Ataxia - telangiectasia
Louis-Bar syndrome
Ataxia-telangiectasia is a rare childhood disease. It affects the brain and other parts of the body.
Ataxia refers to uncoordinated movements, such as walking. Telangiectasias are enlarged blood vessels (capillaries) just below the surface of the skin. Telangiectasias appear as tiny, red, spider-like veins.
Causes
Ataxia-telangiectasia is inherited. This means it is passed down through families. It is an autosomal recessive trait. Both parents must provide a copy of a nonworking gene for the child to have symptoms of the disorder.
Autosomal recessive
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...
The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. Defects in this gene can lead to abnormal cell death around the body, including the part of the brain that helps coordinate movement.
Boys and girls are equally affected.
Symptoms
Symptoms include:
-
Decreased coordination of movements (ataxia) in late childhood that can include ataxic gait (cerebellar
ataxia
), jerky gait, unsteadiness
Ataxia
Uncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. It leads to a jerky, unsteady, to-and-fr...
- Decreasing mental development, slows or stops after age 10 to 12
- Delayed walking
- Discoloration of skin areas exposed to sunlight
- Discoloration of skin (coffee-with-milk-colored spots)
- Enlarged blood vessels in skin of nose, ears, and inside of the elbow and knee
- Enlarged blood vessels in the whites of the eyes
-
Jerky or abnormal eye movements (
nystagmus
) late in the disease
Nystagmus
Nystagmus is a term to describe fast, uncontrollable movements of the eyes that may be:Side to side (horizontal nystagmus)Up and down (vertical nysta...
- Premature graying of the hair
- Seizures
- Sensitivity to radiation, including x-rays
- Severe respiratory infections that keep coming back (recurring)
Exams and Tests
The health care provider will perform a physical exam. The exam may show signs of the following:
- Tonsils, lymph nodes, and spleen below normal size
- Decreased to absent deep tendon reflexes
- Delayed or absent physical and sexual development
-
Growth failure
Growth failure
Failure to thrive refers to children whose current weight or rate of weight gain is much lower than that of other children of similar age and gender....
- Mask-like face
- Multiple skin coloring and texture changes
Possible tests include:
-
Alpha fetoprotein
Alpha fetoprotein
Alpha fetoprotein (AFP) is a protein produced by the liver and yolk sac of a developing baby during pregnancy. AFP levels go down soon after birth. ...
-
B and T cell screen
B and T cell screen
A B and T cell screen is a laboratory test to determine the amount of T and B cells (lymphocytes) in the blood.
-
Carcinoembryonic antigen
Carcinoembryonic antigen
The carcinoembryonic antigen (CEA) test measures the level of CEA in the blood. CEA is a protein normally found in the tissue of a developing baby i...
- Genetic testing to look for mutations in the ATM gene
- Glucose tolerance test
- Serum immunoglobulin levels (IgE, IgA)
- X-rays to look at the size of the thymus gland
Treatment
There is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific symptoms.
Support Groups
Ataxia Telangiectasia Children's Project: www.atcp.org
National Ataxia Foundation (NAF): www.ataxia.org
Outlook (Prognosis)
Early death is common, but life expectancy varies.
Because people with this condition are very sensitive to radiation, they should never be given radiation therapy, and no unnecessary x-rays should be done.
Possible Complications
Complications may include:
-
Cancer, such as
lymphoma
Lymphoma
Hodgkin lymphoma is a cancer of lymph tissue. Lymph tissue is found in the lymph nodes, spleen, liver, bone marrow, and other sites.
-
Diabetes
Diabetes
Diabetes is a chronic disease in which the body cannot regulate the amount of sugar in the blood.
-
Kyphosis
Kyphosis
Kyphosis is a curving of the spine that causes a bowing or rounding of the back. This leads to a hunchback or slouching posture.
- Progressive movement disorder that leads to wheelchair use
-
Scoliosis
Scoliosis
Scoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...
-
Severe, recurrent
lung infections
Lung infections
Pulmonary angiography is a test to see how blood flows through the lung. Angiography is an imaging test that uses x-rays and a special dye to see in...
When to Contact a Medical Professional
Call your provider if your child develops symptoms of this disorder.
Prevention
Couples with a family history of this condition who are considering pregnancy may consider genetic counseling.
Parents of a child with this disorder may have a slight increased risk for cancer. They should have genetic counseling and increased cancer screenings.
References
Gatti R. Ataxia-telangiectasia. GeneReviews . Seattle, WA: University of Washington; 2010:3. Accessed August 1, 2015. www.ncbi.nlm.nih.gov/pubmed/20301790 .
-
Antibodies - illustration
Antigens are large molecules (usually proteins) on the surface of cells, viruses, fungi, bacteria, and some non-living substances such as toxins, chemicals, drugs, and foreign particles. The immune system recognizes antigens and produces antibodies that destroy substances containing antigens.
Antibodies
illustration
-
Antibodies - illustration
Antigens are large molecules (usually proteins) on the surface of cells, viruses, fungi, bacteria, and some non-living substances such as toxins, chemicals, drugs, and foreign particles. The immune system recognizes antigens and produces antibodies that destroy substances containing antigens.
Antibodies
illustration
Review Date: 8/1/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.