A- A A+

The article below is listing ALL the symptoms that can be observed in ataxia telangiectasia.

It is intended as a diagnostic aid, but absolutely not the description of a planned evolution of the disease, so different from one patient to an other.

One objective of the site is to describe and provide answers to each of the symptoms discussed below.

 

A very large clinical variability is observed among children with AT. Therefore many of the symptoms described below may not be observed in a child or in the age group indicated.

 

Toddlers

Among toddlers, few signs are apparent. There may be abnormal movements of the head while sitting, the child's head will bow down gently until it straightens suddenly, for example when looking at something carefully.

The children take their first steps at the right age. In contrast, walking will long remain unsteady. But again, one got to have sometimes the sixth sense of amother to detect it.

BEcause of immune deficiency or gastrooesophageal reflux, there may have common ENT and bronchial infections but nothing that could be distinguished from some others

 

Small kids

In the midst of other children in a playground for example, balance problems become more evident, especially outside movements,in static postures (eg standing). But in this age, the child development tends to supplant the deterioration of the balance due to the disease(ataxia).

Where learning and understanding of language does not pose a problem, progressive disorder of speech may occur: the child barely starts his sentences, the words "struggle to get out" and may be accompanied by "grimaces" of effort. The flow becomes slower: it's dysarthria .

Fine motor is gradually altered: cut with scissors can be laborious, graphics trembled.

Generally speaking, a child with AT is continuously making efforts to control its movements and therefore has a great fatigue.

ENT and pulmonary infections continue and, through repetition, can become serious. The determining factor is the level of immune deficiency, which varies greatly from one child to another.

The growth can be slowed.

 

Children

From the age of 6 to 8, the pace of child development slows down a bit. For children affected by AT, some of the symptoms described above may become disadvantageous. Others may appear, for example:

  • An oculomotor apraxia: this is the difficulty for the child to follow a moving object of the gaze. The head turns first and the eyes follow haltingly with jerks
  • télangiectasia (small capillaries) to the skin and the whites of eyes
  • Hypotonic facies: on children's faces, their expressions do not always reflect their feelings

Although the intellectual development is not affected, motor problems lead to difficulties of learning and a certain slowness, justifying physical and / or educational adaptations .

Teenagers

For children affected by AT, adolescence is marked by the need formobility aids, including wheelchairs, they agree generally well.

Tremors of the extremities may be present as well as unwanted movements (choreoathétosis).

The salivary glands may begin to produce more than necessary (drooling).

Children often have an equal temperament.

Hair, skin and vascular changes may occur due to accelerated aging (Progeria).

In the general picture of Ataxia Telangiectasia, it is also described a predisposition to insulin resistant diabetes during adolescence, but it concerns only a minority.

 

Other possible features described in the AT

  • Absence or hypoplasia (small size) of the thymus
  • Endocrine abnormalities (hormones)
  • Cerebellar cortical degeneration, involving mainly the Purkinje cells (cerebellum) and basal ganglia
  • Susceptibility of developing a malignant tumor (carcinoma), but mainly a leukemia or a lymphoma. The proportion of affected children changes with age, approximately 20% in children up to 39% in adulthood.
  • High sensitivity to radiation: it is necessary to limit exposure to X-rays (radiographs) to the tests which are absolutely essential
  • Sterility

 

The prognosis of ataxia telangiectasia is severe and dominated by respiratory infections, neurodegenerative syndrome, mucocutaneous accelerated aging and a high risk of cancer.

Unfortunately there is no treatment, at present, to cure Ataxia Télangiecasie. Some tracks, however, are being evaluated by researchers.

We know, however, how to delay, improve or treat some of its consequences. Identify solutions is one of the objectives of this site.

This explains why life expectancy, about 20 years including all the comments made over the past 30 years, now regularly exceeds 25 years thanks to better management. A few patients even reach their forties.

Keep in mind that statistics are the figures of the past and do not assume the future which is changing gradually as medicine progresses ...

L' AT, c'est quoi?

L'ataxie télangiectasie (AT) est une maladie rare, neurodégénérative et immunodépressive, maladie héréditaire qui affecte de nombreuses parties du corps et provoque de graves incapacités... SUITE

La recherche

La recherche sur le gène ATM en France et dans le monde. Comment combattre une maladie comme l'ataxie télangiectasie? Les projets scientifiques d'AT Europe.

Évènements

Des fêtes, des stands, des exploits, des concerts ou la mobilisation des enfants pour leurs copains... retrouvez-les tous ici! Et pour vous lancer, suivez le mode d'emploi!

Réseau ATEurope

       
 
Forgot Login?   Sign up  
1km parcouru sur un tapis=1€! (pendant 2 jours en 2015)
Sur l'Etape du Tour 2014!
Sur la course Vertigo en 2013 et 2014!
1€ par contrat de vente en 2015 (>1000)!
Pour les Foulées du Tertre depuis 2012!
Sur la course Vertigo en 2013 et 2014!

Organisez votre évènement!

Sports

Fêtes et spectacles

Stands et ventes

Règles et conseils

Ils s'engagent:

Ils sont chercheurs, sportifs, artistes ou simplement bénévoles. Leur seule motivation: redonner le sourire aux enfants d'AT Europe!

Etudes ouvertes aux familles

CEREDIH

La base de données française tenue par le CEREDIH, partenaire privilégié d'ATEurope, renferme probablement les données médicales les plus complètes au monde et toutes les mutations génétiques des personnes françaises atteintes d'AT. Parlez-en à vos médecins!

La base de données française

CURIE

Dans le cadre de la recherche d'un lien entre cancer du sein et gène ATM, l'étude CoF-AT de l'institut Curie rassemble des données sur les femmes hétérozygotes pour ce gène, c'est-à-dire porteuses saines d'une copie déficiente du gène comme peuvent l'être les mamans des enfants atteints d'AT et d'autres membres de leur famille. Faites-vous connaître!

Étude CoF-AT
de
l'institut Curie

Global AT family data project

ATCP aux USA vient de mettre en place une base de données mondiale liée à l'AT. Complémentaire de celle du CEREDIH, elle permet aux familles concernées de transmettre des données qui n'étaient pas recueillies jusque là, comme les imageries de type IRM ou scanner ou des informations liées aux aptitudes, au comportement ou encore à l'alimentation, etc. Parallèlement, un programme de recueil de 500 génomes complets est mis en place. Vous pouvez participer!

La base mondiale des autres données

Copyright © 2019 ATEurope. All Rights Reserved.
Joomla! is Free Software released under the GNU General Public License.