Version May 2024
| Isolated dystonias |
| Early-onset generalized isolated dystonia |
| Description: dystonia with focal onset beginning in childhood that often progresses to generalized involvement; cases may be sporadic, familial, genetically defined, or without known cause |
| Early-onset generalized dystonia (DYT-TOR1A) |
| Adolescent-onset dystonia of mixed type (DYT-THAP1) |
| Focal or segmental isolated dystonia with onset in adulthood |
| Description: focal or segmental isolated dystonias usually begin after age 30 years; most are sporadic without identifiable cause, and rarely progress to generalized dystonia, but can extend to contiguous body regions |
| Adult-onset segmental dystonia (DYT-GNAL) |
| Cervical dystonia |
| Blepharospasm |
| Writer's cramp |
| Oromandibular dystonia |
| Laryngeal dystonia (spasmodic dysphonia) |
| Limb dystonia |
| Other syndromes of late adult-onset focal isolated dystonia |
| Combined dystonias |
| Dystonia-parkinsonism |
| Description: disorders that combine dystonia and parkinsonian features, sometimes accompanied by pyramidal tract involvement, and/or nonmotor features, including cognitive decline; many are inherited |
| Dopa-responsive dystonia (DYT-GCH1, DYT-TH, and DYT-SPR) |
| Wilson disease |
| Early-onset parkinsonism (PARK-PARKIN) |
| Early-onset parkinsonism (PARK-PINK1) |
| Early-onset parkinsonism (PARK-DJ1) |
| X-linked dystonia-parkinsonism/Lubag (DYT-TAF1) |
| Rapid-onset dystonia-parkinsonism (DYT-ATP1A3) |
| Neurodegeneration with brain iron accumulation: |
| Pantothenate kinase-associated neurodegeneration (PANK2 gene) |
| Infantile neuroaxonal dystrophy (PLA2G6 gene) |
| Mitochondrial membrane protein-associated neurodegeneration (C19ORF12 gene) |
| Beta-propeller protein-associated neurodegeneration, also known as static encephalopathy of childhood with neurodegeneration in adulthood (WDR45 gene) |
| Fatty acid hydroxylase-associated neurodegeneration (FA2H gene) |
| Kufor-Rakeb syndrome (PARK-ATP13A2) |
| Neuroferritinopathy (FTL gene) |
| Aceruloplasminemia (ceruloplasmin gene) |
| Woodhouse-Sakati syndrome (DCAF17 gene) |
| Myoclonus-dystonia |
| Description: disorders in which there is a combination of dystonia and myoclonus; dystonia may be mild, and myoclonus generally predominates |
| Myoclonus-dystonia (DYT-SGCE) |
| Paroxysmal dyskinesia with dystonia |
| Description: disorders characterized by episodes of spontaneous or induced dyskinesia with dystonia |
| Paroxysmal nonkinesigenic dyskinesia (DYT-MR1) |
| Paroxysmal kinesigenic choreoathetosis (DYT-PRRT2) |
| Paroxysmal exertion-induced dyskinesia (DYT-SLC2A1) |
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