Ataxia Telangiectasia

Question 1

What two preliminary blood tests can help confirm diagnosis?

Answer 1

1. Immunoglobulin - IgG, IgE, and IgA decreased

2. Elevated AFP (CEA also elevated)

Question 2

What is the inheritance of ATM?

Answer 2

Autosomal recessive

Question 3

What is the associated immune response?

Answer 3

Immunodeficiencies in 60-80%

Poor antibody response to pneumococcal vaccine and 30% T cell dysfunction

Question 4

What are the clinical manifestations of ATM?

Answer 4

1. Telangiectasia appear AFTER ataxia (ocular, malar, antecubital fossa, chest)
2. Dysarthria, nystagmus, oculomotor apraxia, choroeoathetosis, tremor, dystonia, myoclonus
3. Polyneuropathy (absent or decreased DTR)
4. Intelligence typically normal
5. Immunodeficiency frequent resp infections
6. Associated with increased risk of leukemia and lymphoma
7. Death by age 20yo usu. from infection or neoplasm