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Neurological and metabolic disorders

Neurological and metabolic disorders

Neurological and Metabolic Disorders


Dystonia can occur as part of many disorders and conditions. Research is ongoing and this list should not be considered comprehensive.


Cerebrovascular or ischemic injury (stroke)

Arteriovenous malformation

Perinatal cerebral injury

Viral encephalitis

Subacute sclerosing panencephalitis




Huntington’s disease

Parkinson’s disease

Spinocerebellar ataxias

HARP syndrome  (Hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration)

Familial frontotemporal dementias

Familial basal ganglia calcifications

Wilson’s disease

Juvenile parkinsonism

Neurodegeneration with brain iron accumulation type 1


Triosephosphate  isomerase deficiency

Vitamin E deficiency

Biopterin  deficiency


Niemann-Pick disease type C and D

Ceroid lipofuscinosis


Hartnup disease

Methylmalonic aciduna


Lesch-Nyhan syndrome

Rett’s syndrome

Pelizaeus -Merzbacher disease

Dystonia-deafness syndrome

MERRF (myoclonus, epilepsy associated with ragged-red fibers)

MELAS (myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke)

Leber’s disease

Leigh’s syndrome


Neuronal intranuclear inclusion disease


Progressive supranuclear palsy

Multiple system atrophy

Corticobasal ganglionic degeneration

Dentatorubropalidoluysian atrophy

Glutaric academia

Methylmalonic academia


Metachromatic leukodystrophy

Neuronal ceroid lipofuscinosis

Primary antiphospholipid antobidy syndrome


Hallervorden-Spatz disease

Multiple sclerosis

Atlantoaxial sublaxation



The following disorders and conditions are generally considered to resemble dystonia but thought to have a distinct underlying cause.


Dytstonic (tonic) tics

Head tilt (vestibulopathy, trochlear nerve palsy)

Bent spine, camptocormia, scoliosis

Atlanto axial and shoulder subluxation

Arnold-Chiari malformation

Soft tissue neck mass

Cogentital muscular torticollis

Kippel-Feil syndrome

Satoyoshi syndrome

Dupuytren’s contractures

Trigger digits

Neuromuscular causes (Isaacs syndrome, etc.)

Spasms (hypocalcemia, hypomagnesemia, alkalosis)

Orthopaedic and rheumatological causes

Sandifer syndrome

Deafferentiation (pseudoathetosis)


To locate information about these diseases and conditions, the following resource may be helpful

National Institutes of Health


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