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Paramyotonia Congenita without Cold Paralysis

MedGen UID:
358369
•Concept ID:
C1868619
•
Disease or Syndrome
Synonym: Paramyotonia Congenita Without Cold Paralysis
 
OMIM®: 168300

Definition

An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene. It is characterized by muscle stiffness, which is increased by exposure to cold but does not change to flaccid paralysis with intense cooling. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParamyotonia Congenita without Cold Paralysis

Professional guidelines

PubMed

Guidelines on clinical presentation and management of nondystrophic myotonias.
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM
Muscle Nerve 2020 Oct;62(4):430-444. Epub 2020 May 27 doi: 10.1002/mus.26887. PMID: 32270509Free PMC Article
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E
Neurologia (Engl Ed) 2020 Apr;35(3):185-206. Epub 2019 Apr 16 doi: 10.1016/j.nrl.2019.01.001. PMID: 31003788
Myotonic dystrophy: diagnosis, management and new therapies.
Turner C, Hilton-Jones D
Curr Opin Neurol 2014 Oct;27(5):599-606. doi: 10.1097/WCO.0000000000000128. PMID: 25121518

Recent clinical studies

Diagnosis

Paramyotonia congenita without cold paralysis and myotonia levoir. A genetic and clinical study.
Brüngger U, Kaeser HE
Eur Neurol 1977;15(1):2-4. doi: 10.1159/000114781. PMID: 852462

Therapy

Paramyotonia congenita without cold paralysis: a case report.
Izumi Y, Fukuuchi Y, Koto A, Nakajima S
Keio J Med 1994 Jun;43(2):94-7. doi: 10.2302/kjm.43.94. PMID: 8089960

Clinical prediction guides

Paramyotonia congenita without cold paralysis: a case report.
Izumi Y, Fukuuchi Y, Koto A, Nakajima S
Keio J Med 1994 Jun;43(2):94-7. doi: 10.2302/kjm.43.94. PMID: 8089960

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