Table 3.
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 |
For most childhood-onset disorders, rare patients may present instead in adulthood.
Some associated clinical features may be attenuated or absent in atypical cases.