THREE CASES OF EPISODIC ATAXIA, HEMIPLEGIC MIGRAINE SPINOCEREBELLAR ATAXIA WITHIN A SINGLE FAMILYJournal: University Journal of Medicine and Medical Specialities (Vol.5, No. 5)
Publication Date: 2019-08-26
Authors : JASMINE KALYANI P;
Page : 23-25
Keywords : Ataxia; channelopathy; gene mutation; migraine; tremor;
We are reporting three interesting cases within a single family. First child 14 year old presenting with features of familial hemiplegic migraine type 1 and episodic ataxia type 2. Her younger sibling who was 12 years old presented with features of ataxia. Her 42 year old father had features suggestive of spinocerebellar ataxia type 6.The first child had headache which was throbbing and pulsatile associated with giddiness ,ataxia,nystagmus with left sided hemiplegia which was episodic and each episode lasting for 4 hours for the past 2 years and the patient gradually recovered from hemiplegia within 12 hrs with treatment . The second patient presented with ataxia with tandem gait difficulty which was persistent not positional and paroxysmal for 2 years. The third patient had insidious onset and progressive nature of unsteadiness ,dysarthria ,appendicular incoordination and intention tremor of six years duration . These three members of the same family with familial hemiplegic migraine type1 , episodic ataxia type 2 and spinocerebellar ataxia type 6 could be due to a single chromosomal disorder presenting with a channellopathy.
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