Dopa-Responsive Dystonia

Known as: SEGAWA SYNDROME, AUTOSOMAL DOMINANT, DYSTONIA 5, DYSTONIA, DOPA-RESPONSIVE 
A genetic disorder in females that presents in early childhood and is responsive to dopamine. It is characterized by clubfeet and Parkinsonian… (More)
National Institutes of Health

Papers overview

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2005
2005
Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic and sustained… (More)
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Review
1999
Review
1999
The causative genes of two types of hereditary dopa-responsive dystonia (DRD) due to dopamine (DA) deficiency in the… (More)
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1998
1998
We have studied the GTP-cyclohydrolase 1 (GCH-1) gene in 30 patients with the diagnosis of clinically definite (n = 20) or… (More)
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1995
1995
There may be insufficient awareness of dopa responsive dystonia (DRD), which has a characteristic diurnal variation of symptoms… (More)
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Highly Cited
1995
Highly Cited
1995
Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-DOPA), the rate-limiting step in… (More)
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Highly Cited
1994
Highly Cited
1994
Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with… (More)
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1993
1993
Dopa–responsive dystonia (DRD) is an autosomal–dominant neurological disorder which appears to result from a genetically… (More)
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Highly Cited
1991
Highly Cited
1991
We report observations on the treatment of 66 patients with presumed dopa-responsive dystonia (DRD). Forty-seven of these… (More)
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Review
1988
Review
1988
DRD is a distinctive clinical entity and an unexpectedly common subgroup of torsion dystonia. Diurnal fluctuation is often but… (More)
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Review
1976
Review
1976
Hereditary progressive dystonia with marked diurnal fluctuation or the strictly defined dopa-responsive dystonia (HPD/DRD) is an… (More)
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