What is Friedreich's ataxia?
Friedreich's ataxia is a genetic disorder that worsens the functioning of the nervous system and muscle movement. It causes spinal cord, main nerves and muscle fibers to degenerate over time, which eventually leads to paralysis and other major health complications. Symptoms of Friedreich's ataxia usually begin to appear in early childhood and are constantly getting worse with adolescence and early adulthood. There is no cure for disease, but medicines, physical therapy and surgery help many patients survive to their adult years and maintain positive views of life.
Scientists have found that the basic genetic factor responsible for Friedreich's ataxia is a frataxine gene on Chromosome 9. Gen normally triggers the formation of frataxine proteins that help control energy production in the brain, nerve cells and spinal cord. Mutated frataxine genes change DNA coding sequences, resulting in less, less effective proteins. As a resultthe whole body. Nerve cells and muscle fibers eventually degenerate and die.
Friedreich's ataxia is an autosomal recessive disease, which means that a person must inherit a mutated copy of the frataxine gene from both their parents to have it. The severity of the mutation may affect the severity, progression and the onset of symptoms. Some people with mild Friedreich ataxia have no problems until late life, but it is much more common that symptoms develop before age 15 years.
The first symptom of Friedreich's ataxia is often clumsy, unbalanced walking. A child may have trouble walking in a straight line or experience weakness and tingling in the feet when standing for a long time. Problems with muscle coordination and feeling in the legs tend to worse and eventually spread to ARMS and torso. A progressive case of ataxia can cause vision and speaking problems, spine scoliosis and complete loss of engine movement control. If it will be onOjit heart muscle, life -threatening complications may occur.
The physician diagnoses Friedreich's ataxia by careful review of symptoms and perform a number of tests. Electrocardiograms and similar diagnostic tests are used to monitor electrical activity in the heart and nervous system. Blood and cerebrospinal fluid samples are analyzed in the laboratory to confirm that the mutations of flavaxine genes are responsible for symptoms.
Treatment of Friedreich's ataxia depends on several factors, including the stage of the disease, specific symptoms and age of the patient. Young people who can still move their hands and feet may have to wear support braces and visit physical therapy sitting to develop better balance and control. If scoliosis is present, surgery or reinforcement is often necessary. Medicines for checking blocked from, muscle inflammation and heart rate are often prescribed to prevent great complications of the heart. Despite the specialized treatment for treatment, these diseases usually after about 20 lEtech leaves patients limited to wheelchairs or beds.