title: [Adynamia episodica hereditaria: Gamstorp's disease or Eulenburg's paramyotonia?].
abstract: Over seven generations owing 71 identified and studied persons, 18 (12 males and 6 females) suffered paroxystically adynamic paralysis or myotonic accesses. A such association is rare and according to the proeminent symptoms is denominated as hyperkaliemic periodic paralysis or as congenital paramyotonia. In the both forms of the diseases: cold injury, fasting, long time resting, or efforts are able to provoke crisis and so does an oral potassium loading. Studies on Ka+Na membrane permeability suggest the responsibility of Na+ K+ pump and may explain the physiopathology of the alternative manifestations at the muscle cellular level but may be are rather a marker than a cause of permeability disturbances. In the present family, some clinical, biological and electrophysiological arguments suggest the unicity of the disease. A better way to confirm that would be the localisation of a unique gene in the patient. DNA samples of several members are in study for molecular biology in the hope to precise a identical location. Some informations from molecular biologists suggest a probable location near the myotonic dystrophy (M.D.) in the 19 q12 but not identical with it.
authors.affiliation: Service de Pédiatrie I et Génétique Médicale, Hôpital d'Enfants, CHU Nancy, Vandoeuvre.
authors.forename: M
authors.initials: M
authors.lastname: Pierson
authors.forename: B
authors.initials: B
authors.lastname: Leheup
authors.forename: C
authors.initials: C
authors.lastname: Jeandel
mesh_terms: D005799:Genes, Dominant; D006801:Humans; D009224:Myotonia Congenita / Q000235:genetics* / Q000503:physiopathology; D010245:Paralyses, Familial Periodic / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree
vernacular_title: Adynamie épisodique héréditaire: maladie de Gamstorp, paramyotonie d'Eulenburg?