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1,349 Possible Causes for Progressive Dystonia

  • Hallervorden-Spatz Syndrome

    The case of an 11-year-old female with the clinical findings of Hallervorden-Spatz syndrome, including progressive dystonia, dysarthria, disturbances of gait, and retinal[] The most common clinical presentation was limb or cranial onset progressive dystonia.[] Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as well as motor manifestations that include speech difficulties, progressive dystonia, rigidity[]

  • Beta-Propeller Protein-Associated Neurodegeneration

    A female patient presented with significant developmental delay in early childhood and subsequently demonstrated neurodegeneration with progressive dystonia and dementia in[] During adolescence or adulthood, affected individuals experience a relatively sudden onset of progressive dystonia-parkinsonism and cognitive decline.[] The natural history of their disease was remarkably uniform: global developmental delay in childhood and further regression in early adulthood with progressive dystonia, parkinsonism[]

  • Primary Torsion Dystonia

    Seite 76 - Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. ‎[] DYT5 (dopa-responsive dystonia) Hereditary progressive dystonia with marked diurnal fluctuation, or Segawa disease, is an autosomal dominantly inherited dopa-responsive dystonia[] The dystonic posturing then gradually progresses with age to other extremities and trunk muscles by the early teens.[]

  • Biotin-Responsive Basal Ganglia Disease

    […] to severe rigidity, dystonia, paraplegia and death.[] […] to severe rigidity, dystonia, quadriparesis and death if not treated.[] Less frequently, BTBGD presents as chronic or slowly progressive dystonia, seizures, and/or psychomotor delay.[]

  • Neurodegeneration with Brain Iron Accumulation

    Progressive dystonia, Parkinsonism and dementia characterise the syndrome in children.[] Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous condition characterized by progressive dystonia with iron accumulation in the basal ganglia[] dystonia, Parkinsonism, spasticity, optic atrophy, retinal degeneration, neuropsychiatric, or diverse neurologic abnormalities.[]

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    Progressive dystonia, parkinsonism, cognitive decline, and neuropsychiatric symptoms are present in more than half of the patients.[] Background: Mitochondrial-membrane Protein-Associated Neurodegeneration (MPAN) is characterized by progressive dystonia, spasticity, paraparesis or tetraparesis, optic atrophy[] Patients were found to have progressive dementia, spasticity, rigidity, dystonia, and choreoathetosis.[]

  • Neuroferritinopathy

    Neurodegeneration with brain iron accumulation (NBIA) is a group of mainly recessive disorders that present with progressive dystonia and dementia.[] Wikidata Jump to navigation Jump to search Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive[] We report a family in which neuroferritinopathy begins with chronic headaches, later developing progressive orolingual and arm dystonia, dysarthria, cerebellar ataxia, pyramidal[]

  • Scoliosis

    Segawa's syndrome or dopa-responsive dystonia is a rare hereditary disorder characterized by progressive dystonia of childhood onset, diurnal fluctuation of symptoms and complete[]

  • Adult-Onset Cervical Dystonia Type DYT23

    Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia.[] Segawa M, Hosaka A, Miyagawa F et al (1976) Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 14:215–233 PubMed Google Scholar 33.[] Hereditary progressive dystonia with marked diurnal uctuation. Adv Neurol 1976;14:21533. [4] Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, et al.[]

  • X-linked Parkinsonism-Spasticity Syndrome

    XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life.[] , Autosomal Dominant Dystonia, Progressive, With Diurnal Variation Dystonia-Parkinsonism With Diurnal Fluctuation Segawa Syndrome, Autosomal Dominant DRD DYT5 128230 Genetic[] […] parkinsonism syndrome Autosomal Recessive Progressive, generalised, early-onset dystonia with axial muscle involvement, oromandibular (sardonic smile), laryngeal dystonia[]

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