Best mnemonics for Ataxia telangiectasia 2024

ATAXIA  TELANGIECTASIA

Ataxia telangiectasia is a complex syndrome with immunologic, neurologic, endocrinologic, hepatic, and cutaneous abnormalities.

Clinical Manifestations

The most prominent clinical features are progressive cerebellar ataxia, oculocutaneous telangiectasias, chronic sinopulmonary disease , a high incidence of malignancy, and variable humoral and cellular immunodeficiency. Recurrent sinopulmonary infections occur in approximately 80% of these patients. Although common viral infections have not usually resulted in untoward sequelae, fatal varicella has occurred.


 
Mnemonics- ATAXIA  (Defective DNA repair)
                                  Increase sensitivity to Ionizing radiation

A – Ataxia
Ataxia typically becomes evident soon after these children begin to walk and progresses until they are confined to a wheelchair, usually by age 10-12 yr.

      AR( Autosomal recessive)

      ATM gene
Genetics and Pathogenesis
The ataxia-telangiectasia mutation (ATM ) gene encodes a protein critical for responses to DNAdamage. Cells from patients, as well as from heterozygous carriers, have increased sensitivity to ionizing radiation, defective DNA repair, and frequent chromosomal abnormalities

T – Telangiectasia on bulbar conjunctiva
The telangiectasias begin to develop at 3-6 yr.
– Therapy in ataxia-telangiectasia is supportive.

A-Adenocarcinoma and lymphoreticular  malignancy
The malignancies associated with ataxia-telangiectasia are usually of the lymphoreticular type, but adenocarcinomas also occur. Unaffected carriers of mutations have an increased incidence of malignancy.

XI – 11 chromosome (eleven)

A- Alfafetoprotein increased
     A(Ig) decreased, IgE decreased
The most frequent humoral immunologic abnormality is the selective absence of IgA, which occurs in 5080% of these patients. IgG2 or total IgG levels may be decreased, and specific antibody titers may be decreased or normal.