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

They commonly present during adulthood, but less commonly can present during childhood. The family history of autosomal dominant ataxia is the key determining factor. [lecturio.com]

Telangiectasias develop from about the age of 3 years and may not be present until the age of 10 years, but will be present in all cases. [patient.info]

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]

• Unable to Stand

  He had a wide-based, unsteady gait and was unable to stand with feet together for more than a few seconds. The rest of his neurological examination was unremarkable. [annalsofian.org]

• Foot Deformity

  He presented a history of foot deformities and staggering gait with frequent fallings at age 4 years. The disease was slowly progressive and he was unable to walk unaided at age 10 years. [academic.oup.com]

• Areflexia

  Affiliated tissues include eye, and related phenotypes are nystagmus and dysarthria UniProtKB/Swiss-Prot : 76 Ataxia-oculomotor apraxia 3: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral [malacards.org]

  Format Definition An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. [uniprot.org]

  The disease is characterized by ataxia, dysmetria, peripheral neuropathy, areflexia, cerebellar atrophy, oculomotor apraxia and raised alpha-fetoprotein levels. [cags.org.ae]

  Ataxia, areflexia, and ocular muscle paralyses are also featured in the Fisher syndrome. [pediatricneurologybriefs.com]

  AOA1 is primarily caused by mutations in APTX, while AOA2 is caused by mutations in the SETX gene. 1 The major clinical features of AOA1 include the following: Cerebellar ataxia, oculomotor apraxia, and areflexia Childhood onset Slow progression leading [centogene.com]

• Hyporeflexia

  HP:0000514 12 distal sensory impairment 33 HP:0002936 Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: nystagmus oculomotor apraxia slow saccades impaired ocular movements head-eye lag Neurologic Peripheral Nervous System: areflexia hyporeflexia [malacards.org]

  Sensory loss, hyporeflexia: AR ataxias; SPN and SG (“sensory ataxia”); GA; MF; AVED; NS. [practicalneurology.com]

• Quadriplegia

  All affected individuals have generalized areflexia followed by a peripheral neuropathy and quadriplegia with loss of ambulation about seven to ten years after onset. Hands and feet are short and atrophic. Chorea and upper-limb dystonia are common. [lacaf.org]

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]

Attendance at a regular school is most often possible. treatment No causal treatment available. Symptomatic therapy of ataxia with physiotherapy and treatment of chronic renal failure. sources Betz R, Rensing C, Otto E, et al. [neocyst.de]

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]

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]

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]

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]

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]

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]

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]