Clinical Manifestation and Diagnosis of MG-Dr. Pasnoor - Clinical Manifestation and Diagnosis of MG

Dr. Pasnoor - Clinical Manifestation and Diagnosis of MG

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Myasthenia gravis (MG) is a rare disorder that affects neuromuscular synaptic transmission. It has various clinical manifestations, including trouble swallowing, eyelid drooping, speech difficulty, and generalized weakness. MG can be classified as autoimmune, paraneoplastic, congenital, or medication-related. It is an autoimmune disease, characterized by the presence of antibodies that interfere with the function of acetylcholine receptors in the neuromuscular junction. The main clinical hallmark of MG is fluctuating fatigability, and the initial symptoms often involve the eyes, followed by weakness in the bulbar and extremity muscles. Thymoma, a tumor in the thymus, is found in 15% of MG cases and is more common in patients over 30 years old.<br /><br />MG can be classified into different types based on clinical, epidemiological, immunological, genetic, and thymus pathology criteria. These types include early-onset MG, late-onset MG, pure ocular MG, thymoma-associated MG, and MG associated with specific antibodies such as anti-AChR, anti-MuSK, and anti-LRP4 antibodies. In pediatric cases, MG can present as congenital myasthenic syndrome, transient neonatal myasthenia, or juvenile MG.<br /><br />There are various assessment tools used to evaluate MG, including the MG Activities of Daily Living (MGADL), MG Manual Muscle Testing (MGMMT), MG Composite, Quantitative MG score (QMG), and SF-36. The natural history of MG involves progression from ocular to generalized disease in the majority of cases within the first few years. Myasthenic crisis, a severe weakness that may require intubation, occurs in 20% of MG patients at some point in their lives.<br /><br />Refractory MG refers to cases that do not respond adequately to conventional therapies or have severe side effects. Mortality rates in MG have decreased significantly over the years, thanks to mechanical ventilation and the use of steroids. However, quality of life can still be impacted, and patients may experience various comorbidities and associated conditions. Overall, the management and treatment of MG require a comprehensive approach to address the specific manifestations and needs of each individual patient.

Keywords

Myasthenia gravis

neuromuscular synaptic transmission

autoimmune

thymoma

specific antibodies

pediatric cases

assessment tools

myasthenic crisis

refractory MG

management