Confirming a diagnosis of myasthenia gravis can take a long time because the condition is rare and muscle weakness can be a symptom of many conditions.
Your GP will look at your medical history and your symptoms. They may suspect myasthenia gravis if your eye movements are impaired or you have muscle weakness but are still able to feel things.
However, as these symptoms are common in a number of different conditions, you'll need to have some tests before a diagnosis of myasthenia gravis can be confirmed.
If your GP thinks you may have myasthenia gravis, they'll refer you to a neurologist (specialist in nervous system disorders), or sometimes an opthalmologist (eye specialist). Some tests can be carried out to confirm whether or not you have the condition.
A number of tests can be used to help diagnose myasthenia gravis.
A special type of Blood tests can be used to detect the antibodies (proteins) that block or damage the muscle receptors. Most people with myasthenia gravis have an abnormally high number of acetylcholine receptor antibodies.
The antibody blood tests are quite specific, which means they're almost never detected in patients who don't have myasthenia gravis.
However, in people whose symptoms are limited to the eyes, (ocular myasthenia), high levels of antibodies may only be detected in around half of cases.
A small amount people with myasthenia gravis may test negative for acetylcholine receptor antibodies but have anti-MuSK antibodies instead.
Electromyography is a procedure that can be used to identify communication problems between the nerves and muscles. It involves inserting a needle electrode through the skin into the muscle.
This produces an electrical recording of the muscle activity. If you have myasthenia gravis, your muscles won't respond well to nerve stimulation.
Repeated nerve stimulation can be used to test for muscle fatigue. In myasthenia gravis, the transmission of signals between the nerve and muscle declines during repeated stimulation.
Single-fibre EMG is the most sensitive electrical test for detecting disruption of the signal between the nerve ending and the muscle membrane (as in myasthenia gravis). It usually involves taking a recording from a very small needle in one of the muscles around the eye, forehead, or sometimes in the forearm.
An edrophonium test involves having an injection of a type of medication called edrophonium chloride. Edrophonium chloride prevents the substance acetylcholine from being broken down, which temporarily increases the amount of acetylcholine around the muscle.
In people with myasthenia gravis, the increased amount of acetylcholine produces a sudden but temporary improvement in muscle power. However, this won't usually occur in people with other causes of muscle weakness.
There are significant side effects associated with the edrophonium test, such as heart rate and breathing problems, that may occur during the investigation. For this reason, the test is rarely performed.
This test should only be considered if myasthenia gravis is still suspected despite negative blood and electrical tests. If performed, the test should only be carried out by experienced neurology doctors in specialist centres with resuscitation equipment available.
Imaging tests, such as a CT scan or MRI scan , are sometimes used to detect an enlarged thymus gland or a tumour on the thymus gland.
Myasthenia gravis is a rare long-term condition that causes certain muscles in the body to become weak.
Muscle weakness is the main symptom of myasthenia gravis. The eye and facial muscles and those that control swallowing are commonly affected.
Myasthenia gravis is caused by a problem with the transmission of nerve signals to the muscles.
Confirming a diagnosis of myasthenia gravis can take a long time because the condition is rare and muscle weakness is a symptom of many different conditions.
There is no cure for myasthenia gravis, but treatments are available to help control the symptoms.