Supported Diseases
Dopa-responsive dystonia
Synonyms:
HPD with diurnal fluctuation, Hereditary progressive dystonia with diurnal fluctuation, DYT-GCH1 (subtype), DYT-TH (subtype), DYT-SPR (subtype)
Dopamine transporter deficiency syndrome
Synonyms:
Parkinsonism-dystonia infantile, Infantile Parkinsonism-dystonia, DTDS, PKDYS, SLC6A3-Related Dopamine Transporter Deficiency Syndrome, DAT Deficiency
Focal task-specific dystonia
Synonyms:
FTSD, Focal dystonia, Focal, segmental or multifocal dystonia, Task-specific dystonia, Focal task specific dystonia, Task-specific focal dystonia
GTPCH1-deficient DRD
Synonyms:
DYT-GCH1, Dopa-responsive dystonia autosomal dominant Segawa syndrome, DOPA-responsive dystonia, with or without hyperphenylalaninemia, GTP cyclohydrolase 1-deficient dopa-responsive dystonia, GTPCH1-deficient dopa-responsive dystonia, DYT/PARK-GCH1
Meige syndrome
Synonyms:
Meige's syndrome, Oral facial dystonia, Brueghel syndrome, Idiopathic blepharospasm-oromandibular dystonia syndrome, Segmental cranial dystonia, Blepharospasm-oromandibular dystonia, Meige dystonia, Blepharospasm - oromandibular dystonia, Blepharospasm-oromandibular dystonia syndrome
Tardive dyskinesia
Synonyms:
Linguofacial dyskinesia, Tardive dystonia, Tardive oral dyskinesia, TD
Tyrosine hydroxylase deficiency
Synonyms:
Parkinsonism, infantile, autosomal recessive, Dystonia, DOPA responsive, autosomal recessive, DOPA responsive dystonia, autosomal recessive, Segawa syndrome, autosomal recessive, DYT/PARK-TH, Tyrosine hydroxylase-deficient dopa-responsive dystonia, DYT5b, TH-deficient DRD