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From the Division of Neurosciences (S.J. Pittock, V. O’Keane, Dr. Hardiman, and F. Brett), Beaumont Hospital; the Department of Medical Genetics (C. Joyce, B. Hugle, and Drs. Green and Barton), University College; Department of Neurology (Dr. King), the Children’s Hospital, Temple Street; and the Department of Neurology (Dr. Webb), Our Lady’s Hospital for Sick Children, Crumlin, Dublin, Ireland.
Address correspondence and reprint requests to Dr. David Webb, Consultant Pediatric Neurologist, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12, Ireland; e-mail: david.webb{at}olhsc.ie
BACKGROUND: Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder linked to chromosome 19q13 that is characterized by sudden onset of primarily bulbar and upper limb dystonia with parkinsonism.
METHODS: The authors evaluated 12 individuals from three generations of an Irish family and obtained detailed medical records on a deceased member. The authors describe the clinical, psychiatric, and genetic features of the affected individuals.
RESULTS: Five of eight affected members developed sudden-onset (several hours to days) dystonia with postural instability. Four of the five also had bulbar symptoms. Two have stable focal or segmental limb dystonia. One has intermittent hemidystonia with dysarthria that comes on abruptly in times of stress or anxiety. Three had a history of profound difficulty socializing, and at presentation two developed depression. Three patients had a trial of dopamine agonists without benefit. Genetic analysis suggests linkage to chromosome 19 with lod score of 2.1 at zero recombination.
CONCLUSION: This is the third reported family with chromosome 19q13 rapid-onset dystonia-parkinsonism. Psychiatric morbidity appeared common in affected members of this family and may be part of the RDP phenotype.
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