Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dystonic storm or status dystonicus is a life-threatening hyperkinetic movement disorder with biochemical alterations due to the excessive muscle contractions. The medical management can require pediatric intensive care unit admission and a combination of medications while the underlying trigger is managed. Severe cases may require general anesthesia and paralytic agents with intubation and may relapse when these drugs are weaned. Deep brain stimulation of the globus pallidum has been reported to terminate dystonic storm in several pediatric cases. We present a 10-year-old boy with a de novo GNAO1 mutation-induced dystonic storm who required a 2-month pediatric intensive care unit admission and remained refractory to all medical treatments. Deep brain stimulation was performed under general anesthetic without complication. His dyskinetic movements stopped with initiation of stimulation. He was discharged from the pediatric intensive care unit after 4 days. We present prospectively evaluated changes in dystonia symptoms and quality of life for a patient with GNAO1 mutation treated with deep brain stimulation.
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PMID:GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation. 2966 Nov 26

GNAO1 variants were recently discovered as causes of epileptic encephalopathies and heterogeneous syndromes presenting with movement disorders (MDs), whose phenomenology and clinical course are yet undefined. We herein focused on GNAO1-related MD, providing an analytical review of existing data to outline the main MD phenomenology and management, clinical evolution and genotype-phenotype correlations. Reviewing 41 previously published patients and assessing 5 novel cases, a comprehensive cohort of 46 patients was analyzed, reassuming knowledge about genotypes, phenotypes, disease course and treatment of this condition. GNAO1-related MD consisted of a severe early-onset hyperkinetic syndrome, with prominent chorea, dystonia and orofacial dyskinesia. Symptoms are poorly responsive to medical therapy and fluctuate, with critical and life-threatening exacerbations, such as status dystonicus. The presence of a choreiform MD appears to be predictive of a higher risk of movement disorder emergency. Surgical treatments are sometimes effective, although severe disabilities persist. Differently from the early infantile epileptic encephalopathy phenotype (associated with loss of function variants), no clear correlation between genotype and MD phenotype emerged, although some variants recurred more frequently, mainly affecting exons 6 and 7.
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PMID:Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review. 3064 6