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Oculomotor Apraxia

Oculovestibuloauditory Syndr


Presentation

  • Most nonsymptomatic heterozygous carriers present with increased AFP serum levels.[ncbi.nlm.nih.gov]
  • We present 2 sisters, 6 1/2 and 5 1/2 years of age, in whom the presenting sign was oculomotor apraxia. Oculomotor apraxia has not been previously reported as the presenting manifestation of Gaucher disease.[ncbi.nlm.nih.gov]
  • Genetic analysis may be of help to diagnose cases with unusual neuromuscular characteristics, like the one presented here. Copyright 2010. Published by Elsevier B.V.[ncbi.nlm.nih.gov]
  • We describe a patient presenting with early-onset progressive ataxia, oculomotor apraxia, axonal sensory-motor neuropathy, optic atrophy, delayed psychomotor development, and a behavior disorder.[ncbi.nlm.nih.gov]
  • CASE PRESENTATION: Our patient has a clinical presentation that is typical for ataxia with oculomotor apraxia type 1 with no particularly severe phenotype.[ncbi.nlm.nih.gov]
Aspiration
  • His leukocyte glucocerebrosidase activity was very low, but the typical Gaucher cell was absent in the sample of bone marrow aspiration.[ncbi.nlm.nih.gov]
Nausea
  • At the age of 7 years, after an acute otitis media with mastoiditis, the girl complained about dizziness without nausea, but with clear ataxia and an oculomotor disorder (having difficulties in looking active at objects).[thieme-connect.com]
  • The administration of a combined immunosuppressive treatment resolved ocular inflammation, dizziness, nausea, and vertigo but gave little results in controlling progressive hearing loss.[ojrd.biomedcentral.com]
  • The most common symptoms include red, painful, light-sensitive or blurred vision ; hearing loss (which may become profound and permanent); vertigo (dizziness); poor balance; nausea and vomiting; fever, fatigue and weight loss.[vasculitis.org.uk]
  • Otorhinolaryngology, b Service of Internal Medicine I, c Service of Ophthalmology, d Service of Pathology Abstract Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of Ménière-like attacks (nausea[pmj.bmj.com]
Vomiting
  • The most common symptoms include red, painful, light-sensitive or blurred vision ; hearing loss (which may become profound and permanent); vertigo (dizziness); poor balance; nausea and vomiting; fever, fatigue and weight loss.[vasculitis.org.uk]
  • […] b Service of Internal Medicine I, c Service of Ophthalmology, d Service of Pathology Abstract Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of Ménière-like attacks (nausea, vomiting[pmj.bmj.com]
  • She denied any hearing loss, diplopia, fever, cough, rhinorrhea, otorrhea, tinnitus, and vomiting.[webeye.ophth.uiowa.edu]
  • The most common symptoms of Cogan's syndrome include: Red, painful, light-sensitive eyes or blurred vision Hearing loss, which may become profound and permanent Vertigo (a sensation of the room spinning; may be called dizziness) Poor balance Nausea, vomiting[drugs.com]
Photophobia
  • Ocular Examination: Moderate photophobia noted during the exam.[webeye.ophth.uiowa.edu]
  • The patient complained redness in the left eye with diplopia, photophobia and developed acute onset of right severe sensorineural hearing loss with tinnitus.[pubs.sciepub.com]
  • Audiovestibular dysfunction in association with nonsyphilitic interstitial keratitis (IK) was classified as a clinical entity by Cogan in 1945. 1 Sudden onset IK is accompanied by photophobia, lacrimation and eye pain, and usually responds to local atropine[pmj.bmj.com]
Blurred Vision
  • The most common symptoms include red, painful, light-sensitive or blurred vision ; hearing loss (which may become profound and permanent); vertigo (dizziness); poor balance; nausea and vomiting; fever, fatigue and weight loss.[vasculitis.org.uk]
  • Symptoms The most common symptoms of Cogan's syndrome include: Red, painful, light-sensitive eyes or blurred vision Hearing loss, which may become profound and permanent Vertigo (a sensation of the room spinning; may be called dizziness) Poor balance[drugs.com]
  • The classic finding is interstitial keratitis, which causes redness, photophobia, pain, and blurred vision. Even though interstitial keratitis is a hallmark finding, it is not essential for diagnosis.[webeye.ophth.uiowa.edu]
Tinnitus
  • The audiovestibular symptoms, tinnitus, sensorineural hearing loss and acute episodes of vertigo, are usually bilateral. Cogan's syndrome is a disorder of young adults, the average age of onset being 25 years.[pmj.bmj.com]
  • She denied any hearing loss, diplopia, fever, cough, rhinorrhea, otorrhea, tinnitus, and vomiting.[webeye.ophth.uiowa.edu]
  • Number of Print Pages: 6 Number of Figures: 0 Number of Tables: 0 ISSN: 1014-8221 (Print) eISSN: 1423-0283 (Online) For additional information: Abstract Das gleichzeitige Auftreten einer nichtsyphilitischen interstitiellen Keratitis mit HÖrverlust, Tinnitus[karger.com]
  • Case Presentation a 25-year-old Italian woman was referred with conjunctival hyperaemia, interstitial keratitis, moderate bilateral sensorineural hearing loss accompanied by tinnitus, dizziness, nausea and vertigo, poorly responsive to oral and topical[ojrd.biomedcentral.com]
Ataxia
  • The features include early childhood onset of ataxia and oculomotor apraxia, mimicking ataxia telangiectasia but without the extraneurologic findings of ataxia telangiectasia.[ncbi.nlm.nih.gov]
  • Included in this group are AT, ataxia-telangiectasia-like disorder (ATLD), ataxia with oculomotor apraxia type 1 (AOA 1), ataxia with oculomotor apraxia type 2 (AOA 2), and the recently described AOA3.[ncbi.nlm.nih.gov]
  • Autosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (ATLD).[ncbi.nlm.nih.gov]
  • Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive motor peripheral neuropathy.[ncbi.nlm.nih.gov]
  • We highlight the importance of considering the diagnosis of AOA1 in children with early-onset cerebellar ataxia, once other well-known disorders such as Friedreich's ataxia and ataxia-telangiectasia have been excluded.[ncbi.nlm.nih.gov]
Nystagmus
  • The reading scan was disturbed by saccadic intrusions and/or nystagmus. However, an ad hoc reading task demonstrated that deficits appeared only when the items that were displayed enhanced oculomotor requests.[ncbi.nlm.nih.gov]
  • Congenital oculomotor apraxia type Cogan II is characterized by impairment of horizontal voluntary eye movements and optokinetic nystagmus. Patients cannot perform horizontal eye movements for ocular fixation of an object.[neocyst.de]
  • The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cranial MRI no diagnosis was reached.[research-information.bristol.ac.uk]
  • Strabismus and nystagmus are present in a significant proportion of patients. Optokinetic nystagmus is impaired.[disorders.eyes.arizona.edu]
  • Almost all patients displayed cerebellar symptoms with downbeat nystagmus (DBN; Video 1 ) and/or gaze-evoked nystagmus (GEN; Video 2 ) or hypermetric horizontal saccades (Video 3 ) (Table 2 ).[nature.com]
Vertigo
  • Vertigo can also be severe. Vasculitis signs and symptoms can be present at presentation or may develop later in the course of the syndrome.[vasculitisfoundation.org]
  • 42-year-old Female with Interstitial Keratitis and Vertigo May 24, 2007, updated Nov 20, 2007 Chief Complaint: Red left eye for the past two months with recent onset of vertigo and otalgia.[webeye.ophth.uiowa.edu]
  • The administration of a combined immunosuppressive treatment resolved ocular inflammation, dizziness, nausea, and vertigo but gave little results in controlling progressive hearing loss.[ojrd.biomedcentral.com]
  • The audiovestibular symptoms, tinnitus, sensorineural hearing loss and acute episodes of vertigo, are usually bilateral. Cogan's syndrome is a disorder of young adults, the average age of onset being 25 years.[pmj.bmj.com]
Dizziness
  • At the age of 7 years, after an acute otitis media with mastoiditis, the girl complained about dizziness without nausea, but with clear ataxia and an oculomotor disorder (having difficulties in looking active at objects).[thieme-connect.com]
  • Does your daughter have abnormal eye movements and dizziness too. How old is she? Im a young adult Hi Regina, my daughter is 27 years old. she was diagnosed about ten years ago.[healthunlocked.com]
  • Cogan's syndrome can lead to vision difficulty, hearing loss and dizziness.[drugs.com]
  • The administration of a combined immunosuppressive treatment resolved ocular inflammation, dizziness, nausea, and vertigo but gave little results in controlling progressive hearing loss.[ojrd.biomedcentral.com]
Neglect
  • We examined a 63-year-old, right-handed woman who developed right hemianopia, oculomotor apraxia, optic ataxia, simultanagnosia, and hemispatial neglect (HSN) for the right after a cerebral infarction, with detailed neuropsychological tests, magnetic[ncbi.nlm.nih.gov]

Workup

  • Discussion During diagnostic workup of autosomal recessive ataxias with oculomotor apraxia and/or sensorimotor neuropathy, the assessment of serum AFP might be useful because, if elevated, it narrows down the differential diagnosis list to AOA2 and ataxia[onlinelibrary.wiley.com]
  • Figure 3 shows the workup leading to AOA1, AOA2 and AT diagnosis in view of the results of our study and previous reports 18. Figure 3 Workup leading to AOA1, AOA2 and AT diagnosis in view of the results of our study and previous reports.[nature.com]
  • We report a case of an atypical Cogan’s syndrome, the workup of the diagnosis, and treatment results. 2.[hindawi.com]
  • We report a case of a atypical Cogan’s syndrome, the workup of the diagnosis, and treatment results. 2.[pubs.sciepub.com]

Treatment

  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
  • Attendance at a regular school is most often possible. treatment No causal treatment available. Symptomatic therapy of ataxia with physiotherapy and treatment of chronic renal failure. sources Betz R, Rensing C, Otto E, et al.[neocyst.de]
  • Treatments Treatment of manifestations: may include physical therapy, particularly for disabilities resulting from peripheral neuropathy; a wheelchair for mobility, usually by age 15-20 years; educational support for difficulties with speaking, reading[lacaf.org]
  • Management and treatment No specific treatment exists for AOA1 and management is mainly supportive.[orpha.net]

Prognosis

  • The prognosis, level of disability, cancer and immunosuppression risk all markedly differ between the conditions.[ncbi.nlm.nih.gov]
  • Our findings suggest the existence of two variants of the syndrome; the one with electroretinogram anomalies has a worse visual prognosis.[ncbi.nlm.nih.gov]
  • Prognosis - Apraxia- oculomotor- Cogan type Not supplied. Treatment - Apraxia- oculomotor- Cogan type Unfortunately, there is no cure for oculomotor apraxia Cogan type and treatment is focused on managing symptoms.[checkorphan.org]
  • Exact pathomechanism not clear. progress and prognosis Jerky movements of the head as well as muscular hypotonia and ataxic gait improve with age. Attendance at a regular school is most often possible. treatment No causal treatment available.[neocyst.de]

Etiology

  • These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms. Copyright 2015 The Authors. Published by Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
  • Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of the many etiologies[books.google.ro]
  • In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A.[books.google.com]
  • These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms.[discovery.ucl.ac.uk]
  • The etiology of oculomotor apraxia is usually not determined and considered idiopathic. However, the condition is sometimes considered secondary and attributed to insults occurring either during the perinatal period or the first 6 months of life.[medigoo.com]

Epidemiology

  • Summary Epidemiology AOA1 represents 3.6% of all ARCA in Portugal; in Japan, AOA1 seems to be the most frequent cause of ARCA.[orpha.net]
  • Summary Epidemiology Ataxia-oculomotor apraxia type 1 (AOA1) represents 3.6% of all autosomal recessive cerebellar ataxia (ARCA) in Portugal; in Japan, AOA1 seems to be the most frequent cause of ARCA.[orpha.net]
  • Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management .[disorders.eyes.arizona.edu]
  • Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.[nature.com]
  • Diagnosis: Cogan's Syndrome EPIDEMIOLOGY Predominantly young to middle aged adults Rare SIGNS Interstitial keratitis (limbal stromal opacity or edema, non-inflammed vascular loops in the mid-stroma) Other inflammation of the eye ( episcleritis, scleritis[webeye.ophth.uiowa.edu]
Sex distribution
Age distribution

Pathophysiology

  • Minagar has significant interest in pathophysiology and neuroimaging features of the inflammatory disease of human central nervous system, in general, and multiple sclerosis, in particular.[books.google.com]
  • Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in different animal models to the clinical features, pathophysiology and treatment of human movement disorders.[books.google.ro]
  • Genome-wide expression and weighted gene co-expression network analysis in these neural progenitors identified both previously reported and novel affected genes and cellular pathways associated with senataxin dysfunction and the pathophysiology of AOA2[nbscience.com]
  • On the other hand, the application of a study protocol including MRI and a series of immunological tests might facilitate the establishment of the prognosis for the auditory injury, opening new lines of research focusing on the pathophysiological mechanisms[pmj.bmj.com]

Prevention

  • Author information 1 Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. 2 Center for Predictive and Preventive Genetics, Institute for Molecular and Cell Biology, University of Porto[ncbi.nlm.nih.gov]
  • Prevention - Apraxia- oculomotor- Cogan type Not supplied. Diagnosis - Apraxia- oculomotor- Cogan type Not supplied. Prognosis - Apraxia- oculomotor- Cogan type Not supplied.[checkorphan.org]
  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • This shortage prevents the efficient repair of DNA damage, which leads to the accumulation of broken DNA strands.[ghr.nlm.nih.gov]

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