Hemidystonia‐hemiatrophy syndrome

To define the clinical and radiological features of patients with the combination of hemidystonia (HD) and hemiatrophy (HA), the HD‐HA syndrome. HD is a very disabling neurological condition that is rarely associated with HA of the affected body part, similar to the hemiparkinsonism‐hemiatrophy syndrome. Method: We reviewed the medical records of 26 patients with the HD‐HA syndrome and the data was entered into a database and analyzed. Video recordings as well as imaging studies were also reviewed. Twenty six patients (14 female) with a mean age at onset of HD at 14.9 years (1–46 years) were followed for a mean of 3.4 years. Fourteen (53%) had HD and HA on the left side and 23 (88%) had hemiparesis preceding the onset of HD. The mean latency from the onset of hemiparesis to the onset of HD was 14.7 years (2 weeks–46 years). All patients with hemiparesis had marked improvement in their weakness prior to the onset of HD. Common causes leading to hemiparesis and subsequent HD were birth or perinatal complications (N = 13) and stroke (N = 10). Seven patients (26%) had associated seizures. Twenty two patients (85%) had abnormal brain MRI: eight had lesions directly involving the basal ganglia and nine had cerebral hemiatrophy or non specific diffuse atrophy. Sixteen patients received botulinum toxin injections and responded well to treatment. HD‐HA is usually associated with static encephalopathy originating at very young age, but the syndrome may also represent delayed sequelae of a stroke or brain injury. © 2008 Movement Disorder Society