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Myotonia permanens

MedGen UID:
987070
Concept ID:
CN305371
Disease or Syndrome
Synonym: myotonia permanens
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: 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.
 
Monarch Initiative: MONDO:0020482
Orphanet: ORPHA99735

Definition

A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Myotonia permanens

Professional guidelines

PubMed

Plassart E, Reboul J, Rime CS, Recan D, Millasseau P, Eymard B, Pelletier J, Thomas C, Chapon F, Desnuelle C
Eur J Hum Genet 1994;2(2):110-24. doi: 10.1159/000472351. PMID: 8044656

Recent clinical studies

Etiology

Avila-Smirnow D, Vargas Leal CP, Beytía Reyes MLA, Cortés Zepeda R, Escobar RG, Kleinsteuber Saa K, Lagos Lucero M, Avaria Benapres MLA, Padilla Pérez O, Casar Leturia JC, Mellado Sagredo C, Sternberg D
Neuromuscul Disord 2020 Jul;30(7):554-561. Epub 2020 May 19 doi: 10.1016/j.nmd.2020.04.006. PMID: 32593548
Caietta E, Milh M, Sternberg D, Lépine A, Boulay C, McGonigal A, Chabrol B
Pediatrics 2013 Sep;132(3):e784-7. Epub 2013 Aug 19 doi: 10.1542/peds.2012-3065. PMID: 23958773
Lehmann-Horn F, Rüdel R
Curr Opin Neurol 1995 Oct;8(5):402-10. doi: 10.1097/00019052-199510000-00014. PMID: 8542048

Diagnosis

Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K
Acta Myol 2017 Sep;36(3):125-134. Epub 2017 Sep 1 PMID: 29774303Free PMC Article
Desaphy JF, Carbonara R, D'Amico A, Modoni A, Roussel J, Imbrici P, Pagliarani S, Lucchiari S, Lo Monaco M, Conte Camerino D
Neurology 2016 May 31;86(22):2100-8. Epub 2016 Apr 29 doi: 10.1212/WNL.0000000000002721. PMID: 27164696Free PMC Article
Portaro S, Rodolico C, Sinicropi S, Musumeci O, Valenzise M, Toscano A
Pediatrics 2016 Apr;137(4) Epub 2016 Mar 4 doi: 10.1542/peds.2015-3289. PMID: 26944947
Caietta E, Milh M, Sternberg D, Lépine A, Boulay C, McGonigal A, Chabrol B
Pediatrics 2013 Sep;132(3):e784-7. Epub 2013 Aug 19 doi: 10.1542/peds.2012-3065. PMID: 23958773

Therapy

Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K
Acta Myol 2017 Sep;36(3):125-134. Epub 2017 Sep 1 PMID: 29774303Free PMC Article
Desaphy JF, Carbonara R, D'Amico A, Modoni A, Roussel J, Imbrici P, Pagliarani S, Lucchiari S, Lo Monaco M, Conte Camerino D
Neurology 2016 May 31;86(22):2100-8. Epub 2016 Apr 29 doi: 10.1212/WNL.0000000000002721. PMID: 27164696Free PMC Article
Portaro S, Rodolico C, Sinicropi S, Musumeci O, Valenzise M, Toscano A
Pediatrics 2016 Apr;137(4) Epub 2016 Mar 4 doi: 10.1542/peds.2015-3289. PMID: 26944947
Caietta E, Milh M, Sternberg D, Lépine A, Boulay C, McGonigal A, Chabrol B
Pediatrics 2013 Sep;132(3):e784-7. Epub 2013 Aug 19 doi: 10.1542/peds.2012-3065. PMID: 23958773

Prognosis

Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K
Acta Myol 2017 Sep;36(3):125-134. Epub 2017 Sep 1 PMID: 29774303Free PMC Article
Caietta E, Milh M, Sternberg D, Lépine A, Boulay C, McGonigal A, Chabrol B
Pediatrics 2013 Sep;132(3):e784-7. Epub 2013 Aug 19 doi: 10.1542/peds.2012-3065. PMID: 23958773

Clinical prediction guides

Avila-Smirnow D, Vargas Leal CP, Beytía Reyes MLA, Cortés Zepeda R, Escobar RG, Kleinsteuber Saa K, Lagos Lucero M, Avaria Benapres MLA, Padilla Pérez O, Casar Leturia JC, Mellado Sagredo C, Sternberg D
Neuromuscul Disord 2020 Jul;30(7):554-561. Epub 2020 May 19 doi: 10.1016/j.nmd.2020.04.006. PMID: 32593548
Desaphy JF, Carbonara R, D'Amico A, Modoni A, Roussel J, Imbrici P, Pagliarani S, Lucchiari S, Lo Monaco M, Conte Camerino D
Neurology 2016 May 31;86(22):2100-8. Epub 2016 Apr 29 doi: 10.1212/WNL.0000000000002721. PMID: 27164696Free PMC Article
Caietta E, Milh M, Sternberg D, Lépine A, Boulay C, McGonigal A, Chabrol B
Pediatrics 2013 Sep;132(3):e784-7. Epub 2013 Aug 19 doi: 10.1542/peds.2012-3065. PMID: 23958773

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