%607488
Table of Contents
Cytogenetic location: 18p11 Genomic coordinates (GRCh38) : 18:1-18,500,000
Grimes et al. (2001) reported a large Canadian kindred in which 12 members over 4 generations had alcohol-responsive myoclonic dystonia characterized mainly by jerky movements of the upper limbs, hands, and axial muscles. Four members also had dystonia of the upper limbs and 1 had dystonia of the leg.
Grimes et al. (2001) excluded mutations in exon 3 of the DRD2 gene (126450) on chromosome 11q23 as the cause of the disorder in their family with myoclonic dystonia. In studies of the same family, Grimes et al. (2002) excluded mutations in the SGCE gene (604149) and found linkage of the disorder to a 17-cM region between D18S1132 and D18S843 on chromosome 18p11. Two unaffected obligate carriers and all affected members carried the same haplotype. Five other unaffected members also carried at least part of the haplotype, suggesting reduced penetrance of the disorder in this family. Grimes et al. (2002) noted that a form of focal dystonia (DYT7; 602124) also maps to 18p.
Grimes, D. A., Bulman, D., St. George-Hyslop, P., Lang, A. E. Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity. Mov. Disord. 16: 106-110, 2001. [PubMed: 11215567, related citations] [Full Text]
Grimes, D. A., Han, F., Lang, A. E., St. George-Hyslop, P., Racacho, L., Bulman, D. E. A novel locus for inherited myoclonus-dystonia on 18p11. Neurology 59: 1183-1186, 2002. [PubMed: 12391345, related citations] [Full Text]
ORPHA: 210566; DO: 0090035;
Cytogenetic location: 18p11 Genomic coordinates (GRCh38) : 18:1-18,500,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 18p11 | Dystonia-15, myoclonic | 607488 | Autosomal dominant | 2 |
Grimes et al. (2001) reported a large Canadian kindred in which 12 members over 4 generations had alcohol-responsive myoclonic dystonia characterized mainly by jerky movements of the upper limbs, hands, and axial muscles. Four members also had dystonia of the upper limbs and 1 had dystonia of the leg.
Grimes et al. (2001) excluded mutations in exon 3 of the DRD2 gene (126450) on chromosome 11q23 as the cause of the disorder in their family with myoclonic dystonia. In studies of the same family, Grimes et al. (2002) excluded mutations in the SGCE gene (604149) and found linkage of the disorder to a 17-cM region between D18S1132 and D18S843 on chromosome 18p11. Two unaffected obligate carriers and all affected members carried the same haplotype. Five other unaffected members also carried at least part of the haplotype, suggesting reduced penetrance of the disorder in this family. Grimes et al. (2002) noted that a form of focal dystonia (DYT7; 602124) also maps to 18p.
Grimes, D. A., Bulman, D., St. George-Hyslop, P., Lang, A. E. Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity. Mov. Disord. 16: 106-110, 2001. [PubMed: 11215567] [Full Text: https://doi.org/10.1002/1531-8257(200101)16:1<106::aid-mds1022>3.0.co;2-7]
Grimes, D. A., Han, F., Lang, A. E., St. George-Hyslop, P., Racacho, L., Bulman, D. E. A novel locus for inherited myoclonus-dystonia on 18p11. Neurology 59: 1183-1186, 2002. [PubMed: 12391345] [Full Text: https://doi.org/10.1212/wnl.59.8.1183]
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