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== [[Ataxia telangiectasia overview|Overview]] ==
== [[Ataxia telangiectasia overview|Overview]] ==


[[Ataxia telangiectasia]] ([[A-T]])is an [[autosomal recessive disorder]] caused by [[mutations]] in the [[gene]] [[ATM]] ([[ataxia-telangiectasia]] [[mutated]])(11q22.3). This [[gene]] is [[expressed]] commonly and [[encodes]] a [[protein kinase]] ([[ATM kinase]]) which plays a key role in the control of double-strand-break [[DNA repair]].
[[Ataxia telangiectasia]] ([[A-T]])is an [[autosomal recessive disorder]] caused by [[mutations]] in the [[gene]] [[ATM]] ([[ataxia-telangiectasia]] [[mutated]])(11q22.3). This [[gene]] is [[expressed]] commonly and [[encodes]] a [[protein kinase]] ([[ATM]] [[kinase]]) which plays a key role in the control of double-strand-break [[DNA repair]].
A-T is a [[progressive]], [[multisystem]] [[disease]] that has a large number of complex and diverse manifestations that vary with age.   
A-T is a [[progressive]], [[multisystem]] [[disease]] that has a large number of complex and diverse manifestations that vary with age.   
The clinical picture of this condition can be very variable and the severity of the [[pulmonary]], [[immunological]] and [[neurological]] manifestations varies widely between patients and is related to the severity of the underlying mutations and any residual ATM kinase activity. It has been recently suggested that the name A-T should be replaced by ATM syndrome. ATM syndrome represents a neurodegenerative disorder with multisystem involvement due to the absence or reduced levels of ATM protein and kinase activity. The syndrome is characterised by the presence of movement disorders, such as cerebellar ataxia, dystonia, chorea and myoclonus, in association with systemic abnormalities such as immunodeficiency, malignancies, oculocutaneous telangiectasias and an increase in α-fetoprotein levels. The disease most commonly presents with ataxia during the third or fourth year of life. The important first step in the evaluation of young children presenting with ataxia should be α-fetoprotein testing. The diagnosis should then be confirmed by genetic testing to identify the mutations and measure the product of the ATM gene, the protein kinase ATM. This diagnostic test is likely to be available in specialised laboratories only.
The clinical picture of this condition can be very variable and the severity of the [[pulmonary]], [[immunological]] and [[neurological]] manifestations varies widely between patients and is related to the severity of the underlying [[mutations]] and any residual [[ATM kinase]] activity. It has been recently suggested that the name [[A-T]] should be replaced by [[ATM]] [[syndrome]]. [[ATM]] [[syndrome]] represents a [[neurodegenerative disorder]] with [[multisystem]] involvement due to the absence or reduced levels of [[ATM]] [[protein]] and [[kinase]] activity. The syndrome is characterised by the presence of movement disorders, such as [[cerebellar ataxia]], [[dystonia]], [[chorea]] and [[myoclonus]], in association with systemic abnormalities such as [[immunodeficiency]], [[malignancies]], [[oculocutaneous]] [[telangiectasias]] and an increase in [[α-fetoprotein]] levels. The disease most commonly presents with [[ataxia]] during the third or fourth year of life. The important first step in the evaluation of young children presenting with [[ataxia]] should be [[α-fetoprotein]] testing. The diagnosis should then be confirmed by [[genetic]] testing to identify the [[mutations]] and measure the product of the [[ATM]] gene, the [[protein]] [[kinase]] [[ATM]]. This [[diagnostic test]] is likely to be available in specialised laboratories only.
Patients with A-T die prematurely, the leading causes of death being respiratory diseases and cancer. A minimally estimated annual mortality rate for white patients is 19.5/1000 for ages 15–19 years and reportedly three-fold higher for African-American patients.
Patients with [[A-T]] die prematurely, the leading causes of [[death]] being [[respiratory diseases]] and [[cancer]]. A minimally estimated annual [[mortality]] rate for white patients is 19.5/1000 for ages 15–19 years and reportedly three-fold higher for African-American [[patients]].


== [[Ataxia telangiectasia historical perspective|Historical Perspective]] ==
== [[Ataxia telangiectasia historical perspective|Historical Perspective]] ==

Revision as of 22:13, 31 July 2021

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Seyed Arash Javadmoosavi, MD[2] Zaida Obeidat, M.D. For patient information, click here

Ataxia telangiectasia
ICD-10 G11.3
ICD-9 334.8
OMIM 208900
DiseasesDB 1025
MedlinePlus 001394
MeSH D001260

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Synonyms and keywords: Louis-bar syndrome, Boder-sedgwick syndrome.

Overview

Ataxia telangiectasia (A-T)is an autosomal recessive disorder caused by mutations in the gene ATM (ataxia-telangiectasia mutated)(11q22.3). This gene is expressed commonly and encodes a protein kinase (ATM kinase) which plays a key role in the control of double-strand-break DNA repair. A-T is a progressive, multisystem disease that has a large number of complex and diverse manifestations that vary with age. The clinical picture of this condition can be very variable and the severity of the pulmonary, immunological and neurological manifestations varies widely between patients and is related to the severity of the underlying mutations and any residual ATM kinase activity. It has been recently suggested that the name A-T should be replaced by ATM syndrome. ATM syndrome represents a neurodegenerative disorder with multisystem involvement due to the absence or reduced levels of ATM protein and kinase activity. The syndrome is characterised by the presence of movement disorders, such as cerebellar ataxia, dystonia, chorea and myoclonus, in association with systemic abnormalities such as immunodeficiency, malignancies, oculocutaneous telangiectasias and an increase in α-fetoprotein levels. The disease most commonly presents with ataxia during the third or fourth year of life. The important first step in the evaluation of young children presenting with ataxia should be α-fetoprotein testing. The diagnosis should then be confirmed by genetic testing to identify the mutations and measure the product of the ATM gene, the protein kinase ATM. This diagnostic test is likely to be available in specialised laboratories only. Patients with A-T die prematurely, the leading causes of death being respiratory diseases and cancer. A minimally estimated annual mortality rate for white patients is 19.5/1000 for ages 15–19 years and reportedly three-fold higher for African-American patients.

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Ataxia telangiectasia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | CT | MRI | Other Diagnostic Studies

Treatment

Medical Therapy | Cost Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

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de:Louis-Bar-Syndrom it:Atassia teleangectasica he:תסמונת אטקסיה טלנגיאקטזיה sr:Атаксија-телеангиектатика

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