Secondary dystonias
| Non-degenerative combined dystonia syndromes |
|---|
| > Dopa-responsive dystonia: results from genetic defects in enzymes that are involved in the biosynthesis of dopamine; the most common condition is autosomal dominant GTP cyclohydrolase 1 deficiency (Segawa disease) |
| > Rapid onset dystonia-parkinsonism ( ATP1A3 gene mutations) |
| > Myoclonus-dystonia: most common cause is SGCE gene mutations |
| Dystonia associated with neurodegenerative disorders |
| > Autosomal dominant |
| • Huntington disease |
| • Machado-Joseph disease (SCA3) |
| • Basal ganglia calcifications syndromes |
| • SCAs |
| • Neuroferritinopathy |
| > Autosomal recessive |
| • Juvenile Parkinson’s disease |
| • Wilson’s disease |
| • Neuroacanthocytosis syndromes |
| • Hallervorden-Spatz disease |
| • Neurodegeneration with brain iron accumulation syndromes (pantothenate kinase associated neurodegeneration, PLA2G6 associated neurodegeneration, Kufor Rakeb syndrome, MPAN, BPAN, aceruloplasminemia) |
| • Lysosomal storage disorders |
| • Ataxia-Telangiectasia |
| • Homocystinuria |
| > Recessive X-linked |
| • Lubag disease |
| • Lesh-Nyhan syndrome |
| • Rett syndrome |
| > Mitochondrial disorders |
| • Leber disease |
| • MELAS |
| • MERRF |
| • Leigh’s disease |
| > Parkinsonian syndromes |
| • Parkinson’s disease |
| • Progressive Supranuclear Palsy |
| • Cortico-basal syndrome |
| • Multiple system atrophy |
| Dystonia associated with acquired causes |
| > Medications |
| • Dopaminergic (L-dopa, dopamine agonists), dopamine receptor blocking drugs (neuroleptics, prochlorperazine, metoclopramide), selective serotonin reuptake inhibitors, MAO inhibitors, antiepileptic drugs, ergots, flecainide, cocaine, ranitidine, calcium antagonists, anaesthetic agents. |
| > Toxins |
| • Manganese, carbon monoxide, carbon disulfide, cyanide, methanol, disulfiram |
| > Infectious, post-infectious and inflammatory diseases |
| • Subacute sclerosing panencephalopathy, Reye’s syndrome, viral encephalitis, Creutzfeld-Jakob disease, systemic lupus erythematosus, Antiphospholipid syndrome, Sjogren’s syndrome. |
| > CNS lesion |
| • Brain tumour, Stroke, Hypoxia, Intracranial haemorrhage, CNS trauma, congenital malformations, cervical cord lesions. |
| > Perinatal cerebral injury |
| • Cerebral palsy, delayed-onset dystonia, perinatal hypoxia, kernicterus. |
| Functional dystonia |
BPAN = beta-propeller protein-associated neurodegeneration; CNS = central nervous system; GTP = guanosine triphosphate; MAO = monoamine oxydase; MELAS = mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF = myoclonic epilepsy with ragged red fibers; MPAN = mitochondrial membrane protein-associated neurodegeneration; SCAs = spinocerebellar ataxias.