Can be delayed by fluctuating symptoms

Myasthenia gravis (MG) can be difficult to diagnose because weakness is a common symptom of many disorders. Add to this the fact that symptoms may be vague, fluctuate or only affect certain muscles. And MG doesn’t “perform” on demand; the eyelid that droops at 7 p.m. may not show for a 9 a.m. doctor appointment. Identification may be complicated further when more than one autoimmune disorder is involved. It’s not unusual for a diagnosis of MG to be delayed – sometimes up to two years.

These steps may be taken to confirm a diagnosis of MG:

  • Neurological exam: This may include testing your reflexes, muscle strength, muscle tone, senses of touch and sight, gait, posture, coordination, balance and mental skills. Impaired eye movement or muscle weakness may prompt a doctor to evaluate further.
  • Blood tests to measure myasthenic antibodies in the blood:  About 80 to 85 percent of MG patients test positive for AChR antibodies – antibodies to the acetylcholine receptor – in their blood. A positive antibody supports the diagnosis of MG, but a higher number or titer of this antibody does not correlate with more severe disease.  Another 5 to 10 percent are found to have antibodies to muscle-specific serum kinase (MuSK), a protein that helps organize ACh receptors on the muscle cell surface. This antibody also can be tested for in the blood. A blood test for the LRP4 antibody is not yet commercially available. Some MG patients have normal antibody levels, especially with the restricted ocular form of MG.
  • Ice Test:  Cooling of muscles affected by MG may transiently improve weakness. This test is simple and easily performed on a droopy eyelid, often helping to confirm a diagnosis of MG.
  • Edrophonium Test:  A short-acting drug called edrophonium chloride (Tensilon®) is given intravenously. If weakness, especially in the eye muscles, briefly and temporarily improves, it indicates you may have MG. The drug does this by blocking an enzyme that breaks down acetylcholine, the chemical that transmits signals from nerve endings to muscles. A trial use of oral pyridostigmine bromide (Mestinon) is an alternative approach.
  • Nerve conduction studies/repetitive nerve stimulation:  A small electrical impulse is applied to a nerve resulting in muscle contraction. Muscles in patients with MG fatigue easily and don’t bounce back from repeated stimulation as well as those of a healthy person.
  • Single fiber electromyography (EMG):  A sterile needle electrode is inserted into a muscle which the patient gently contracts or activates.  Computer analysis of several recorded electrical signals in that muscle may show abnormal neuromuscular transmission, found in MG as well as some other neuromuscular disorders.
  • Imaging:  Computed tomography (CT) or magnetic resonance imaging (MRI) is often done to identify an abnormal thymus gland or a thymus gland tumor (thymoma).

There is no one foolproof method of diagnosis for MG. Sometimes test results are inconclusive, even when your examination and story seem to point to a diagnosis of the disease. If this happens, it may be appropriate to track symptoms and repeat testing over time until your diagnosis can be clarified.

This information was abstracted from these sources:

The Myasthenia Gravis Fact Sheet published by the National Institute of Neurological Disorders
(updated February 19, 2016) and retrieved April 27, 2016.

Reviewed by the Conquer MG Medical Advisory Board, April 2016.
Unless otherwise stated, the information provided here is of a general nature, composed by non-medical personnel. It is meant to be accurate and helpful advice for MG patients. It is not intended to be medical opinion, nor is it a substitute for personal professional medical care.