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1,435 Possible Causes for External Ophthalmoplegia

  • Congenital Muscular Dystrophy

    Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.[doi.org] External ophthalmoplegia in neuromuscular disorders: case report and review of the literature. Neuromuscul Disord 1997;7:143-151. [ Links ] 66.[doi.org] In two siblings with ptosis, a possibly specific CMD phenotype associating adducted thumbs, external ophthalmoplegia, mental retardation and cerebellar hypoplasia was suggested[doi.org]

  • 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, if not treated early with biotin, progresses to severe rigidity, dystonia, paraplegia and death.[medical-dictionary.thefreedictionary.com]

  • 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]

  • Chronic Progressive External Ophthalmoplegia

    Two cases of chronic progressive external ophthalmoplegia were described.[ncbi.nlm.nih.gov] Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disorder stemming from several genetic mutations.[symptoma.com] external ophthalmoplegia PEO chronic progressive external ophthalmoplegia [Ambiguous] progressive external ophthalmoplegia (disorder) chronic progressive external ophthalmoplegia[wikidata.org]

  • 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]

  • 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]

  • Mitochondrial DNA Deletion Syndrome with Progressive Myopathy

    […] based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6, is also known as progressive external ophthalmoplegia with mitochondrial[malacards.org] Definition A disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on[uniprot.org] Progressive external ophthalmoplegia MedGen UID: 102439 • Concept ID: C0162674 • Disease or Syndrome Progressive external ophthalmoplegia is a condition characterized by weakness[ncbi.nlm.nih.gov]

  • Ophthalmoplegia

    external ophthalmoplegia Bilateral progressive external ophthalmoplegia L progressive external ophthalmoplegia Left progressive external ophthalmoplegia Progressive external[icd9data.com] The prevalence of progressive external ophthalmoplegia is unknown.[ghr.nlm.nih.gov] Tentative Clinical-Genetic Classification of Progressive External Ophthalmoplegia I. Childhood-onset A.[medlink.com]

  • Mitochondrial DNA Depletion Syndrome

    Abstract Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases.[doi.org]

  • Kearns Sayre Syndrome

    Almost total external ophthalmoplegia including involvement of the orbicularis oculi muscles was observed.[ncbi.nlm.nih.gov] , Chronic Progressive External/complications* Ophthalmoplegia, Chronic Progressive External/physiopathology Otoacoustic Emissions, Spontaneous/physiology Prevalence Substance[ncbi.nlm.nih.gov] Abstract Although neuropsychological deficits have been reported in mitochondrial cytopathies, patients with chronic progressive external ophthalmoplegia (CPEO) or Kearns-Sayre[ncbi.nlm.nih.gov]

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