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]

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

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

  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. [annalsofian.org]

• 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

  […] 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]

• High Foot Arch

  A rare syndrome characterized mainly by ataxia, absent reflexes, high foot arch (pes cavus), progressive optic nerve degeneration and hearing impairment. The ataxic symptoms tended to occur early in life after an illness involving fevers. [chemwatch.net]

  foot arch), optic atrophy & sensorineural hearing loss. [xpertdox.com]

• Urinary Urgency

  The neurological findings were unchanged at 32 years of age, but she reported swallowing difficulties owing to slow movement of her lips and tongue, and increased urinary urgency and frequency, which responded well to treatment with oxybutynin. [ojrd.biomedcentral.com]

• 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]

  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

  […] 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 ataxia, truncal. [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]

  She came to our hospital due to optic atrophy with bilateral amaurosis, sensorineural hearing loss, and gait ataxia, developing progressively from childhood. [elsevier.es]

  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. [annalsofian.org]

• 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]

  […] 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]

  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]

• Cerebellar Sign

  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]

• Loss of Gait

  She came to our hospital due to optic atrophy with bilateral amaurosis, sensorineural hearing loss, and gait ataxia, developing progressively from childhood. [elsevier.es]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

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]

Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options. [books.google.de]

[…] 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]

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]

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]

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]

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

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]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

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