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Dystonia 5

Synonyms
DYT-GCH1; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia; Dystonia, progressive, with diurnal variation; Dystonia-Parkinsonism with diurnal fluctuation; GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms (aggravation of symptoms toward the evening and alleviation of symptoms in the morning after sleep). Initial symptoms are often gait difficulties attributable to flexion-inversion (equinovarus posture) of the foot. Occasionally, initial symptoms are arm dystonia, postural tremor of the hand, or slowness of movements. Brisk deep-tendon reflexes in the legs, ankle clonus, and/or the striatal toe (dystonic extension of the big toe) are present in many affected individuals. In general, gradual progression to generalized dystonia is observed. Intellectual, cerebellar, sensory, and autonomic disturbances generally do not occur.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Yoshiaki Furukawa
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Available tests

63 tests are in the database for this condition.

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Clinical tests (63 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B, GCH1
    Summary: GTP cyclohydrolase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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