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Paradoxical myotonia

MedGen UID:
868774
•Concept ID:
C4023179
•
Disease or Syndrome
HPO: HP:0011809

Definition

A type of myotonia that worsens with repeated muscle contractions. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParadoxical myotonia

Conditions with this feature

Paramyotonia congenita of Von Eulenburg
MedGen UID:
113142
•Concept ID:
C0221055
•
Disease or Syndrome
Paramyotonia congenita (PMC) is an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by Ptacek et al., 1992).
See: Condition Record
Paramyotonia congenita of Von Eulenburg

Professional guidelines

PubMed

Differential diagnosis of myotonic disorders.
Miller TM
Muscle Nerve 2008 Mar;37(3):293-9. doi: 10.1002/mus.20923. PMID: 18067134

Recent clinical studies

Etiology

Buprenorphine may be effective for treatment of paramyotonia congenita.
Ravaglia S, Maggi L, Zito A, Arceri S, Gallotti P, Altamura C, Desaphy JF, Bernasconi P, Alfonsi E
Muscle Nerve 2021 Jul;64(1):95-99. Epub 2021 Apr 20 doi: 10.1002/mus.27249. PMID: 33835497
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium
Brain 2013 Jul;136(Pt 7):2189-200. Epub 2013 Jun 13 doi: 10.1093/brain/awt133. PMID: 23771340Free PMC Article
A quantitative measure of handgrip myotonia in non-dystrophic myotonia.
Statland JM, Bundy BN, Wang Y, Trivedi JR, Raja Rayan D, Herbelin L, Donlan M, McLin R, Eichinger KJ, Findlater K, Dewar L, Pandya S, Martens WB, Venance SL, Matthews E, Amato AA, Hanna MG, Griggs RC, Barohn RJ; CINCH Consortium
Muscle Nerve 2012 Oct;46(4):482-9. doi: 10.1002/mus.23402. PMID: 22987687Free PMC Article
Relief from episodic weakness with pyridostigmine in paramyotonia congenita: a family study.
Khadilkar SV, Singh RK, Mansukhani KA, Urtizberea JA, Sternberg D
Muscle Nerve 2010 Jan;41(1):133-7. doi: 10.1002/mus.21434. PMID: 19768756

Diagnosis

Buprenorphine may be effective for treatment of paramyotonia congenita.
Ravaglia S, Maggi L, Zito A, Arceri S, Gallotti P, Altamura C, Desaphy JF, Bernasconi P, Alfonsi E
Muscle Nerve 2021 Jul;64(1):95-99. Epub 2021 Apr 20 doi: 10.1002/mus.27249. PMID: 33835497
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium
Brain 2013 Jul;136(Pt 7):2189-200. Epub 2013 Jun 13 doi: 10.1093/brain/awt133. PMID: 23771340Free PMC Article
A quantitative measure of handgrip myotonia in non-dystrophic myotonia.
Statland JM, Bundy BN, Wang Y, Trivedi JR, Raja Rayan D, Herbelin L, Donlan M, McLin R, Eichinger KJ, Findlater K, Dewar L, Pandya S, Martens WB, Venance SL, Matthews E, Amato AA, Hanna MG, Griggs RC, Barohn RJ; CINCH Consortium
Muscle Nerve 2012 Oct;46(4):482-9. doi: 10.1002/mus.23402. PMID: 22987687Free PMC Article
Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.
Trip J, Drost G, Ginjaar HB, Nieman FH, van der Kooi AJ, de Visser M, van Engelen BG, Faber CG
J Neurol Neurosurg Psychiatry 2009 Jun;80(6):647-52. Epub 2009 Feb 11 doi: 10.1136/jnnp.2008.162396. PMID: 19211598
A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
Kim DS, Kim EJ, Jung DS, Park KH, Kim IJ, Kwak KY, Kim CM, Ko HY
J Korean Med Sci 2002 Dec;17(6):856-60. doi: 10.3346/jkms.2002.17.6.856. PMID: 12483017Free PMC Article

Therapy

Buprenorphine may be effective for treatment of paramyotonia congenita.
Ravaglia S, Maggi L, Zito A, Arceri S, Gallotti P, Altamura C, Desaphy JF, Bernasconi P, Alfonsi E
Muscle Nerve 2021 Jul;64(1):95-99. Epub 2021 Apr 20 doi: 10.1002/mus.27249. PMID: 33835497
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium
Brain 2013 Jul;136(Pt 7):2189-200. Epub 2013 Jun 13 doi: 10.1093/brain/awt133. PMID: 23771340Free PMC Article
A quantitative measure of handgrip myotonia in non-dystrophic myotonia.
Statland JM, Bundy BN, Wang Y, Trivedi JR, Raja Rayan D, Herbelin L, Donlan M, McLin R, Eichinger KJ, Findlater K, Dewar L, Pandya S, Martens WB, Venance SL, Matthews E, Amato AA, Hanna MG, Griggs RC, Barohn RJ; CINCH Consortium
Muscle Nerve 2012 Oct;46(4):482-9. doi: 10.1002/mus.23402. PMID: 22987687Free PMC Article
Relief from episodic weakness with pyridostigmine in paramyotonia congenita: a family study.
Khadilkar SV, Singh RK, Mansukhani KA, Urtizberea JA, Sternberg D
Muscle Nerve 2010 Jan;41(1):133-7. doi: 10.1002/mus.21434. PMID: 19768756
Clinical study of paramyotonia congenita with and without myotonia in a warm environment.
Haass A, Ricker K, Rüdel R, Lehmann-Horn F, Böhlen R, Dengler R, Mertens HG
Muscle Nerve 1981 Sep-Oct;4(5):388-95. doi: 10.1002/mus.880040507. PMID: 6793868

Prognosis

Relief from episodic weakness with pyridostigmine in paramyotonia congenita: a family study.
Khadilkar SV, Singh RK, Mansukhani KA, Urtizberea JA, Sternberg D
Muscle Nerve 2010 Jan;41(1):133-7. doi: 10.1002/mus.21434. PMID: 19768756
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F
Neurology 1997 Oct;49(4):1018-25. doi: 10.1212/wnl.49.4.1018. PMID: 9339683

Clinical prediction guides

Buprenorphine may be effective for treatment of paramyotonia congenita.
Ravaglia S, Maggi L, Zito A, Arceri S, Gallotti P, Altamura C, Desaphy JF, Bernasconi P, Alfonsi E
Muscle Nerve 2021 Jul;64(1):95-99. Epub 2021 Apr 20 doi: 10.1002/mus.27249. PMID: 33835497
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium
Brain 2013 Jul;136(Pt 7):2189-200. Epub 2013 Jun 13 doi: 10.1093/brain/awt133. PMID: 23771340Free PMC Article
Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.
Trip J, Drost G, Ginjaar HB, Nieman FH, van der Kooi AJ, de Visser M, van Engelen BG, Faber CG
J Neurol Neurosurg Psychiatry 2009 Jun;80(6):647-52. Epub 2009 Feb 11 doi: 10.1136/jnnp.2008.162396. PMID: 19211598
A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
Kim DS, Kim EJ, Jung DS, Park KH, Kim IJ, Kwak KY, Kim CM, Ko HY
J Korean Med Sci 2002 Dec;17(6):856-60. doi: 10.3346/jkms.2002.17.6.856. PMID: 12483017Free PMC Article
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F
Neurology 1997 Oct;49(4):1018-25. doi: 10.1212/wnl.49.4.1018. PMID: 9339683

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