Neurological and Metabolic Disorders

Dystonia can occur as a 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
AIDS
Creutzfeldt-Jakob disease
Kernicterus
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
Ataxia-telangiectasia
Triosephosphate isomerase deficiency
Vitamin E deficiency
Biopterin deficiency
Sphingolipidoses
Niemann-Pick disease type C and D
Ceroid lipofuscinosis
Homocystinuria
Hartnup disease
Methylmalonic aciduria
Tyrosinaemia
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
Neuroacanthocytosis
Neuronal intranuclear inclusion disease
Haemochromatosis
Progressive supranuclear palsy
Multiple system atrophy
Corticobasal ganglionic degeneration
Dentatorubropalidoluysian atrophy
Glutaric academia
Methylmalonic academia
Homocystinuria
Metachromatic leukodystrophy
Neuronal ceroid lipofuscinosis
Primary antiphospholipid antobidy syndrome
Gangliosidoses
Hallervorden-Spatz disease
Multiple sclerosis
Atlantoaxial sublaxation
Syringomyelia

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

Dystonic (tonic) tics
Head tilt (vestibulopathy, trochlear nerve palsy)
Bent spine, camptocormia, scoliosis
Atlanto axial and shoulder subluxation
Arnold-Chiari malformation
Soft tissue neck mass
Congenital muscular torticollis
Klippel-Feil syndrome
Satoyoshi syndrome
Dupuytren’s contractures
Trigger digits
Neuromuscular causes (Isaacs syndrome, etc.)
Spasms (hypocalcemia, hypomagnesemia, alkalosis)
Orthopedic 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
http://health.nih.gov

 

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The Dystonia Medical Research Foundation (DMRF) has served the dystonia community since 1976. Join us in our global effort to find a cure.