Table 2.

Some known inherited causes of dystonia

Amino acid metabolism

glutaric academia

GAMT deficiency

Hartnup disease

homocystinuria

methylmalonic acidemia

propionic acidemia

sulfite oxidase deficiency

Neurotransmitter metabolism

AADC deficiency

dihydropterin reductase deficiency

GTP cyclohydrolase deficiency

PTPS deficiency

tyrosine hydroxylase deficiency

Lipid metabolism/storage

GM1 or GM2 gangliosidosis

Krabbe disease

metachromatic leukodystrophy

neuronal ceroid lipofuscinosis

Niemann-Pick disease, type C

Pelizaeus-Merzbacher disease

Ion/metal homeostasis

aceruloplasminemia

Cav2.1 calcium channel defects

Fahr disease

neuroferritinopathy

rapid-onset dystonia-Parkinsonism

Wilson disease

Polyglutamine expansions

dentato-rubral-pallidoluysian atrophy

Huntington disease

spinocerebellar ataxias (1, 2, 3, 6, 7, 17)

DNA handling/transcription

ataxia-oculomotor apraxia

ataxia telangiectasia

Cockayne syndrome

Lubag

Rett syndrome

xeroderma pigmentosum

Mitochondrial function

deafness-dystonia syndrome

fumarase deficiency

Leber hereditary optic neuropathy

Leigh disease

MELAS

MERRF

pyruvate dehydrogenase deficiency

Other

ataxia with vitamin E deficiency

biotin responsive basal ganglia disease

frontotemporal dementias

Lesch-Nyhan disease

myoclonus dystonia

neuroacanthocytosis

neuronal intranuclear inclusion disease

Oppenheim dystonia

pantothenate kinase neurodegeneration

triosephosphate isomerase

whispering dysphonia

Abbreviations: AADC, aromatic amino acid decarboxylase; Cav2.1, P/Q-type voltage regulated calcium channel; GAMT, guanidinoacetate methyltransferase; GTP, gunosine triphosphate; MELAS, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes; MERRF, mitochondrial encephalopathy with ragged red fibers; PTPS, pyruvoyltetrahydropterin synthase.