All the patients described to date have presented 1-3 acute episodes. [elsevier.es]

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]

A very rare congenital neurologic syndrome that presents in infancy. CAPOS is an acronym for cerebellar ataxia with areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. Three cases (mother and two children) have been described. [accessanesthesiology.mhmedical.com]

• High Fever

  Around the age of 10 years, she presented another episode of high fever with no apparent focus of infection, associated with muscle weakness and worsening of balance, which prevented her from walking and performing fine motor tasks. [elsevier.es]

• 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]

  At 54 months of age, she had slowly progressive hearing loss. She presented to us at 60 months of age, and at presentation, she could walk without support, converse in two word sentences, dress and undress, and feed herself. [ncbi.nlm.nih.gov]

  At 5 years of age, she developed progressive hearing loss; sural nerve biopsy revealed no abnormalities. [elsevier.es]

• 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]

• Progressive Loss of Vision

  Progressive loss of vision, with poor color discrimination and diminished brightness sensitivity and bilateral optic disc atrophy indicative of optic neuropathy are expected findings (39), and very rarely may be absent (42). [frontiersin.org]

• Muscle Hypotonia

  […] syndrome Multiple mitochondrial dysfunctions syndrome Multisystemic smooth muscle dysfunction syndrome Muscle hypertrophy Muscle-eye-brain disease, POMK related Muscular dystrophy Muscular dystrophy, Becker type Muscular dystrophy, congenital, LMNA related [qlinics.com]

  […] dysfunction syndrome ACTA2 Muscle hypertrophy MSTN Muscle-eye-brain disease, POMK related POMK Muscular dystrophy type 1A LAMA2 Muscular dystrophy type 1C FKRP Muscular dystrophy type 1D LARGE Muscular dystrophy, Becker type DMD Muscular dystrophy, congenital [centogene.com]

• Foot Pain

  BackgroundWe undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS… BACKGROUND Custom foot orthoses are commonly recommended for the treatment of foot pain. [semanticscholar.org]

• Areflexia

  Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome. [en.wikipedia.org]

  National Center for Advancing Translational Sciences Home Browse by Disease Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss Other [rarediseases.info.nih.gov]

  Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. [jmg.bmj.com]

  CAPOS is an acronym that stands for Cerebellar ataxia with Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss. [accessanesthesiology.mhmedical.com]

• Dysmetria

  […] mild hypotonia predominantly in the upper limbs and paresis (4+/5) of the shoulder girdles and hips, universal areflexia, extensor plantar reflex in the right foot and slightly extensor plantar reflex in the left, mild-to-moderate upper- and lower-limb dysmetria [elsevier.es]

  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]

  He walks unaided but has mild dysmetria and ataxic gait, areflexia and pes cavus. He was treated for Wolff-Parkinson-White syndrome at age 24 years. [ojrd.biomedcentral.com]

• Hyporeflexia

  Other symptoms that occur during the episodic ataxia includes hypotonia, nystagmus, strabismus, dysarthria, dysphagia, areflexia/hyporeflexia, and temporary deafness. [en.wikipedia.org]

  Other clinical features during an episode may include muscular hypotonia, nystagmus, strabismus, problems with speech (dysarthria), dysphagia (difficulty swallowing), hyporeflexia, areflexia, and hearing loss. [xpertdox.com]

  […] been reported in RDP, including prominent lower limb dystonia, late age of onset (>50 years of age) (18); dystonia without signs of parkinsonism, typical writer's cramp (12); pyramidal signs (p.Glu277Lys) (21); Myoclonus, ataxia, chorea (22, 23); and hyporeflexia [frontiersin.org]

• Scanning Speech

  On cerebellar examination, she had gait incoordination (gait ataxia), truncal hypotonia, intentional tremors, positive finger nose test, dysdiadokokinesia, and incoordinated slurred speech (scanning speech). She did not have pes cavus. [ncbi.nlm.nih.gov]

• Generalized Tonic-Clonic Seizure

  Generalized tonic-clonic seizures seen in the index child have not been reported. Sensorineural hearing loss and optic atrophy may appear at the onset of symptoms or later. [ncbi.nlm.nih.gov]

Usual onset During a fever Duration Lifelong Types It is a type of ATP1A3-related disorder Causes Genetic mutation Prevention None Treatment Symptom-centred Prognosis Medium (with treatment), bad (without treatment Frequency rare, only 14 cases have been [en.wikipedia.org]

Treatment Treatment Options: No treatment is known for this condition but physical therapy and mobility-assistive devices may be helpful. Low vision aids may be useful as well. [disorders.eyes.arizona.edu]

A new surgical approach to the treatment of pes cavus is suggested. The operation consists in a subcutaneous division of the… [semanticscholar.org]

There is no specific treatment for CAPOS/CAOS syndrome. We suggest using acetazolamide, mainly to prevent or reduce neurological symptoms during acute episodes of fever. [elsevier.es]

[…] 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]

Usual onset During a fever Duration Lifelong Types It is a type of ATP1A3-related disorder Causes Genetic mutation Prevention None Treatment Symptom-centred Prognosis Medium (with treatment), bad (without treatment Frequency rare, only 14 cases have been [en.wikipedia.org]

There is no known cure for the syndrome that does not have any definite prognosis but can affect the heart and result in brain damage, blindness and hearing loss. [zenger.news]

[…] 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]

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]

PMID: 30904181 Cited by 6 articles Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder. [pubmed.ncbi.nlm.nih.gov]

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]

The mutation is thought to be gain-of-function.[5] Epidemiology[edit] According to OMIM,[6] only 14 cases have been described in medical literature. [en.wikipedia.org]

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]

Extensive neurological investigations have been normal, and the aetiology and pathophysiology of this disorder remain unclear. [pure.unic.ac.cy]

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]

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]

We suggest using acetazolamide, mainly to prevent or reduce neurological symptoms during acute episodes of fever. [elsevier.es]

Usual onset During a fever Duration Lifelong Types It is a type of ATP1A3-related disorder Causes Genetic mutation Prevention None Treatment Symptom-centred Prognosis Medium (with treatment), bad (without treatment Frequency rare, only 14 cases have been [en.wikipedia.org]