Neurology · Neurology / Movement disorders (ataxias); Immunology
Ataxia-telangiectasia
also: A-T; Louis-Bar syndrome
Autosomal recessive progressive ataxia with telangiectasia and immunodeficiency.
- Specialty
- Neurology
- Subspecialty
- Neurology / Movement disorders (ataxias); Immunology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, onset in early childhood
- Gene(s) involved
- ATM
- Alternative names & eponyms
- A-T; Louis-Bar syndrome
Etiology & mechanism
Loss of ATM kinase impairs DNA damage response.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Ataxia-telangiectasia may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Bálint syndrome
oculomotor apraxia
1 shared
Balint syndrome
oculomotor apraxia
1 shared
Bloom syndrome
immunodeficiency
1 shared
Cartilage–hair hypoplasia syndrome
immunodeficiency
1 shared
CREST syndrome
telangiectasia
1 shared
Folate malabsorption syndrome
immunodeficiency
1 shared
Griscelli syndrome
immunodeficiency
1 shared
Hoyeraal–Hreidarsson syndrome
immunodeficiency
1 shared
Nijmegen breakage syndrome
immunodeficiency
1 shared
Poretti–Boltshauser syndrome
oculomotor apraxia
Shares genes with
None.
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