Table 3.

Inherited dystonias with specific treatments

Treatment strategy	Disorders
Removal of a toxic substance	cerebrotendinous xanthomatosis manganese transporter deficiencies Niemann-Pick type C Wilson’s disease
Vitamins and/or cofactors	abetalipoproteinemia ataxia with vitamin E deficiency biotin-thiamin responsive basal ganglia disease cerebral folate deficiency cobalamin deficiency CoQ10 deficiency Homocystinuria Pyruvate dehydrogenase deficiency
Avoidance of triggers	Alternating hemiplegia of childhood biotin-thiamin responsive basal ganglia disease GLUT1 deficiency glutaric aciduria methylmalonic aciduria Propionic acidemia rapid-onset dystonia-parkinsonism
Specific medications	AADC deficiency dopa-responsive dystonia episodic ataxia type 2 GLUT1 deficiency MOCS1 deficiency paroxysmal kinesigenic dyskinesia
Dietary restrictions	abetalipoproteinemia GLUT1 deficiency homocystinuria maple syrup urine disease methylmalonic aciduria propionic acidemia

Further details regarding these disorders and their specific treatments can be found in a prior comprehensive review.⁵⁰