What? Ataxia comes from the Greek word, " a taxis" meaning "without order or incoordination". Ataxia Telangiectasia is a rare, complex genetic neurodegenerative disorder characterized by progressively impaired coordination of voluntary movements (ataxia), lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels (telangiectasia), and impaired functioning of the immune system.

 

Who? AT affects males and females equally. Usually when a family with AT has more than one child with this disorder. Affects 1 in about 40,000-100,000 births. 

 

When? AT usually begins to develop during infancy and childhood, between one and three years of age. 

 

Where? AT affects most of the body, mainly because it affects muscles and blood vessles, two things found throughout the human anatomy. 

 

Why? Ataxia telangiectasia is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.   

 

Symptoms:

Diminished muscle coordination (especially in the head and neck area),tremors (involuntary muscle contractions), slurred speech and variable jerking, writhing and tic-like movements, discolorations in the eyelids, face, ears, roof of the mouth and possibly other areas of the body, rapid eye blinking and movements, premature aging, a variety of skin or hair problems, abnormalities of hormone producing (endocrine) glands, chronic sinus and/or lung infections, pneumonia and chronic bronchitis.

 

Treatments: There is no cure for AT. Treatments are mainly to control symptoms. 

• For respiratory infections, therapy with an antibiotic drug

• Avoidance of undue exposure to sunlight may help control spread and severity of dilated blood vessels (telangiectasias).

• The drug Diazepam (Valium) may be useful in some cases to help slurred speech and involuntary muscle contractions.

• Physical therapy may help maintain muscle strength and prevent limb contractures.

• Genetic counseling may be of benefit to persons with AT and their families.