Diagnosis of secondary dystonia

Diagnosis of secondary dystonia

What features suggest the diagnosis of secondary dystonia? 

Secondary forms of dystonia, which account for 25% of cases, are suspected in patients with a history of head trauma, peripheral trauma, encephalitis, toxin exposure, drug exposure, perinatal anoxia, kernicterus, and seizures.

Abnormal findings such as dementia, ocular motility abnormalities, ataxia, spasticity, weakness, or amyotrophy are often present in patients with secondary dystonia.

Furthermore, onset of dystonia at rest instead of with action, early onset of speech involvement, hemidystonia, abnormal laboratory tests, and abnormal brain imaging suggest the diagnosis of secondary dystonia.

The list of causes of secondary dystonia is long, but it is important to try to identify those that are potentially treatable, especially Wilson’s disease and tardive dystonia 

Causes of Secondary Dystonia

Metabolic DisordersMiscellaneous
Aminoacid disordersArteriovenous malformation
Glutaric aciduriaAtlantoaxial dislocation or subluxation
Hartnup’s diseaseBrain tumor
HomocystinuriaCerebellar ectopia and syringomyelia
Methylmalonic acidemiaCentral pontine myelinolysis
TyrosinosisCerebral vascular or ischemic injury
Lipid disordersDrugs
Ceroid lipofuscinosisAnticonvulsants
Metachromatic leukodystrophyErgot
Miscellaneous metabolic disordersFenfluramine
Leber’s diseaseLevodopa
Leigh’s diseaseMetoclopramide
Lesch–Nyhan syndromeHead trauma
Mitochondrial encephalopathiesInfection
Triosephosphate isomerase deficiencyAcute infectious torticollis
Vitamin E deficiencyAIDS
Neurodegenerative disordersCreutzfeldt–Jakob disease
Ataxia telangiectasiaEncephalitis lethargica
Azorean heredoataxiaReye’s syndrome
Machado–Joseph diseaseSubacute sclerosing panencephalitis
Familial basal ganglia calcificationsSyphilis
Huntington’s diseaseParaneoplastic brain stem encephalitis
Infantile bilateral striatal necrosisPerinatal cerebral injury and kernicterus
Intraneuronal inclusion diseasePeripheral trauma
Multiple sclerosisPlagiocephaly
NeuroacanthocytosisPsychogenic dystonia
Parkinson’s diseaseToxins
Progressive pallidal degenerationCarbon monoxide
Progressive supranuclear palsyCarbon disulfide
Rett syndromeMethane
Wilson’s diseaseWasp sting

NIBA , Neurodegeneration with brain iron accumulation.


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