Dopa-responsive dystonia
| Disorder | |
|---|---|
| OMIM #: | #605407 (Click to access OMIM database) |
| Disorder: | Dopa-responsive dystonia |
| Also known as: | SEGAWA SYNDROME, PARKINSONISM, INFANTILE, AUTOSOMAL RECESSIVE, DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL RECESSIVE, DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL RECESSIVE, TYROSINE HYDROXYLASE DEFICIENCY |
| Clinical | |
| Phenotype: | dystonia, hypotonia, hypokinesia, tremors, motor delay, ataxia, mask-like face, ptosis, decreased tyrosine hydroxylase activity |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | TH |
| Base Change: | |
| Amino Acid Change: | thr 494 --> met |
| 2 Old Order Mennonite | |
| Gene: | TH |
| Base Change: | G>A, at nucleotide 698 |
| Amino Acid Change: | arg 233 --> his |
| Last updated: | 2022-11-03 |
| References |
|---|
| Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98. PubMed ID: 18348266 |
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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