Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
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Drug
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Target Concepts:
Gene/Protein
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Query: UMLS:C0233565 (
bradykinesia
)
2,352
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Pontocerebellar hypoplasia
type 6 (PCH6) is an autosomal recessive mitochondrial disease, typically characterized by pontine atrophy, vermian hypoplasia, infantile encephalopathy, generalized hypotonia, and intractable seizures. The purpose of this study is to describe the seizures and other neurological manifestations of
RARS
2 gene mutations and to compare the clinical features with other causes of progressive myoclonic epilepsy. Detailed history, physical examination, and clinical and genetic work-up were performed in 2 siblings who presented with progressive myoclonic epilepsy. One sibling, a 20-year-old woman, and the other a 24-year-old man, had a homozygous missense variant (c.848T>A; p.Leu283Gln) in exon 10 of the
RARS
2 gene. The female patient had action and audiogenic myoclonic jerks, postural tremors, spastic dysarthria, and
bradykinesia
, and her male sibling had similar features with oculomotor apraxia. The
RARS
2 gene mutation can present with myoclonic epilepsy, mental retardation, and pyramidal and extrapyramidal features, and is an important differential for causes of progressive myoclonic epilepsy.
...
PMID:Expanding spectrum of
RARS
2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. 2988 6
