Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, ataxia, 'mask-like' facies 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
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: 2010-07-22 

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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