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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