Abstract |
Hyperkinetic dystonia is characterized by phasic, tremulous, and "jerky" movements in addition to twisting postures. We studied longitudinally 23 index patients with hyperkinetic dystonia from a quaternary pediatric movement disorder clinic in Ireland. Four clinical categories emerged: (1) Eight patients were diagnosed with myoclonus-dystonia, of whom seven carried heterozygous epsilon sarcoglycan (SGCE) mutations, including a novel deletion of exon 10. Gait disorder, unsteadiness, or frequent falls before 18 months were detected in all SGCE mutation carriers, whereas the typical neck-predominant presentation developed only years later. (2) One patient classified as benign hereditary chorea, because jerks were choreiform and continuous rather than action-induced, carried a heterozygous stop mutation of the TITF-1 gene (Y114X, exon 2). (3) Three mutation-negative patients were grouped as " myoclonic dystonia" with jerks only in the body regions affected by dystonia. (4) Eleven patients presented with a novel combination of dystonia and low amplitude poly-mini myoclonus of the upper limbs and pectoral muscles (D-PMM). In early childhood up to 3 years of age, an initial presentation with predominant gait impairment with only subtle jerks should prompt consideration of SGCE mutation analysis in addition to testing for DYT1 mutations. A causative gene for D-PMM remains to be identified.
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Authors | Friedrich Asmus, Annette Langseth, Elaine Doherty, Therese Nestor, Marita Munz, Thomas Gasser, Tim Lynch, Mary D King |
Journal | Movement disorders : official journal of the Movement Disorder Society
(Mov Disord)
Vol. 24
Issue 5
Pg. 702-9
(Apr 15 2009)
ISSN: 1531-8257 [Electronic] United States |
PMID | 19117362
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Anticonvulsants
- Antiparkinson Agents
- Nuclear Proteins
- SGCG protein, human
- Sarcoglycans
- Thyroid Nuclear Factor 1
- Transcription Factors
- Tyrosine
- Levodopa
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Topics |
- Adolescent
- Adult
- Age of Onset
- Anticonvulsants
(therapeutic use)
- Antiparkinson Agents
(therapeutic use)
- Child
- Child, Preschool
- DNA Mutational Analysis
- Dystonia
(complications, diagnosis, drug therapy, genetics)
- Exons
- Female
- Genetic Testing
- Genotype
- Humans
- Hyperkinesis
(complications, diagnosis, drug therapy, genetics)
- Levodopa
(therapeutic use)
- Longitudinal Studies
- Male
- Middle Aged
- Muscle, Skeletal
(physiopathology)
- Mutation
(genetics)
- Myoclonus
(genetics, physiopathology)
- Nuclear Proteins
(genetics)
- Phenotype
- Sarcoglycans
(genetics)
- Severity of Illness Index
- Thyroid Nuclear Factor 1
- Transcription Factors
(genetics)
- Tyrosine
(genetics)
- Young Adult
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