Friedreich's Ataxia - what is it?
Can you tell ma about the condition known as “Friedreich's Ataxia”?
The term ataxia refers to difficulties with coordinated movement and the name Friedreich commemorates Nicholas Friedreich the physician who first described the condition in the mid nineteenth century. It is an inherited condition that results in progressive degeneration of nerve tissue in the spinal cord with particular emphasis on that nerve tissue that controls movement in the arms and legs. The condition usually manifests itself between the ages of 5 and 15 years but can present as early as 18 months. Sometimes it can present as late as 30 years old but this is extremely rare. The first difficulty to arise is gait ataxia or walking difficulty. Over time the ataxia increases in severity and extends to involve the arms and trunk. The muscles gradually weaken and muscle wasting can be observed in the legs and hands. Deformities may develop as a result of the muscle weakening and many sufferers go on to develop scoliosis, which is a curvature of the spine. Most people develop difficulties with speech because of the disruption of coordination of the various muscles involved in speech production. Some people also have heart abnormalities such as cardiomyopathy, which means an enlargement of the heart. Approximately 10% of sufferers develop diabetes mellitus. The rate of progression varies from person to person but most sufferers are confined to a wheelchair within twenty years of the first onset of symptoms. Life expectancy is reduced and those with significant heart abnormalities tend to succumb in early adult life. However, those with lesser symptoms can live much longer.