-transparent.png){kind=logo}
BACKGROUND Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia is a type of autosomal dominant cerebellar ataxia which locus was found to be linked to the short arm of chromosome 12 and the etiology is unknown. METHODS A 12 years-old man who suffered from childhood daily episodes of sudden attacks sport induced with giddiness, ataxia and dysarthria for minutes. The familial history shows the same clinical findings in three generations. Intercritical general neurologic evaluation is otherwise normal. The following tests were performed with normal results: Biochemistry, electroencephalogram, cerebral magnetic resonance imaging. The electromyography showed myokymic discharges. The patient's symptoms improve on treatment with acetazolamide immediately. CONCLUSIONS Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia needs to think on it to be diagnosed. No typical complementary test (electromyography exception) induces to base diagnosis in the clinical findings, the familial history and the fast clinical improvement after starting treatment with acetazolamide.
F Gómez-Gosálvez, and
P Smeyers, and
P Escrivá, and
F Clemente, and
J Mallada, and
F Mulas, and
F Palao, and
E Millet
November 1984,
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques,
F Gómez-Gosálvez, and
P Smeyers, and
P Escrivá, and
F Clemente, and
J Mallada, and
F Mulas, and
F Palao, and
E Millet
January 1985,
Clinical neurology and neurosurgery,
F Gómez-Gosálvez, and
P Smeyers, and
P Escrivá, and
F Clemente, and
J Mallada, and
F Mulas, and
F Palao, and
E Millet
January 1985,
Revue neurologique,
F Gómez-Gosálvez, and
P Smeyers, and
P Escrivá, and
F Clemente, and
J Mallada, and
F Mulas, and
F Palao, and
E Millet
May 1975,
Journal of the neurological sciences,
F Gómez-Gosálvez, and
P Smeyers, and
P Escrivá, and
F Clemente, and
J Mallada, and
F Mulas, and
F Palao, and
E Millet
June 1995,
American journal of human genetics,
F Gómez-Gosálvez, and
P Smeyers, and
P Escrivá, and
F Clemente, and
J Mallada, and
F Mulas, and
F Palao, and
E Millet
January 1983,
Revue neurologique,
F Gómez-Gosálvez, and
P Smeyers, and
P Escrivá, and
F Clemente, and
J Mallada, and
F Mulas, and
F Palao, and
E Millet
November 2022,
Cureus,
F Gómez-Gosálvez, and
P Smeyers, and
P Escrivá, and
F Clemente, and
J Mallada, and
F Mulas, and
F Palao, and
E Millet
January 1981,
Transactions of the American Neurological Association,
F Gómez-Gosálvez, and
P Smeyers, and
P Escrivá, and
F Clemente, and
J Mallada, and
F Mulas, and
F Palao, and
E Millet
September 1989,
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde,
F Gómez-Gosálvez, and
P Smeyers, and
P Escrivá, and
F Clemente, and
J Mallada, and
F Mulas, and
F Palao, and
E Millet
March 1989,
The Medical journal of Australia,
