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Myasthenia Gravis and other Myasthenic syndromes
What are the symptoms?
The condition is characterised by fluctuating weakness that becomes worse with increasing effort. Sometimes it affects only the eye muscles (ocular myasthenia) causing double vision and drooping of the eyelids. More commonly, the condition is generalised with weakness variously affecting not only the eye muscles but also the face, throat, neck, trunk, limbs, and breathing muscles. Some improvement in strength is achieved by rest. Generalised fatigue is not a feature of the condition.
Where muscles associated with swallowing and/or breathing are affected, patients may require assisted ventilation.
The Lambert-Eaton Myasthenic syndrome (LEMS) is also an autoimmune disease, caused by antibodies to calcium channels at the nerve terminal on which acetylcholine release depends. This results in a decrease in the amount of acetylcholine released by the nerve impulse. Patients typically have weakness of the legs and arms and there may also be disturbance of the autonomic nervous system: for example, causing a dry mouth and constipation.
In Congenital Myasthenia (CM) the immunological system is not implicated at all. It is a genetic condition in which a mutation that can occur at many different sites in the genes for the acetylcholine receptor interferes with their function. This causes muscle weakness which may be present at birth or evident soon afterwards.
Background
| Inheritance patterns and prenatal diagnosis 
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