Results 1 - 6 of 6 for Infantile onset spinocerebellar ataxia
  1. Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during ... Registry: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Infantile ... Disease InfoSearch National Organization for Rare Disorders (NORD) ...
  2. ... the TWNK gene have been found to cause infantile-onset spinocerebellar ataxia (IOSCA). The most common mutation replaces the protein ... Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with ...
  3. Cerebellar Disorders (National Library of Medicine)  
    When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
  4. Muscular Dystrophy: Hope Through Research From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Introduction ...
  5. ... de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum ...
  6. ... familial hemiplegic migraine. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by ... CACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia. 2009 Nov;50(11):2501-3. ...