Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency
نویسندگان
چکیده
منابع مشابه
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
The authors report the long-term course of two siblings with L-dopa responsive dystonia (DRD) associated with a compound heterozygous mutation in the tyrosine hydroxylase (TH) gene. Both siblings manifested with lower-limb onset generalized DRD and had a sustained response to low-dose L-dopa therapy for over 35 years. Although the l-dopa therapy was delayed up to 20 years after disease onset, t...
متن کاملDOPA RESPONSIVE DYSTONIA: A CASE REPORT
Dopa responsive dystonia (DRD) is a dystonic syndrome of childhood, usually affecting gait and subsequently developing into parkinsonism with a dramatic therapeutic response to levodopa. At the best of our recollection this is the first case in Iranian medical literature of a 13 year old boy, affected by this interesting, rare and treatable disease which can be easily diagnosed if clinicia...
متن کاملTyrosine hydroxylase and levodopa responsive dystonia.
It has been suggested that a form of inherited dystonia responsive to levodopa might be due to an abnormality of tyrosine hydroxylase gene. This hypothesis has been tested using a cDNA tyrosine hydroxylase gene probe in three families with this disorder. No evidence for genetic linkage between the disease and tyrosine hydroxylase loci was found; it is possible that the disorder results from a p...
متن کاملGTP Cyclohydrolase I and Tyrosine Hydroxylase Gene Mutations in Familial and Sporadic Dopa-Responsive Dystonia Patients
Dopa-responsive dystonia (DRD) is a rare inherited dystonia that responds very well to levodopa treatment. Genetic mutations of GTP cyclohydrolase I (GCH1) or tyrosine hydroxylase (TH) are disease-causing mutations in DRD. To evaluate the genotype-phenotype correlations and diagnostic values of GCH1 and TH mutation screening in DRD patients, we carried out a combined study of familial and spora...
متن کاملDopa responsive dystonia.
There may be insufficient awareness of dopa responsive dystonia (DRD), which has a characteristic diurnal variation of symptoms. Two children are reported in whom the diagnosis of DRD was missed. The first was thought to have hysteria and the second hereditary spastic paraparesis. A full history is vital for the diagnosis of this important treatable syndrome.
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ژورنال
عنوان ژورنال: Medicine
سال: 2020
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000021753