Table 3.

Disorders with dystonia that have specific disease-modifying therapies

Disorder	Typical age at onset1	Typical characteristics of dystonia	Other typical clinical features2	Treatment
Abetalipoproteinemia (Bassen-Kornzweig)	childhood to early adulthood	progressive oromandibular or generalized dystonia	ataxia, chorea, retinitis pigmentosa, fat malabsorption	vitamin E, reduced fat diet
Aromatic amino acid decarboxylase deficiency	infancy	generalized dystonia	developmental delay, hypotonia, oculogyric crises, autnomic dysfunction	dopamine agonists, monoamine oxidase inhibitors
Ataxia with vitamin E deficiency	childhood to early adulthood	rare patients present with dystonia instead of ataxia	ataxia, neuropathy	vitamin E
Autoimmune movement disorders	any age	focal or generalized dystonia	systemic signs of autoimmune disease	address autoimmune process
Biotinidase deficiency	infancy	generalized dystonia	developmental delay, encephalopathy, seizures, sensory defects, skin rash	biotin
Cerebral folate deficiency	early childhood to adolescence	progressive dystonia	developmental delay, neuropsychiatric syndromes, seizures	folinic acid
Cerebrotendious xanthomatosis	late childhood to adulthood	oromandibular or limb dystonia	neurocognitive defects, spasticity, myoclonus, tendon xanthomas	chenodeoxycholic acid
Cobalamin deficiencies (inherited subtypes A-G)	infancy	generalized dystonia	developmental delay, ataxia, spasticity, seizures, bone marrow defects	cobalamin derivatives and/or protein restriction
CoEnzyme Q10 deficiency	any age	some cases present with dystonia and ataxia	varied phenotypes, most often progressive ataxia or encephalopathy	coenzyme Q10
Cerebral creatine deficiency type 3	infancy	generalized dystonia	developmental delay, myopathy	creatine
Dopa-responsive dystonia, classic	early childhood to late adulthood	generalized dystonia	Parkinsonism	levodopa
Dopa-responsive dystonia, complicated	infancy to adolescence	generalized dystonia	hypokinetic-rigid syndrome, oculogyric crises, autonomic dysfunction	levodopa, 5-hydroxytryptophan, and/or tetrahydrobiopterin
Dystonia with brain manganese accumulation	childhood	progressive generalized dystonia	Parkinsonism, liver disease, polycythemia	chelation therapy
Galactosemia	childhood to early adulthood	mild focal or generalized dystonia	ataxia, tremor, food intolerance	lactose restriction
GLUT1 deficiency	childhood to adolescence	paroxysmal exertional dystonia	developmental delay, seizures	ketogenic diet
Glutaric aciduria type 1	early childhood to early adulthood	static generalized dystonia following encephalopathic crisis	developmental delay, encephalopathic crisis	avoid or treat aggressively any intercurrent illness, lysine restriction
Homocystinuria	childhood	generalized or paroxysmal dystonia	neurocognitive dysfunction, myopia, ectopic lens	methionine restriction
Guanidinoacetate methyltransferase deficiency	infancy	progressive generalized dystonia	developmental delay, seizures	arginine restriction, creatine and ornithine
Maple syrup urine disease	childhood	focal or paroxysmal dystonia	neonatal encephalopathy, ataxia	leucine restriction ±thiamine
Methylmalonic aciduria	childhood	static generalized dystonia following encephalopathic crisis	developmental delay, encephalopathic crisis, renal insufficiency, pancytopenia	avoid or treat aggressively any intercurrent illness, protein restriction
Molybdenum cofactor deficiency (sulfite oxidase)	adolescence	rare patients present with dystonia and parkinsonism	developmental delay, encephalopathy, seizures	cyclic pyranopterin monophosphate
Niemann Pick type C	early childhood to early adulthood	progressive generalized dystonia	dementia, ataxia, spasticity, seizures, supranuclear gaze palsy	N-butyl-deoxynojirimycin (Miglustat™)
Paraneoplastic movement disorders	any age	rapidly progressive focal or generalized dystonia	malignancy, often occult	address underlying malignancy
Propionic aciduria	early childhood to adolescence	static generalized dystonia following encephalopathic crisis	developmental delay, encephalopathic crisis, optic atrophy, pancytopenia	avoid or treat aggressively any intercurrent illness, protein restriction
Pyruvate dehydrogenase deficiency	infancy	progressive generalized or paroxysmal dystonia	developmental delay, seizures	thiamine, ketogenic diet, dichloroacetate
Rapid onset dystonia-Parkinsonism	early childhood to late adulthood	bulbar or generalized dystonia following encephalopathic crisis	psychomotor disability	avoid or treat aggressively any intercurrent illness, protein restriction
Wilson’s disease	early childhood to late adulthood	progressive generalized dystonia	neurocognitive dysfunction, liver disease, Kayser-Fleischer rings	zinc, tetrathiomolybdenate

¹For most childhood-onset disorders, rare patients may present instead in adulthood.

²Some associated clinical features may be attenuated or absent in atypical cases.