Ataxia telangiectasia: Difference between revisions

Jump to navigation Jump to search
No edit summary
Line 22: Line 22:


== [[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.
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.


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

Revision as of 15:45, 18 July 2021

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

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

Ataxia telangiectasia Microchapters

Home

Patient Information

Overview

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

Ataxia telangiectasia On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Ataxia telangiectasia

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Ataxia telangiectasia

CDC on Ataxia telangiectasia

Ataxia telangiectasia in the news

Blogs on Ataxia telangiectasia

Directions to Hospitals Treating Ataxia telangiectasia

Risk calculators and risk factors for Ataxia telangiectasia


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

Template:Phakomatoses and other congenital malformations not elsewhere classified

Template:Diseases of the nervous system

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

Template:WH

Template:WS