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Gamstorp's disease


Also known as:
Gamstorp's syndrome
Westphal’s hyperkalemic syndrome

Synonyms:
Adynamia episodica hereditaria, hereditary adynamia syndrome, hereditary episodic adynamia, hyperkalemic periodic paralysis, hyperpotassemic periodic paralysis, periodic hyperptassemic paralysis, periodic paralysis.

Associated persons:
Ingrid Gamstorp

Description:
An inheritable condition characterised by attcks of sponatneously abating paralysis, particularly of the muscles of the extremities and trunk, occurring mainly in children under the age of 10 years. In most patients, the attacks occur during rest after exertion, lasting at most 1 hour.

Clinically similar to myoplegia paroxysmatica (paralysis familiaris periodica, but is pathogenically its oppsite, as attacks are provoked by calium and prevented by carbohydrates. In its mildest form expresses itself as asymptomatic myotonia. Precipitating factors are rest after exertion, cold and dampness, hunger. Hyperkalemia without any increase in the excretion of potassium in the urine is a constant feature. Mental faculties not affected. Both sexes affected; more severe in males; onset during first decade. Inheritance is autosomal dominant.

We thank Daniel Araujo for information submitted.

Bibliography:
  • I. Gamstorp:
    Adynamia episodica hereditaria.
    Acta Pædiatrica Scandinavica, Stockholm, 1956, 45 (Supplement 108): 1-126.

  • Sergio I. Magalini, Sabina C. Magalini, Giovanni de Francisi:
    Dictionary of Medical Syndromes. J. B. Lippincott Company, Philadelphia. 1990.

  • Stanley Jablonski:
    Jablonski’s Dictionary of Syndromes & Eponymic diseases.
    Krieger Publishing Company, Malabar, Florida, 1991.




 
 

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