Symptoma

CAPOS Syndrome

DOA+

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]

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

  • 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]

  • 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]

    […] adult-onset ALS UBQLN2 Amyotrophy hereditary neuralgic SEPT9 Angelman syndrome chr. 15q11 Angelman syndrome UBE3A Angelman-like syndrome CDKL5 Angelman-like syndrome MECP2 Arts syndrome PRPS1 Asperger syndrome susceptibility X-linked type 2 NLGN3 Ataxia and muscle [centogene.com]

  • High Foot Arch

    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. [ncbi.nlm.nih.gov]

  • 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

    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]

    She had a reduced level of consciousness for the first two weeks and slow recovery afterwards with dysarthria, dysphagia, dysmetria and truncal and gait ataxia. [ncbi.nlm.nih.gov]

  • 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]

    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. [ncbi.nlm.nih.gov]

  • Lethargy

    The individuals presented here experienced one to three paroxysmal, short-lasting episodes in childhood with cerebellar symptoms and signs, hypotonia, ophthalmoparesis, motor weakness, areflexia, and/or lethargy that were consistently associated with [ncbi.nlm.nih.gov]

    This may consist of cerebellar ataxia, hypotonia, drowsiness, dysarthria, and lethargy. There may be partial or full recovery following the febrile illness initially but some signs remain after subsequent episodes. [disorders.eyes.arizona.edu]

  • Pendular Nystagmus

    Clinical re-evaluation at age 27 years showed optic atrophy with impaired vision (acuity 6/60 in the left eye and 6/36 in the right eye) with pendular nystagmus in all directions of gaze and superimposed square wave jerks. [ncbi.nlm.nih.gov]

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

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

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]

[…] 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]

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]

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]

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]