Most nonsymptomatic heterozygous carriers present with increased AFP serum levels. [ncbi.nlm.nih.gov]

• Disability

  The preservation of lexical-semantic processes confirmed that the reading disability was caused by oculomotor deficits, not cognitive problems. [ncbi.nlm.nih.gov]

  It includes physical therapy for cerebellar ataxia and disabilities resulting from peripheral neuropathy; educational support for reading and writing difficulties, speech therapy for dysarthria and cognitive impairment. [orpha.net]

  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]

• Pain

  Nausea, vomiting Fever, fatigue, weight loss More rarely, Cogan's syndrome can cause enlarged lymph nodes, rash, chest pain, arm pain and shortness of breath. [drugs.com]

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: July 19, 2019 [patientslikeme.com]

  Joint and muscle pains can also be present. Less frequently, the arteritis can involve blood vessels elsewhere in the body, as in the skin, kidneys, nerves, and other tissues and organs. Cogan syndrome can lead to deafness or blindness. [medicinenet.com]

• Inflammation

  The diagnosis of CS requires the presence of eye inflammation and inner ear dysfunction that is not explained by another illness. [vasculitisfoundation.org]

  Cogan syndrome: A rare form of artery inflammation (arteritis) of unknown cause that affects the ear. Cogan syndrome causes problems of hearing and balance and also inflammation of the cornea and often fever, fatigue, and weight loss. [medicinenet.com]

  Cogan's syndrome is a rare, rheumatic disease characterized by inflammation of the ears and eyes. Cogan's syndrome can lead to vision difficulty, hearing loss and dizziness. [drugs.com]

• Lymphadenopathy

  Lymphadenopathy in one patient with atypical Cogan's syndrome. [rheumatology.oxfordjournals.org]

  Computed tomography (CT) of petrous bone was normal; the chest computed tomography finding was negative for any lymphadenopathy or other lesions and the cerebral magnetic resonance imaging (MRI) was normal. [pubs.sciepub.com]

• Nausea

  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]

  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]

  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]

  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]

• Vomiting

  […] 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]

  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]

  She denied any hearing loss, diplopia, fever, cough, rhinorrhea, otorrhea, tinnitus, and vomiting. [webeye.ophth.uiowa.edu]

  Signs of inner ear dysfunction include nausea, vomiting, tinnitus, vertigo, and bilateral hearing loss. Deafness generally progresses rapidly during a 1- to 3-month period. [pubs.sciepub.com]

• Torticollis

  This individual observation underpins what Anheim et al. found on the basis of a larger population, showing that disease progression has an inverse correlation with age of onset and with the occurrence of oculomotor apraxia. 5 Notably, torticollis was [onlinelibrary.wiley.com]

• 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]

  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]

  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]

• Hearing Impairment

  Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23. Eur J Hum Genet. 2000; 8: 986-990 Moreira M.C. Klur S. Watanabe M. Nemeth A.H. [jns-journal.com]

  Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 2000;8 (12) 986- 990 PubMed Google Scholar Crossref 7. [jamanetwork.com]

  Bomont P, Watanabe M, Gersoni-Barush R, et al. : Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 2000, 8 :986–990. [link.springer.com]

  Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23. Eur J Hum Genet 2000 ; 8 : 986 –90. Cogan DG. [academic.oup.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]

  Interstitial keratitis is rarely asymptomatic, and most of the patients present with eye redness, photophobia or eye pain [ 2, 3 ]. [rheumatology.oxfordjournals.org]

• 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]

  Symptoms include pain, tearing, photophobia, gradual blurring of vision. [webeye.ophth.uiowa.edu]

• Visual Impairment

  Significant visual impairment may result from posterior scleritis and/or retinitis; therefore, if either is detected, emergent treatment is necessary (Gonclaves et al, 2004). [webeye.ophth.uiowa.edu]

  Most children (15 of 21 cases) presented with visual problems already in the first months of life, before OMA was definitely diagnosed, occasionally giving rise to the concern of severe visual impairment or even blindness. [ojrd.biomedcentral.com]

• Anterior Uveitis

  Anterior ocular inflammation, such as IK, anterior uveitis, scleritis, and episcleritis, usually responds to topical corticosteroids [ 11 ]. [hindawi.com]

• Apraxia

  Oculomotor apraxia may also be seen in ataxia-telangiectasia ( 208900 ), ataxia with oculomotor apraxia 1 ( 208920 ), ataxia with oculomotor apraxia 2 ( 602600 ) and in Gaucher disease ( 203800 ). It may be the presenting sign in the latter disease. [disorders.eyes.arizona.edu]

  Home Science NGS Panel – Genetic Testing for Oculomotor Apraxia Oculomotor apraxia, Ataxia oculomotor apraxia, AOA Inheritance pattern Autosomal recessive Ataxia with oculomotor apraxia (AOA) is a rare inherited disease characterized by childhood onset [centogene.com]

  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]

• Ataxia

  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]

  […] deficiency Spinocerebellar ataxia type 2 (SCA2) Spinocerebellar ataxia with axonal neuropathy (SCAN1) Ataxia-telangiectasia. [centogene.com]

• Nystagmus

  The PPRF can be excluded as the site of the lesion, since vestibular stimuli elicit fast phases of nystagmus in such patients. Gaze-Evoked Nystagmus Definition Gaze-evoked nystagmus is the result of a gaze-holding deficit. [clicktocurecancer.info]

  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]

• 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]

• Headache

  […] coronary and iliac arteritis 27 Mouth ulcers, hepatic steatosis 28 Arthritis, myalgias, pericarditis, abdominal pain, oesophagitis, meningitis, peripheral neuropathy, glomerulonephritis 29 Headache 30 Headache 31 Headache, meningitis, encephalitis, chondritis [rheumatology.oxfordjournals.org]

  More than half had nervous system involvement, including electroencephalographic or spinal fluid abnormality, headache, psychosis, coma, convulsion, neuropathy, and stroke. [neurology.org]

  Common systemic symptoms include headache, arthralgia/arthritis, myalgia, fever, and fatigue. The most characteristic cardiovascular manifestation is aortitis 4. [radiopaedia.org]

  A 23-year-old male presented with symptoms of headache, peripheral facial palsy, persistent right hearing loss and bilateral papillitis. Workup excluded all infectious, granulomatous, neoplastic, and immune causes. [hindawi.com]

We report a case of an atypical Cogan’s syndrome, the workup of the diagnosis, and treatment results. 2. [hindawi.com]

Only when drug effects have been ruled out should the workup proceed in a search for disease in the cerebellum and/or brainstem. Endpoint nystagmus refers to a minor gaze-holding deficit that should not be regarded as clinically important. [clicktocurecancer.info]

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]

We report a case of a atypical Cogan’s syndrome, the workup of the diagnosis, and treatment results. 2. [pubs.sciepub.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]

• Thrombocytosis

  Weight loss, cardiovascular and abdominal manifestations, increased ESR, anaemia, leucocytosis and thrombocytosis appeared to be significantly associated with unfavourable prognosis. [rheumatology.oxfordjournals.org]

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]

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]

Management and treatment No specific treatment exists for AOA1 and management is mainly supportive. [orpha.net]

The prognosis, level of disability, cancer and immunosuppression risk all markedly differ between the conditions. [ncbi.nlm.nih.gov]

Immunological tests can help to establish the diagnosis and the prognosis for the recovery of hearing. [pmj.bmj.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. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]

The diagnostic exams are mostly important to exclude other etiologies. [hindawi.com]

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]

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]

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]

An epidemiological study was conducted on 72 Italian AT families from the Italian Registry for Ataxia Telangiectasia applying the Dahlberg’s formula. [raredisorders.imedpub.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]

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]

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]

Prevention of secondary complications: high-protein diet to prevent edema by restoring serum albumin concentration; low-cholesterol diet. Surveillance: routine follow-up with a neurologist. [lacaf.org]

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]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

Prevention There is no way to prevent Cogan's syndrome. Treatment Mild eye disease may be treated with anti-inflammatory medications, including steroids and NSAIDs that are applied to the eye. [drugs.com]

Prevention - Apraxia- oculomotor- Cogan type Not supplied. Diagnosis - Apraxia- oculomotor- Cogan type Not supplied. Prognosis - Apraxia- oculomotor- Cogan type Not supplied. [checkorphan.org]