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Myasthenia gravis is the most common autoimmune disease affecting the neuromuscular junction and is characterised by painless fatigable muscle weakness. It is caused by autoantibodies against neuromuscular junction proteins, either the nicotinic acetylcholine receptor (AChR) or the muscle specific tyrosine kinase (MuSK). Mutations in neuromuscular junction proteins cause congenital myasthenic syndromes. Other antibody mediated conditions affecting the neuromuscular junction include Lambert Eaton myasthenic syndrome and neuromyotonia.
Epidemiology of myasthenia gravis
Myasthenia gravis affects approximately 100 patients per million population.
It has a bimodal age of onset—early and late onset myasthenia gravis.
Early onset myasthenia gravis typically affects women less than 40 years of age whereas the later onset form is more common in older men.
With improved diagnosis and survival, the prevalence is increasing, especially in the elderly.
Neuromuscular physiology (fig 1)
Acetylcholine is the key neurotransmitter at the interface between the presynaptic nerve terminal and postsynaptic muscle membrane.
Nerve impulses reaching the synapse open voltage gated calcium channels (VGCC) causing influx of calcium ions. This induces fusion of the acetylcholine (ACh) vesicles to the synaptic membrane and release of neurotransmitter.
Binding of acetylcholine to nicotinic AChRs at the postsynaptic membrane leads to short lived openings of their intrinsic ion channels. The resulting cation entry depolarises the muscle membrane locally; if that reaches a critical threshold, it opens voltage gated sodium channels, generating an action potential …
Funding SJ has held a neuromuscular fellowship at the University of Oxford funded by the Muscular Dystrophy Campaign/Myasthenia Gravis Association. SV has been in receipt of a Patrick Berthoud Clinical Fellowship.
Competing interests None.
Provenance and peer review Commissioned; externally peer reviewed.