Ataxia is a loss of muscle coordination; there are several different types.
Friedreich ataxia is a genetic condition that damages nerve tissue, resulting in a loss of coordination that worsens over time. Strength is also lost, as is sensation in the arms and legs. Limbs may be stiff, speech may be impaired, and heart function may be affected.
In many cases of Friedreich ataxia, symptoms first appear in childhood or the early teenage years. A person may exhibit poor balance when walking or slurred speech. Approximately one quarter of all cases appear after age twenty-five and are classified as late onset or very late onset (age forty or older).
Friedreich ataxia affects approximately one person out of forty thousand. The disease is also known as FA, hereditary spinal ataxia, and hereditary spinal sclerosis.
Ataxia telangiectasia is a rare, inherited disorder that affects the nervous system, immune system, and other body systems. It usually appears in early childhood; affected children develop difficulty walking, problems with balance, abnormal eye movements, and slurred speech. Clusters of enlarged blood vessels known as telangiectases appear in the eyes and on the surface of the skin. Many develop chronic lung infections or cancer.
Ataxia telangiectasia occurs in one to two people out of every one hundred thousand people around the world. This disease is also known as Louis-Bar syndrome.
Ataxia with lactic acidosis is also known as pyruvate carboxylase deficiency. This inherited disorder causes lactic acid and other potentially toxic compounds to build up in the blood. High levels can damage the body’s organs and tissues — especially the nervous system. There are three different types of pyruvate carboxylase deficiency.
- Type A symptoms include developmental delay and a buildup of lactic acid in the blood. The acidity can cause vomiting, abdominal pain, fatigue, muscle weakness, and trouble breathing. This type is seen most often in North America.
- Type B symptoms become apparent shortly after birth. Infants with this form usually survive for only three months or less. Lactic acid and ammonia build up in the blood, leading to neurological problems and liver failure. This type is seen most often in Europe.
- Type C symptoms are very mild. Lactic acid levels in the blood are slightly increased; other symptoms are minimal.
Ataxia with lactic acidosis is rare — approximately one out of every two hundred and fifty thousand births worldwide.