Treatable genetic causes of adult-onset dystonia

Disorder	Gene(s)	Diagnostic tests	Treatment
Dopa-responsive dystonia, classic	GCH1	Levodopa challenge CSF pterins and biogenic amines Genetic testing	Levodopa
Dopa-responsive dystonia, complex	TH, PTPS, SPR	Levodopa challenge CSF HVA, 5-HIAA, and sepiapterin Genetic testing	Levodopa, 5-hydroxytryptophan, or tetrahydrobiopterin
Dystonia with brain manganese deposition	SLC30A10, SLC9A14	Serum manganese and iron Peripheral blood smear Genetic testing	Chelation therapy
Glucose transporter type 1 deficiency	SLC2A1	Serum and CSF glucose Genetic testing	Ketogenic diet or triheptanoin
Rapid-onset dystonia-parkinsonism	ATP1A3	CSF HVA	Avoid or treat intercurrent illness to prevent encephalopathic crises
Wilson disease	ATP7B	Slit lamp examination Plasma copper and ceruloplasmin 24-hour urine copper	Zinc or tetrathiomolybdate
ADCY5-related dyskinesia	ADCY5	Genetic testing	Caffeine

CSF: cerebrospinal fluid; HVA: homovanillic acid; 5-HIAA: 5-hydroxyindoleacetic acid.

Adapted from: van Egmond ME, Lagrand TJ, Lizaitene G, et al. A novel diagnostic approach to patients with adult-onset dystonia. J Neurol Neurosurg Psychiatry 2022; 93:1039.

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Treatable genetic causes of adult-onset dystonia