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Pathology

Autoimmune mediated neuromuscular disease characterized by fatigable muscle weakness resulting in various symptoms

Aetiology

Autoantibodies to post synaptic acetylcholine receptors or muscle specific tyrosine kinase ris.

Signs

Ptosis, ophthalmoplegia, dysarthria and fatigable weakness

Symptoms

Dysphagia, dysarthria, facial weakness, limb and respiratory muscle weakness. Weakness worse with exercise

Investigations

Bloods: Acetylcholine receptor antibodies, anti-MUSK antibodies
Imaging: Chest X-Ray and CT thorax: presence of thymoma
Tensilon test: May produce a transient improvement in certain symptoms. 
Repetitive Nerve Stimulation: Decrease in muscle response
Pulmonary Function Tests: Assess for respiratory muscle weakness  

Treatment

Medical: Corticosteroids, and acetylcholinesterase inhibitors (neostigmine)
IV immunoglobulins and plasma exchange for myasthenic crisis.
Patients with respiratory decompensation should be managed in ITU as  
they may require respiratory support and FVC monitoring.
Steroid sparing agents used for long-term immunosuppression
Surgery: Thymectomy 

Prognosis

Patients usually have a normal life expectancy with treatment
Respiratory failure, aspiration pneumonia

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Key References

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