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530 Possible Causes for Generalized Dystonia, Mild Ataxia

  • Paroxysmal Exertion-Induced Dyskinesia

    ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014;82(12):1065-7.[books.google.com] Brisk, deep tendon reflexes, developmental delay and intellectual disability (most frequently mild) may also be observed.[orpha.net] Dystonia Dystonia that occurs at rest may persist as the kinetic (clonic) form. Dystonias can be either focal or generalized.[encyclopedia.com]

  • Adult-Onset Cervical Dystonia Type DYT23

    DYT1 dystonia typically presents as early onset, generalized dystonia, starting in the legs.[neupsykey.com] This condition has a strong association with epilepsy, mostly absence seizures, as well as ataxia, mild cognitive impairment, hemolytic anemia, reticulocytosis and hypoglycorrhachia[docplayer.net] One family member, II-1,had additional neurological signs on examination: he exhibitedmild truncal ataxia, dysarthria, and mild cognitive impairment,all dating fromanepisodeofWernicke-Korsakoffs[docslide.us]

  • Writer's Cramp

    Two cases are reported in which simple writer's cramp turned into dystonic writer's cramp without progression to generalized dystonia.[ncbi.nlm.nih.gov] Ataxia can affect either the trunk or limbs [ 2 ], and mild myoclonus in the upper extremity has been reported in one patient [ 2 ].[clinicalmovementdisorders.biomedcentral.com] SIGNIFICANCE: Our findings may suggest pathophysiological differences between focal and generalized dystonia, and may also point to an inferior sensitivity of SEPs in detecting[ncbi.nlm.nih.gov]

  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    dystonia with marked diurnal fluctuation.[ncbi.nlm.nih.gov] […] neonatal-infantile seizures Benign hereditary chorea Benign infantile focal epilepsy with midline spikes and waves during sleep Benign infantile seizures associated with mild[se-atlas.de] 6-pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.[uniprot.org]

  • Biotin-Responsive Basal Ganglia Disease

    Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the caudate and putamen. Clinical and radiologic findings.[ncbi.nlm.nih.gov] […] triggered by febrile illness 18/18 (100%) Seizure 13/18 (72%) Mild-moderate neurological deficit mainly speech and motor 6/18 (33%) Normal 6/18 (33%) Spastic quadriplegic[ojrd.biomedcentral.com] Reversible generalized dystonia and en-cephalopathy from thiamine transporter 2 deficiency.[docslide.com.br]

  • Hallervorden-Spatz Syndrome

    Generalized dystonia is one of the most disabling movement disorders.[ncbi.nlm.nih.gov] The mother also had mild ataxia and dystonia. Both the mother and the uncle refused hospitalization for a full medical evaluation.[ajnr.org] In addition, ceruloplasmin ferroxidase activity is completely lacking. 4 Neurological symptoms include ataxia, dementia, and involuntary movements, thus reflecting the sites[appliedradiology.com]

  • Neurodegeneration with Brain Iron Accumulation

    […] as great as the benefit reported in patients with primary generalized dystonias or some other secondary dystonias.[ncbi.nlm.nih.gov] , dysarthria, spastic quadriparesis, nystagmus, visual loss, no or mild cognitive impairment and seizures in late stages; overlaps with some HSP syndromes and phenotypes of[ojrd.biomedcentral.com] CONCLUSIONS: MPAN is characterized by a juvenile-onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment[ncbi.nlm.nih.gov]

  • X-linked Parkinsonism-Spasticity Syndrome

    , segmental region in upper limbs; mild course DYT-14 14q13 Dopa Responsive generalized dystonia Autosomal Dominant Early onset, leading to gait and postural abnormalities[cmdg.org] ataxia.[neurology.org] […] symptoms, mild ataxia in the upper limbs, and mild distal muscle wasting. 9 15-18 This more inclusive approach seems to be validated by the multisystem involvement suggested[jnnp.bmj.com]

  • GM2-Gangliosidosis

    A 9-year-old boy showed a progressive generalized dystonia, with onset at the age of 4 years, combined with mental deterioration and behavioral disturbances.[ncbi.nlm.nih.gov] Specific mutations may cause abnormalities such as muscle atrophy (beginning distally), pes cavus, foot drop, spasticity, mild ataxia of the limbs and trunk, dystonia, and[emedicine.medscape.com] GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia.[ajnr.org]

  • Bruxism

    Most dystonias are idiopathic and the focal form of dystonia occurs 10 times more often than does the generalized systemic form.[pocketdentistry.com] On admission to our department 3 mo postinjury, his mental status was good and he was able to walk without assistance, but he had mild ataxia.[ncbi.nlm.nih.gov] The prevalence of all forms of idiopathic dystonia ranges between 3 and 30 per 100,000.[pocketdentistry.com]

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