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Paramyotonia congenita of Von Eulenburg

Disease definition

Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness.

ORPHA:684

Classification level: Disorder
  • Synonym(s):
    • Paramyotonia congenita
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: G71.1
  • ICD-11: 8C74.0
  • OMIM: 168300
  • UMLS: C0221055
  • MeSH: C538616
  • GARD: 7325
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown.

Clinical description

The syndrome is nonprogressive.

Etiology

It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).

Genetic counseling

The disease is transmitted as an autosomal dominant trait

Expert reviewer(s):  Pr Bertrand FONTAINE - Last update: June 2007

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Nederlands (2007) Português (2007) Italiano (2008)

Detailed information

General public

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.