Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging.

Abstract

We report two families with a disorder, probably autosomal recessive, characterized by tremor of juvenile onset, dystonia, and myoclonus with preserved cognitive, cerebellar, and peripheral nervous system functions. During 4 years' follow-up, mild spasticity appeared. Magnetic resonance imaging (MRI) revealed mild diffuse changes in the white matter. Central conduction times for visual, motor, and sensory systems were all prolonged. Extensive metabolic work-up failed to reveal lysosomal, peroxisomal, mitochondrial, or other metabolic abnormalities.

• Authors: S Bohlega, B Stigsby, M Z al-Kawi, D R McLean, P Ozand, S Omer, P Coates
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 10 Issue 4 Pg. 513-7 (Jul 1995) ISSN: 0885-3185 [Print] United States
• PMID: 7565837 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Adult
• Brain (pathology)
• Brain Diseases, Metabolic (diagnosis, genetics)
• Child
• Chromosome Aberrations (genetics)
• Chromosome Disorders
• Consanguinity
• Dystonia (diagnosis, genetics)
• Female
• Follow-Up Studies
• Genes, Recessive
• Humans
• Magnetic Resonance Imaging
• Male
• Myoclonus (diagnosis, genetics)
• Neurologic Examination
• Pedigree
• Saudi Arabia
• Tremor (diagnosis, genetics)