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1,716 Possible Causes for Cerebellar Ataxia during Episodes, External Ophthalmoplegia, Interictal Downbeat Nystagmus

  • Cerebellar Ataxia

    ataxia and altered consciousness during febrile illnesses.[ncbi.nlm.nih.gov] Topka, Reversible cerebellar gait ataxia with postural tremor during episodes of high pyrexia, Clinical Neurology and Neurosurgery, 98, 3, (227), (1996). David J.[oadoi.org] Here, we report on a 34-year-old female presenting with a new ATP1A3-related entity involving a relapsing encephalopathy characterized by recurrent episodes of cerebellar[ncbi.nlm.nih.gov]

    Missing: Interictal Downbeat Nystagmus
  • Spinocerebellar Ataxia Type 6

    Initial examination disclosed a central type of positional nystagmus (conjugate downbeat nystagmus that did not fatigue with repeated positioning).[jnnp.bmj.com] ataxia is a dominantly inherited paroxysmal cerebellar neurological disorder characterized by episodes of cerebellar ataxia, often accompanied by nausea, vertigo, and headache[doi.org] Non-cerebellar systems were only mildly affected with external ophthalmoplegia, spasticity, peripheral neuropathy, and parkinsonism.[orbilu.uni.lu]

  • Episodic Ataxia

    AUTOSOMAL dominant episodic ataxias are a clinically and genetically heterogeneous group of conditions characterized by recurrent paroxysmal attacks of cerebellar ataxia starting[doi.org] According to Baloh and others (1997), EA2 is characterized by a progressive ataxia with interictal rebound nystagmus evoked by gaze, as well as downbeating nystagmus.[dizziness-and-balance.com] ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome AD/AR 90 280 PPP2R2B Spinocerebellar ataxia AD 1 5 PRKCG Spinocerebellar ataxia AD[blueprintgenetics.com]

  • Acute Cerebellar Ataxia

    . ; EA2 with interictal nystagmus , is long-lasting (hours) associated with attacks of vertigo, diffuse weakness, slurred speech, dystonia, seizures, truncal and limb ataxia[neuroweb.us] Sixteen months after the recurrence of ataxia, CT and MRI revealed marked cerebellar atrophy.[ncbi.nlm.nih.gov] Additional features are progressive external ophthalmoplegia, progressive sensorineural hearing loss , peripheral neuropathy, foot deformity, basal ganglia calcification,[neuroweb.us]

  • Oculopharyngeal Muscular Dystrophy

    In addition, severe external ophthalmoplegia, dysphonia, and proximal amyotrophy were prominent in this family.[ncbi.nlm.nih.gov] RESULTS: In addition to the characteristic OPMD symptoms including ptosis and dysphagia, other symptoms such as limb girdle and axial weakness, and external ophthalmoplegia[ncbi.nlm.nih.gov] Keywords Muscular Dystrophy Myotonic Dystrophy Inclusion Body Myositis Chronic Progressive External Ophthalmoplegia Levator Palpebrae These keywords were added by machine[link.springer.com]

    Missing: Cerebellar Ataxia during Episodes Interictal Downbeat Nystagmus
  • Bickerstaff Brainstem Encephalitis

    Both patients displayed hypersomnolence and cerebellar-like ataxia in the absence of external ophthalmoplegia and carried high serum titres of IgG anti-GQ1b antibodies, strongly[ncbi.nlm.nih.gov] We describe the case of an 11-year-old boy with encephalopathy, external ophthalmoplegia, brainstem signs, and ataxia with raised titers of anti-GQ1b antibodies.[ncbi.nlm.nih.gov] We herein report a 4-year-old boy with Miller Fisher syndrome (MFS) who presented with transient coma in addition to the typical triad of internal and external ophthalmoplegia[ncbi.nlm.nih.gov]

    Missing: Cerebellar Ataxia during Episodes Interictal Downbeat Nystagmus
  • Biotin-Responsive Basal Ganglia Disease

    Mov Disord2012;27:1295-8.Tabarki et alBilateral External Ophthalmoplegia in Biotin-Responsive Basal Ganglia DiseaseReferences[docslide.com.br] At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with occasional supranuclear facial nerve palsy or external ophthalmoplegia, and[ncbi.nlm.nih.gov] ophthalmoplegia, dysarthria, and dysphagia, which progresses to severe rigidity, dystonia, paraplegia and death, if not treated early with biotin.[newmedicalterms.com]

    Missing: Cerebellar Ataxia during Episodes Interictal Downbeat Nystagmus
  • Congenital Muscular Dystrophy

    ophthalmoplegia. [3], [6], [7], [8] Our patients manifested with generalized hypotonia.[pediatricneurosciences.com] External ophthalmoplegia in neuromuscular disorders: case report and review of the literature. Neuromuscul Disord 1997;7:143-151. [ Links ] 66.[doi.org] In literature, several studies have reported respiratory insufficiency, feeding difficulties, cardiomyopathy, sensory and motor demyelinating neuropathy, seizure, and external[pediatricneurosciences.com]

    Missing: Cerebellar Ataxia during Episodes Interictal Downbeat Nystagmus
  • Familial Visceral Myopathy

    Two of the patients also had ptosis and external ophthalmoplegia. Jejunal manometric studies were performed on the proband's asymptomatic mother and five siblings.[ncbi.nlm.nih.gov] […] muscular dystrophy; Muscular dystrophy, oculogastrointestinal; Intestinal pseudoobstruction with external ophthalmoplegia; Visceral myopathy, familial, with external ophthalmoplegia[rarediseases.info.nih.gov] . , 1983 : A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission .[wwe.geoscience.net]

    Missing: Cerebellar Ataxia during Episodes Interictal Downbeat Nystagmus
  • Miller-Fisher Syndrome

    The clinical presentation, investigation, and subsequent progress of our patient with clinical unilateral external ophthalmoplegia.[ncbi.nlm.nih.gov] Clinical examination revealed complete bilateral external ophthalmoplegia and left-sided ptosis.[ncbi.nlm.nih.gov] Miller-Fisher is a rare syndrome of childhood that presents with external ophthalmoplegia, ataxia, and areflexia.[ncbi.nlm.nih.gov]

    Missing: Cerebellar Ataxia during Episodes Interictal Downbeat Nystagmus

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