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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[ncbi.nlm.nih.gov] The most common clinical presentation was limb or cranial onset progressive dystonia.[ncbi.nlm.nih.gov] Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as well as motor manifestations that include speech difficulties, progressive dystonia, rigidity[ncbi.nlm.nih.gov]

  • 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[ncbi.nlm.nih.gov] During adolescence or adulthood, affected individuals experience a relatively sudden onset of progressive dystonia-parkinsonism and cognitive decline.[nbiadisorders.org] The natural history of their disease was remarkably uniform: global developmental delay in childhood and further regression in early adulthood with progressive dystonia, parkinsonism[neurologiaspedalicivili.blogspot.com]

  • Primary Torsion Dystonia

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

  • Biotin-Responsive Basal Ganglia Disease

    […] to severe rigidity, dystonia, paraplegia and death.[medical-dictionary.thefreedictionary.com] […] to severe rigidity, dystonia, quadriparesis and death if not treated.[treatable-id.org] Less frequently, BTBGD presents as chronic or slowly progressive dystonia, seizures, and/or psychomotor delay.[ncbi.nlm.nih.gov]

  • Neurodegeneration with Brain Iron Accumulation

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

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

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

  • Neuroferritinopathy

    Neurodegeneration with brain iron accumulation (NBIA) is a group of mainly recessive disorders that present with progressive dystonia and dementia.[epilepsygenetics.net] 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[wikidata.org] We report a family in which neuroferritinopathy begins with chronic headaches, later developing progressive orolingual and arm dystonia, dysarthria, cerebellar ataxia, pyramidal[ncbi.nlm.nih.gov]

  • 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[ncbi.nlm.nih.gov]

  • Adult-Onset Cervical Dystonia Type DYT23

    Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia.[malacards.org] 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.[link.springer.com] 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.[docslide.net]

  • 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.[mdpi.com] , Autosomal Dominant Dystonia, Progressive, With Diurnal Variation Dystonia-Parkinsonism With Diurnal Fluctuation Segawa Syndrome, Autosomal Dominant DRD DYT5 128230 Genetic[ukgtn.nhs.uk] […] parkinsonism syndrome Autosomal Recessive Progressive, generalised, early-onset dystonia with axial muscle involvement, oromandibular (sardonic smile), laryngeal dystonia[cmdg.org]

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