The primary torsion dystonias are a clinically and genetically heterogeneous group of movement disorders characterized by sustained or intermittent involuntary muscle contractions, causing abnormal segmental movements or incorrect postures or both. These symptoms have been associated with defects in mitochondrial oxidative phosphorylation. We have treated two female patients affected by sporadic, idiopathic, late-onset primary dystonia with high doses (100 mg twice a week) of intramuscular thiamine for 6-7 months.
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