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)

After a clarifying outline on the most recent anatomo-physiopathologic acquisitions about muscular tone and spasticity, the Author presents the results of a prolonged administration (three months) which was daily controlled, in an Institute for dyskinetic subjects. At the dose of 1 mg/kg/die during the first week, 2 mg/kg/die during the second week and 3 mg/kg/die during the third and the following ones (total posology pro die divided into 3 post-prandium administrations), Dantrolene was administered to 16 subjects of both sexes, whose average age was 13, who presented marked spasticity sometimes accompanied by dystonia. An evaluation was given on these parameters: 1) spasticity estimated in three degrees according to Morosini, 2) passive articular movement (wideness and easiness of maximum excursion), 3) capability of voluntary decontraction, 4) motoricity of relation (motorial difficulty) and 5) dystonic component if present. As a global results, out of 16 cases, nine improved (56%) and seven (44%) remained unaltered. Since the drug resulted to be inefficacious in all cases with dystonia, the global improvement recorded among "pure spastics" rised to 66% of cases. Neither intolerances nor negative secundary effects were noticed.
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PMID:[Dantrolene in juvenile spasticity: 3 months of daily observation]. 45 97

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive inborn error of metabolism in which several neurotransmitters including serotonin, dopamine, norepinephrine and epinephrine are deficient. Symptoms typically appear in the first year of life and include oculogyric crises and dystonia, hypotonia, and global developmental delay. Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. Rhabdomyolysis can become life-threating and therefore its recognition and prompt management is of significant importance. Here we present two cases of patients with AADC deficiency and a history of dystonic crisis causing rhabdomyolysis. We hypothesize that in addition to the hypodopaminergic, a hypercholinergic state is contributing to the pathophysiology of dystonia in AADC deficiency, as well as to the associated rhabdomyolysis. We were able to prevent rhabdomyolysis in both patients with using Dantrolene and we suggest using a trial of this medication in cases of sustained dystonic crisis in AADC deficiency patients.
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PMID:Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency. 3193 64