Last modified: 2014-04-03
Abstract
A 12-year-old with appropriate development male was healthy until the age of 10. At that age he began to have difficulty to write and had dystonia at supination of the right wrist associated with myoclonus. His Brain MRI was normal and eletroneuromiography exam, confirmed the dystonic pattern with myoclonic components. There was no response to treatment with levodopa and benserazide even with titration of the dosage. He was stable for a year then presented dystonia during gait in lower limbs with a tendency to foot inversion. A Molecular study was performed to mutations the epsilon - sarcoglycano gene (SGCE) responsible for Myoclonic Dystonia (DYT 11) no changes were found. Exome sequencing identified the variant c . 907_909del GAG (p.Glu303del) in TOR1A gene that variant leads to a deletion of the amino acid glutamate at codon 303.
Discussion: The torsion dystonia is a neurogenetic disorder with autosomal dominant inheritance caused by mutations in the gene TOR1A locus 9q34.11 with incomplete penetrance. The onset of symptoms occurs in the second half of the first decade of life. The symptoms begin in the limbs and evolve to a global dystonia. This case presents important presence of myoclonus since the onset of dystonia and it also has symptoms initially in the arms. It was initially thought to be a myoclonus dystonia (DYT 11). There are no reports of other affected family members which mean that the dystonia is secondary to a de novo mutation or even the result of a low penetrance gene.
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References
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