2014 Aug 12 doi: 10.1016/j.pain.2014.08.004. [Epub ahead of print] PMID: 25123543
Petersen GL, Finnerup NB, Colloca L, Amanzio M, Price DD, Jensen TS, Vase L
Pain 2014 Aug;155(8):1426-34. Epub 2014 Apr 26 doi: 10.1016/j.pain.2014.04.016. [Epub ahead of print] PMID: 24780622Free PMC Article
Boerner KE, Birnie KA, Caes L, Schinkel M, Chambers CT
Pain 2014 May;155(5):983-93. Epub 2014 Feb 6 doi: 10.1016/j.pain.2014.01.031. [Epub ahead of print] PMID: 24508752
Stevens BJ, Yamada J, Estabrooks CA, Stinson J, Campbell F, Scott SD, Cummings G; CIHR Team in Children’s Pain
Pain 2014 Jan;155(1):60-8. Epub 2013 Sep 8 doi: 10.1016/j.pain.2013.09.007. [Epub ahead of print] PMID: 24021861
Andrew Moore R
Pain 2013 Dec;154 Suppl 1:S77-86. Epub 2013 Mar 15 doi: 10.1016/j.pain.2013.03.024. [Epub ahead of print] PMID: 23622761

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