Signs and Symptoms of Ataxia
Signs and symptoms of ataxia are:
- Difficulty walking that can lead to stumbling and falling.
- Slurred, slow speech
- Problems swallowing
Symptoms and signs of Friedreich's ataxia syndrome usually start when the person is between 5 and 15 years of age, although some people might not develop symptoms until adulthood.
Early symptoms of Friedreich's ataxia syndrome include:
Other associated symptoms of Friedreich's ataxia syndrome syndrome can include:
The rate at which the symptoms progress or worsen over time varies among affected people.
Signs and symptoms of ataxia are:
Friedreich's ataxia syndrome is caused by a mutation or defect in the gene known as FXN, which leads to the production of a protein called frataxin. The condition is inherited in an autosomal recessive manner, meaning that peoples who must inherit two defective copies of the gene, one from each parent, to develop the disease. Both males and females can be affected by Friedreich's ataxia syndrome.
Genetic testing for the mutation in the FXN gene can provide the definitive diagnosis. Other tests to measure nerve and muscle function are also sometimes used to establish the diagnosis, including an electromyogram (EMG), which measures the electrical activity of muscle cells, and nerve conduction studies, which measure the speed of nerve signaling. Imaging tests such as CT or MRI scans may be used to rule out other causes of the symptoms.
There is currently no effective treatment or cure for Friedreich's ataxia syndrome, and the symptoms cannot be reversed. Treatments are directed at improving quality of life and managing symptoms. For example, heart problems can be treated with medication, and orthopedic complications such as deformities and scoliosis can be corrected with surgery or bracing. Physical therapy, speech therapy, and hearing aids may be useful for some people with the condition.
As discussed previously, the rate at which the symptoms worsen varies among affected people. Most people are confined to a wheelchair within 10 to 20 years after the appearance of the first symptoms. Later in the disease, those affected may become incapacitated. Friedreich's ataxia syndrome can shorten life expectancy, but some people with less severe symptoms live into their sixties or older. The most common cause of death is heart disease.
Research efforts on Friedreich's ataxia syndrome focus on many different aspects of the disease, including the exact cause of the FXN gene mutation, better understanding the function of frataxin, and examining possible ways to overcome the genetic mutation that could contribute to treatments for the disease.
CT scan (computerized tomography) is a procedure that uses X-rays to scan and take images of cross-sections of parts of the body. CT scan can help diagnose broken bones, tumors or lesions in areas of the body, blood clots in the brain, legs, and lung, and lung infections or diseases like pneumonia or emphysema.
MRI (magnetic resonance imaging) is a procedure that uses strong magnetic fields and radiofrequency energy to make images of parts of the body, particularly, the organs and soft tissues like tendons and cartilage.
Both CT and MRI are painless, however, MRI can be more bothersome to some individuals who are claustrophobic, or suffer from anxiety or panic disorders due to the enclosed space and noise the machine makes.
MRI costs more than CT, while CT is a quicker and more comfortable test for the patient.
Heart disease (coronary artery disease) occurs when plaque builds up in the coronary arteries, the vessels that supply blood to the heart. Heart disease can lead to heart attack. Risk factors for heart disease include:
Angina, shortness of breath, and sweating are just a few symptoms that may indicate a heart attack. Treatment of heart disease involves control of heart disease risk factors through lifestyle changes, medications, and/or stenting or bypass surgery. Heart disease can be prevented by controlling heart disease risk factors.
Heart disease in women has somewhat different symptoms, risk factors, and treatment compared to heart disease in men. Many women and health professionals are not aware of the risk factors for heart disease in women and may delay diagnosis and treatment. Lifestyle factors such as diet, exercise, tobacco use, overweight/obesity, stress, alcohol consumption, and depression influence heart disease risk in women. High blood pressure, high cholesterol, and diabetes also increase women's risk of heart disease. Electrocardiogram (EKG or ECG), stress-ECG, endothelial testing, ankle-brachial index (ABI), echocardiogram, nuclear imaging, electron beam CT, and lab tests to assess blood lipids and biomarkers of inflammation are used to diagnose heart disease. Early diagnosis and treatment of heart disease in women saves lives. Heart disease can be prevented and reversed with lifestyle changes.