History and exam

Key diagnostic factors

common

muscle strength fatigability

The weakness worsens with activity or repetition (fatigable weakness) and improves on rest. Fluctuations often, but not always, show diurnal variation (better in the morning than in the evening).

ptosis

Drooping eyelids and double vision occur early in the majority of patients.[22] The pupils are spared. [Figure caption and citation for the preceding image starts]: Ptosis of the left upper eyelid in a patient with myasthenia gravisForoozan R, Sambursky R. Ocular myasthenia gravis and inflammatory bowel disease: a case report and literature review. Br J Ophthalmol. 2003 Sep;87(9):1186-7. [Citation ends].com.bmj.content.model.Caption@62a94a80

Pulling up on the upper eyelid may induce ptosis in the contralateral lid.

Cooling of the eyelid for 2 to 5 minutes with an ice pack (ice test) improves ptosis in more than 95% of patients.[70][71] It may not improve severe ptosis.

diplopia

Double vision occurs early in the majority of patients.[22]

dysphagia

Difficulties in chewing or swallowing occur when the facial and oropharyngeal muscles are affected. Patients describe being unable to finish chewing their food or complete their meal, and may switch to softer foods. Patients with marked weakness of the tongue may describe difficulty manoeuvring food in their mouth.

dysarthria

Changes in speech occur when the oropharyngeal muscles are affected and there may be a characteristic nasal speech. Tongue and facial weakness may also cause problems with speech.

facial paresis

Changes in expression occur when the facial muscles are affected and there may be a characteristic flattened or transverse smile.

proximal limb weakness

Difficulty in getting out of chairs or climbing stairs, or sustaining proximal upper limb functions. There is no evident muscle wasting. Reflexes are normal. Sensations are intact.

Characteristically the limb weakness worsens with activity or repetition (fatigable weakness) and improves on rest, and fluctuations often, but not always, show diurnal variation (better in the morning than in the evening).

Less commonly, patients may present with predominant or exclusive weakness of the limbs, sometimes called limb-girdle MG.

uncommon

shortness of breath

If shortness of breath becomes severe enough to require mechanical ventilation, the patient is said to be in myasthenic crisis.[23]

Risk factors

weak

family history of autoimmune disorders

The presence of other autoimmune diseases in the patient and family members appears to increase the risk of MG.[55][66]

A study of 462 MG patients in Spain found that 16 cases (3.46%), from 8 unrelated families, were familial.[56]

genetic markers

Specific HLA genes and single nucleotide polymorphisms in other genes involved in the immune system are associated with different clinical presentations of MG.[44][45][46][54][67]

cancer-targeted therapy

Treatment-induced MG has been reported in patients treated for cancer with immune checkpoint inhibitors.[3][57][58][59][60]

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