Diagnosis of Friedreich’s Ataxia can be carefully done by reviewing the symptoms, medical history, and any history of neuromuscular disorders in a family. A doctor will perform a thorough physical examination, especially of the heart, and neurological examination, especially of the legs, arms, and eyes.
Tests that may help diagnose FA include nerve conduction studies, electromyogram, electrocardiogram, echocardiogram, magnetic resonance imaging, and blood tests. But a conclusive diagnosis of Friedreich’s ataxia can only be made through genetic testing.
Nerve conduction tests
The nerve conduction velocity (NCV) test measures the speed at which nerve cells transmit impulses (electrical signals). These tests determine whether the speed of nerve impulses is reduced due to nerve cell damage.
The NCV test is performed by placing electrodes on the surface of the skin at various points over a nerve. One electrode delivers small electrical shocks to the nerve and the other records the nerve’s responses. In people with FA, the responses are typically slower than normal due to nerve damage.
An electromyogram is a test that checks the health of the muscles and the nerves that control them. It measures the electrical activity of muscle cells and looks for any muscle damage. It is performed by inserting a needle-like electrode into a muscle and recording the electrical signals generated during muscle contraction.
An electrocardiogram (ECG) is a test that gives a graphic representation of the electrical activity or beat pattern of the heart. It checks for abnormalities in the heartbeat.
An echocardiogram uses sound waves to produce images of the heart. It assesses heart function, measures the thickness of the heart muscle, and determines the size of the heart chambers. It records the position and motion of the heart muscle.
A Holter monitor is a portable device that measures the activity of the heart continuously for 24 to 48 hours. It generates an electrocardiogram (ECG) recording of the heart’s rhythm to look for potentially dangerous irregular heartbeats.
Magnetic resonance imaging
Magnetic resonance imaging (MRI) is an imaging test that uses powerful magnetic waves and radio waves to scan the brain and spinal cord to look for signs of deterioration, especially loss of thickness in the spinal cord. MRI images are useful for ruling out other neurological conditions.
Blood tests and urine analysis
Blood and urine tests check for high blood sugar (glucose) to determine if the individual has diabetes or glucose intolerance. These tests aim to rule out other illnesses that may mimic Friedreich’s ataxia.
Genetic testing analyzes the FXN gene sequence to look for the expanded GAA repeat, which is responsible for the disease. DNA is taken from the blood cells for genetic testing. It is highly reliable and can confirm the genetic abnormality that causes FA.
Genetic testing can also be done before birth to see if an unborn baby is affected by the disease, or to determine a person’s carrier status to help calculate how likely they are to have a child affected by the disease. Two people who are both carriers of the genetic mutation causing Friedreich’s ataxia have a 25 percent chance of having a child affected by the disease.
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