Ataxia often arises when a part of the nervous system that control movement damaged . People with ataxia experience a failure of muscle control in their hands and feet , resulting in a lack of balance and coordination or a disturbance of gait ( Glucosamine / Chondroitin Arthritis Intervention Trial ) .
Friedreich 's Ataxia is a hereditary disease causes progressive damage to the nervous system resulting in gait disturbance and speech problems to heart disease . The disease is named after the physician Nicholaus Friedreich , who first described the condition in 1980 .
Ataxia is a coordination disorders such as clumsy or awkward movements and is not solid , appearing in many diseases and conditions .
Friedreich's ataxia is caused deterioration of nerve tissue in the spinal cord ( spinal cord ) and the nerves that control muscle movement in the arms and legs . Nerve becomes thinner and nerve cells lose myelin fibers .
Friedrich 's ataxia , although rare is derived ataxia and occurs most frequently in women and men with similar risk .
CAUSE
Most of the disorders that result in ataxia cause parts of the brain called the cerebellum ( little brain ) deteriorate or atrophy . Sometimes the spinal cord ( spinal cord ) are also affected . Cerebellar degeneration and spinosereberal used to describe the changes that occur in the human nervous system , but not a specific diagnosis . Spinosereberal cerebellar degeneration and has many causes .
SYMPTOMS
Symptoms and time of onset depend on the type of ataxia . In fact there are many variations in the same family with the same type of ataxia . Recessive disorders commonly cause symptoms that began in childhood than adulthood.
However , in recent years , since genetic testing is available , it is known Friedreich's ataxia began to occur as adults in some cases . Dominant ataxia often appeared at the age of 20 years to 30 years or even older . Sometimes people may not show symptoms until the age of 60 years .
Usually balance and coordination are affected first . The lack of coordination of the hands , arms and legs and speech are other common symptoms . Walking became increasingly difficult and marked by placing the foot goes farther and farther to compensate for poor balance .
Arm and hand coordination disorder affects a person's ability to perform fine motor control such as writing and eating . Slow eye movements can be seen in some forms of ataxia . Over time , ataxia can affect speech and swallowing .
Ataxia is an inherited degenerative disorder that develops over several years . How severe and likely lead to death depending on the type of ataxia , the age of onset of symptoms and other factors only poorly understood at this time . Respiratory complications can be fatal in people ? Bed bound ? or have swallowing problems are severe .
Diagnosis
Diagnosis of Friedreich's ataxia is done by clinical examination including medical history and physical examination through . Tests performed include :
Electromyogram ( EMG ) , which measures the electrical activity of muscle cells .
Nerve delivery studies , which measure the speed of nerve stimulation continue .
Electrocardiogram ( ECG ) , which gives the result graphs or patterns of electrical activity in heart rate
Echocardiogram , which record the position and movement of the heart muscle .
Magnetic resonance imaging ( MRI ) or computed tomography scan ( CT ) scans , which provide images of the brain and spinal cord .
A spinal tap ( spinal tap ) to evaluate the cerebrospinal fluid .
Blood and urine tests to determine glucose levels rise .
Genetic tests to identify the genes that are affected .
TREATMENT
Along with a number of degenerative diseases of the nervous system , there is no cure or effective treatment for Friedrich 's Ataxia . After all , many of the symptoms and complications that can be treated to help patients maintain optimal functioning as long as possible . Diabetes , if any , can be treated with diet and drugs such as insulin and some heart diseases can also be treated with medication .
Orthopedic problems such as scoliosis deformitis feet and can be treated with braces or surgery . Physical therapy may prolong use of the arms and legs . Researchers hope advances in understanding the genetic Friedrich ataxia can be split in treatment .
PREVENTION
Genetically inherited disease can not be prevented . However , many studies are being conducted to further understand this disease .
