ABSTRACT
On examination, the patient’s cognitive, cranial nerve, sensory, and cerebellar examinations were normal. Motor examination showed stereotypic movement of the trunk and legs, with sustained extension of her trunk and neck, extension of the legs, and inversion of the feet. She was unable to walk secondary to the marked spasms. Family history was negative for neurological disease. She was diagnosed with generalized dystonia (see video, Case 8 ). Testing for the DYT1 gene was positive. She was treated with trihexyphenidyl, escalated slowly to 80 mg per day, baclofen to 110 mg per day, and lorazepam 4 mg per day. She received small doses of botulinum toxin to cervical muscles. She has done well with treatment, and is now ambulatory with only mild, intermittent dystonic posturing of her trunk.
