Early-onset dystonia is incur-able and starts in childhood.
It is characterised by axial muscle involvement, sardonic smile, laryngeal dystonia and, in some cases, Parkinsonian features.
Unlike other forms of dysto-nia, it does not respond to medications, including levodopa and anticholinergics, say the researchers.
Study of two Brazilian fami-lies affected by the condition has shown that those affected with early-onset dystonia have a mutation in the gene encoding a protein called PRKRA. This protein helps cells respond to stress and inflammation.
The mutation, named DYT16, seems to be inherited recessively. It was not found in patients with other movement disorders.
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