ICNC Abstracts, ICNC 2018

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Spinocerebellar ataxia 35
Manimala S

Last modified: 2018-09-09

Abstract


A 6 years old Male child first born of non consanguineous parents with normal birth and developmental history, presented with  truncal unsteadiness while walking which was non progressive and choreiform movements since around  3 years of age.  His medical history otherwise unremarkable and has no relevant past and family history. His vitals and general examination were normal.  He had  staccato speech, end gaze nystagmus, truncal ataxia, choreic movements at shoulders, intention tremors .  Cranial nerves including fundus,  motor  and sensory sytem examination were normal.  Preliminary blood tests  were normal.  Metabolic work up revealed raised lactate and ammonia levels hence inborn error of metabolism was suspected .  Urine for reducing substance, aminoacids and organic acids were sent and  ruled out IEM.  Other causes of chorea like Rheumatic fever and Wilson disease were excluded by evaluation.  EEG showed abnormal record with bilateral epileptiform activity.  MRI brain was normal.  Genetic testing revealed mutation in TGM6 gene, hence he was diagnosed to have Spinocerebellar ataxia 35 .  20 different types of spinocerebellar ataxia reported in literatures but this one is a novel mutation.


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