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CAPOS Syndrome

DOA+


Presentation

  • Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes.[ncbi.nlm.nih.gov]
  • Identification and characterization of a novel pedigree with ATP1A3 mutations presenting with CAPOS syndrome and hemiplegic migraine.[ncbi.nlm.nih.gov]
  • Deafness, optic atrophy, and pes cavus were present in all three members of the family evaluated.[ncbi.nlm.nih.gov]
  • We present four patients from the seventh and eighth family identified worldwide, provide a critical review of all patients published thus far, and speculate about the pathophysiologic processes underlying the acute neurological manifestations.[ncbi.nlm.nih.gov]
  • We describe a 12-year-old boy with an unreported clinical presentation associated with a novel missense mutation of the ATP1A3 gene. Footnotes Supplemental data at Neurology.org Author contributions: Dr.[neurology.org]
Fever
  • The symptoms were triggered by fever and varied in severity in family members, exhibiting a chronic progressive course with or without relapses/remissions.[ncbi.nlm.nih.gov]
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms[ncbi.nlm.nih.gov]
  • Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes.[ncbi.nlm.nih.gov]
  • Targeted sequencing of the ATP1A3 gene is recommended in children exhibiting paroxysmal, fever-induced ataxia and in adults with a more or less stationary or slowly progressive cerebellar syndrome since childhood accompanied by mixed combinations of areflexia[ncbi.nlm.nih.gov]
  • This syndrome typically makes its appearance after a fever-related illness with an acute episode of ataxia. The ataxia is generally associated with weakness and encephalitis (inflammation of the brain).[xpertdox.com]
Infertility
  • Baby Mom Child Pregnancy Pregnant Adolescence Miscarriage Sport Infertility 3 years ago By Pediatric Neurology The clinical syndrome of cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) was first described[healthmag.top]
Abrupt Onset of Symptoms
  • In 1996, one single family, a brother and sister and their mother, was described that suffered from an abrupt onset of symptoms, relapsing and partially remitting, that included early-onset cerebellar ataxia following a febrile illness.Other features[rareconnect.org]
Vascular Disease
  • Volume 2 covers tumors, the phacomatoses, and vascular disease. Volume 3 covers degenerative, metabolic, infectious, inflammatory, and demyelinating diseases.[books.google.de]
Progressive Hearing Loss
  • Walsh & Hoyt: Autosomal-Dominant Progressive Optic Atrophy with Progressive Hearing Loss and Ataxia (CAPOS Syndrome) Identifier wh_ch11_p480_2 Title Walsh & Hoyt: Autosomal-Dominant Progressive Optic Atrophy with Progressive Hearing Loss and Ataxia (CAPOS[collections.lib.utah.edu]
Abnormal Eye Movement
  • More variable features include abnormal eye movements, pes cavus, and dysphagia (summary by Demos et al., 2014). (601338) MalaCards based summary : Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss, also known as capos[malacards.org]
  • eye movements (Source: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris. ) Who gets Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy[dovemed.com]
Abnormal Eye Movement
  • More variable features include abnormal eye movements, pes cavus, and dysphagia (summary by Demos et al., 2014). (601338) MalaCards based summary : Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss, also known as capos[malacards.org]
  • eye movements (Source: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris. ) Who gets Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy[dovemed.com]
Muscle Hypotonia
  • hypotonia Ataxia telangiectasia like disorder Ataxia, posterior column, with retinitis pigmentosa Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity[qlinics.com]
High Foot Arch
  • foot arch), optic atrophy & sensorineural hearing loss.[xpertdox.com]
Facial Pain
  • This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease.[books.google.de]
Cerebellar Ataxia
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms[ncbi.nlm.nih.gov]
  • […] syndrome, is related to cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss and 3-methylglutaconic aciduria, type iii, and has symptoms including gait ataxia, hemiparesis and cerebellar ataxia.[malacards.org]
  • This may represent a separate syndrome of early onset cerebellar ataxia with associated features ("cerebellar ataxia plus"), which is likely to either have an autosomal dominant or maternal mitochondrial pattern of inheritance.[ncbi.nlm.nih.gov]
  • […] by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness.[malacards.org]
Areflexia
  • The clinical syndrome of cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) was first described 20 years ago, but it was only recently that whole exome sequencing unveiled the causative mutation in the ATP1A3[ncbi.nlm.nih.gov]
  • CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia.[ncbi.nlm.nih.gov]
  • CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far.[ncbi.nlm.nih.gov]
  • These acute episodes tend to decrease with time, but the neurologic sequelae are permanent and progressive, resulting in gait and limb ataxia and areflexia.[malacards.org]
Areflexia
  • The clinical syndrome of cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) was first described 20 years ago, but it was only recently that whole exome sequencing unveiled the causative mutation in the ATP1A3[ncbi.nlm.nih.gov]
  • CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia.[ncbi.nlm.nih.gov]
  • CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far.[ncbi.nlm.nih.gov]
  • These acute episodes tend to decrease with time, but the neurologic sequelae are permanent and progressive, resulting in gait and limb ataxia and areflexia.[malacards.org]
Gait Ataxia
  • ataxia, hemiparesis and ataxia, truncal.[malacards.org]
  • ataxia, hemiparesis and cerebellar ataxia.[malacards.org]
  • The signs and symptoms of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome may include: Areflexia Blindness Dysarthria Dysmetria Dystonia Episodic generalized hypotonia Gait ataxia Hemiparesis Nystagmus Optic[dovemed.com]
Dysmetria
  • The signs and symptoms of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome may include: Areflexia Blindness Dysarthria Dysmetria Dystonia Episodic generalized hypotonia Gait ataxia Hemiparesis Nystagmus Optic[dovemed.com]
  • There was no parkinsonism or dysmetria. She walked well with good arm swing.[tremorjournal.org]

Treatment

  • Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options.[books.google.de]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • […] conditions have better prognosis than those with severe symptoms and complications Typically, the prognosis may be assessed on a case-by-case basis Additional and Relevant Useful Information for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and[dovemed.com]
  • […] purpose of the registry is to facilitate enrollment of patients to obtain robust natural history data and standardized outcome measures to facilitate consistent collection of longitudinal follow up data in order to better understand the diagnosis and prognosis[ahckids.org]
  • Some individuals may have mild forms of the disorder with a good prognosis, and develop almost normally.[rarediseases.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • (Etiology) The exact cause of development of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome is unknown It is believed to be a genetic disorder that is inherited in an autosomal dominant manner Autosomal[dovemed.com]
  • Farrer posted to no-tag by zivganor on 2017-08-05 11:52:39 Abstract Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity.[citeulike.org]

Epidemiology

  • Relevant External Links for ATP1A3 Genetic Association Database (GAD) ATP1A3 Human Genome Epidemiology (HuGE) Navigator ATP1A3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ATP1A3 No data available for Genatlas for ATP1A3 Gene The phenotypic[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • We present four patients from the seventh and eighth family identified worldwide, provide a critical review of all patients published thus far, and speculate about the pathophysiologic processes underlying the acute neurological manifestations.[ncbi.nlm.nih.gov]
  • We here present four patients from the seventh and eighth family identified worldwide, provide a critical review of all cases published thus far, and speculate about the pathophysiological processes underlying the acute neurological manifestations.[healthmag.top]
  • Extensive neurological investigations have been normal, and the aetiology and pathophysiology of this disorder remain unclear.[ncbi.nlm.nih.gov]

Prevention

  • Prophylactic administration of acetazolamide or flunarizine may prevent acute episodes of ataxia or mitigate neurologic symptoms, although their efficacies have not been well studied.[ncbi.nlm.nih.gov]
  • Similar to some other types of episodic ataxia, acetazolamide may be considered in patients with CAPOS syndrome to prevent or attenuate bouts of ataxia, but this requires further study.[ncbi.nlm.nih.gov]
  • Screening and prevention of colorectal cancer Source: Finnish Medical Society Duodecim This article is freely available only to users in the UK.[evidence.nhs.uk]
  • Prevention and risk reduction are important and the identification of specific biomarkers for early diagnosis of HCC represents an active field of research.[iemest.eu]

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