Chorea is present at onset in 80% of patients and upper limb dystonia (see this term) occurs in about 50% of individuals. [orpha.net]

Acronym AOA Synonyms AOA1 Ataxia early-onset with oculomotor apraxia and hypoalbuminemia Ataxia-oculomotor apraxia 1 Cerebellar ataxia early-onset with hypoalbuminemia EAOH EOCA-HA Keywords Disclaimer Any medical or genetic information present in this [uniprot.org]

We present two related Dariusleut Hutterite patients with documented DCMA syndrome and disorders of ocular motility: poor smooth pursuit and difficulty initiating saccadic eye movements and maintaining target fixation. [tandfonline.com]

Not present Not mentioned Often present Biochemical findings Late-onset low serum albumin & high cholesterol; normal alpha-fetoprotein at all stages Early elevation of alpha-fetoprotein Early elevation of alpha-fetoprotein Variable levels of serum albumin [ncbi.nlm.nih.gov]

OMA, which is the hallmark of the disease, is present in most (86%), but not all patients. [academic.oup.com]

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

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]

Currently, there is ongoing research into possible treatments for inherited ataxias although no viable treatments have yet been discovered. [annalsofian.org]

Prognosis AOA1 is a progressive neurodegenerative disorder and most patients usually become wheelchair bound from seven to ten years after onset of the disease. The documents contained in this web site are presented for information purposes only. [orpha.net]

Exact pathomechanism not clear. progress and prognosis Jerky movements of the head as well as muscular hypotonia and ataxic gait improve with age. Attendance at a regular school is most often possible. treatment No causal treatment available. [neocyst.de]

There are few reports of the long-term prognosis of children born with OMA. The head thrusts associated with OMA typically diminish over time, but tend not to completely disappear. [aapos.org]

Prognosis The saccadic problem usually but not always improves with age. [neuroophthalmology.ca]

Etiology AOA1 results from mutations in APTX gene (9p13.3) encoding aprataxin which plays a role in DNA-single-strand break repair. Most mutations identified so far are localized in exons 5, 6 and 7. [orpha.net]

She divided those with a known etiology (eg, abetalipoproteinemia, ataxia telangiectasia) from those whose etiology was unknown (eg, Friedreich ataxia, Ramsay Hunt syndrome, cerebellar ataxia with retinal degeneration). [medlink.com]

Regardless of etiologies, the area in brain which is usually affected remains to be superior parietal lobule (SPL) which is located in the parieto-occipital junction [2]. [ijsronline.net]

The etiology of OMA is usually not known. However, the condition is sometimes attributed to insults occurring either during the perinatal period or the first 6 months of life. [aapos.org]

Summary Epidemiology AOA1 represents 3.6% of all ARCA in Portugal; in Japan, AOA1 seems to be the most frequent cause of ARCA. [orpha.net]

[…] phenotypic heterogeneity, both in clinical presentation (particularly in susceptibility to pulmonary infection, presence and degree of cognitive impairment and predisposition to leukaemia) and rate of progression, reflecting allelic diversity. [ 6 ] Epidemiology [patient.info]

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]

• Researchers are rapidly learning about the underlying pathophysiology behind the inherited ataxia syndromes. [medlink.com]

Etiology Ataxia telangiectasia is caused by biallelic mutations in the ATM gene Pathophysiology The ATM gene is a controller of the cell cycle and of the cellular response to oxidative stress and to DNA double strand breaks, the most toxic lesions of [clinicaladvisor.com]

Knowing the pathophysiology and the various interacting mechanism that lead to an invariable end-point of such impairment following these common neurological maladies can provide us with a window of much more refined management strategies. [ijsronline.net]

Pathophysiology The origin of congenital ocular motor apraxia is unclear. [neuroophthalmology.ca]

The pathophysiology of cerebellar ataxias is as diverse as the various neurological and systemic diseases affecting the cerebellum. [practicalneurology.com]

Prevention of Secondary Complications High-protein diet to restore serum albumin concentration is indicated to prevent edema secondary to hypoalbuminemia. Low-cholesterol diet is advised. [ncbi.nlm.nih.gov]

The APTX gene encodes for the single strand break DNA repair protein. [4], [5] AOA1 is caused by a mutation on this gene. [6] The lack of functional APTX prevents the repair of breaks in DNA and has been shown to affect mitochondrial DNA to a great extent [annalsofian.org]

A-T is a multisystem disorder requiring multiple therapeutic interventions to slow or halt the neurodegeneration, to prevent or treat the tumours and to correct the associated immunodeficiency. [patient.info]

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]

Health care services aimed at preventing health problems or maintaining health are provided. 9. Patient-focused care is provided by working with health care professionals, including those from other disciplines. Medical Knowledge 10. [pediatriceducation.org]