Description Friedrich's ata...
Description
Friedrich's ataxia is an inherited disorder that causes deterioration of nerve cells over time. In addition to nerve cells, many people also experience problems with the heart, bones and the pancreas. The disorder is caused by extra repetitions of a small segment of the genetic code on the 9th chromosome. Most people with the disease experience symptoms in childhood but cases have been reported in infants and middle-aged adults. Symptoms begin with difficulty walking and progress to trouble talking and shaking. In the end, the majority of patients are unable to walk and develop heart failure.
Symptoms
Symptoms include shaking movements, trouble walking, paralysis, numbness and trouble speaking. Bony deformities can develop that include club foot, scoliosis and other deformities of the toes and foot. Cardiac abnormalities can include shortness of breath, chest pain, rapid heart rate and heart failure. If there is involvement of the pancreas, there can be elevated blood sugars, fatigue, weight loss and excessive thirst or hunger.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical will be performed. Blood tests, heart and nerve tests and imaging tests will be performed to exclude other causes of symptoms. Genetic testing may be performed to confirm the diagnosis.
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Electrocardiogram (EKG), Electromyography (EMG), Magnetic resonance imaging (MRI), Troponin, Urinalysis (UA), X-ray
Other Specific Tests: genetic testing, holter monitor
Specialists:
Orthopedic Surgery, Cardiology, Neurology, Pediatrics, Pediatric Neurology
Workup:
A history and physical will be performed. Blood tests, heart and nerve tests and imaging tests will be performed to exclude other causes of symptoms. Genetic testing may be performed to confirm the diagnosis.
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Electrocardiogram (EKG), Electromyography (EMG), Magnetic resonance imaging (MRI), Troponin, Urinalysis (UA), X-ray
Other Specific Tests: genetic testing, holter monitor
Specialists:
Orthopedic Surgery, Cardiology, Neurology, Pediatrics, Pediatric Neurology
Treatment
There is no specific treatment for Friedrich's ataxia. Treatment is directed at minimizing symptoms and prolonging life. Physical and occupational therapy is beneficial. Orthopedic procedures such as bracing for the legs or surgery for scoliosis can help minimize some symptoms. Symptoms related to heart failure and diabetes can be improved with medications.