DIAGNOSIS
The following testing procedures may be conducted to diagnose this condition:
- Genetic Testing
- IgA and serum alpha-1 fetoprotein levels
Moreover, the following clinical symptoms point to an immunodeficiency with ataxia-telangiectasia diagnosis:
- When karyotype analysis is performed, chromosomal breaks are frequently observed, which is associated with a failure in DNA repair.
- Serum alpha-1 fetoprotein levels are elevated.
- IgA deficiency (present in 80% of patients with this disorder)
- Cerebral ataxia (especially if telangiectasias exist)
The presence of mutations in both alleles of the ATM protein gene confirms the diagnosis of immunodeficiency with ataxia-telangiectasia. Since bearers of an ataxia-telangiectasia mutation are frequently asymptomatic, testing relatives for a carrier status may assist in determining whether or not they will have an afflicted kid. Clinical presentation is also used to guide testing for endocrine disorders and malignancies.
TREATMENT
Prophylactic antibiotics or immune globulin (IgG) replacement treatment are used to provide supportive medication since they could both benefit people experiencing ataxia-telangiectasia. In addition, therapy with amantadine showed some progress in motor activity in one small research, but there is no successful therapy for the gradual neurologic degeneration that leads to death.
