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Há 3 dias · Progressive ataxia and palatal tremor (PAPT) is a rare sporadic or familial syndrome characterised by symptomatic palatal tremor/myoclonus and progressive cerebellar ataxia, usually in the setting of bilateral hypertrophic olivary degeneration without an identifiable causative lesion to the triangle of Guillain and Mollaret ...
Há 4 dias · Vanishing white matter disease (VWM), also known as childhood ataxia with central hypomyelination (CACH), is a rare, genetic leukoencephalopathy due to mutations in EIF2B subunit mutations, typically appearing as extensive white matter involvement with cavitary changes.
Há 5 dias · Early onset cerebellar ataxias are sufficiently distinct in aetiology and disease course from adult onset ataxias to warrant independent evaluation. It has long been assumed that complex (multisystem) ataxias are more frequent in the paediatric ataxia population but the proportion of genetic causes and the makeup of this group of ...
Há 4 dias · A subgroup of OAs called cerebral organic acidurias (COAs) manifest predominantly or exclusively with neurological symptomatology, such as ataxia, epilepsy, myoclonus, extrapyramidal symptoms, metabolic stroke, and macrocephaly, although metabolic acidosis, hyperammonemia, facial dysmorphism, and cerebral dysgenesis may also occur in some of ...
Há 4 dias · Abstract. Background: Spinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion disorder with highly variable penetrance. ATXN8OS/ATXN8 expanded alleles have been identified in association with other types of hereditary ataxias, pointing to a possible genetic synergism.
Há 3 dias · Ataxia cerebelar aguda pode ser uma das complicações, afetando equilíbrio e movimentos. Além disso, a trombocitopenia representa uma baixa quantidade de plaquetas no sangue.
Há 3 dias · Friedreich Ataxia (FA) is a neuromuscular condition that mainly affects the nervous system and the heart. It is commonly diagnosed between 5 and 18 year of age. The condition progresses slowly but its symptoms and severity can vary from person to person.
