Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.
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منابع مشابه
Acetazolamide-responsive hereditary paroxysmal ataxia: report of a family.
Hereditary paroxysmal ataxia is a rare dominantly inherited disorder characterized by recurrent attacks of cerebellar ataxia, dysarthria, and nystagmus. Each attack lasts from several minutes to few hours or days. Usually there are no motor difficulties between attacks. We report a patient who had had recurrent ataxic episodes since early childhood. Four members of the family over two generatio...
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Two cases, a father and son, of recurrent cerebellar ataxia in the same family are reported, suggesting a familial trait for the dysfunction. In the older male the onset of each episode (30-90 min.) was signalled by dysarthria which then progressed towards gait ataxia; the son presented closely similar clinical symptoms. Physical examination and blood chemistry revealed no obvious neurological ...
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how to cite this article: shervin badv r, niksirat a. downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report. iran j child neurol. 2013 autumn; 7(4):58- 60. objective episodic ataxia type 2 (ea2) is an inherited autosomal dominant disorder characterized by intermittent ataxia, nausea, vomiting, dysarthria, or nystagmus. we report a case of ea2, whic...
متن کاملAcetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.
Episodic ataxia type 2 is an autosomal dominant disorder with attacks of vertigo and ataxia which respond to acetazolamide treatment. The gene, distinct from the KCNA1 responsible for episodic ataxia type 1, has been mapped on chromosome 19p13 in a 11-12 cM region. A large Italian kindred affected with acetazolamide-responsive episodic ataxia is reported, with onset in adulthood, a strong vesti...
متن کاملAcetazolamide-responsive paroxysmal dyskinesia in a 12-week-old female golden retriever dog.
Acetazolamide-responsive paroxysmal dyskinesia in a 12-week-old female golden retriever dog Emilie Royaux, Sofie Bhatti, Robert Harvey, Laurent Garosi, G. Diane Shelton & Luc Van Ham To cite this article: Emilie Royaux, Sofie Bhatti, Robert Harvey, Laurent Garosi, G. Diane Shelton & Luc Van Ham (2016) Acetazolamide-responsive paroxysmal dyskinesia in a 12-week-old female golden retriever dog, V...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1995
ISSN: 0022-3050
DOI: 10.1136/jnnp.59.4.400