Join us for an in-depth episode exploring Myasthenia Gravis, an autoimmune disorder characterized by muscle weakness due to antibodies affecting neuromuscular junction transmission. This condition can present with a range of symptoms, often fluctuating in severity and worsening with exertion.
We'll delve into the key ways Myasthenia Gravis manifests:
- Drooping eyelids (Ptosis): Often unilateral or bilateral and sometimes asymmetrical, worsening in the evening or after exertion.
- Double vision (Diplopia): Caused by fatigue of the extra-ocular muscles.
- Difficulties with chewing and swallowing due to involvement of the muscles of mastication and bulbar muscles.
- Weakness in the shoulder and pelvic girdle muscles, leading to difficulty lifting objects or standing.
- Breathing difficulty, which can escalate into a life-threatening Myasthenic crisis involving severe weakness of oropharyngeal, diaphragm, and accessory respiratory muscles.
- A deteriorating voice on counting, reflecting weakness in bulbar muscles involved in phonation.
- Potentially muscle wasting in long-standing disease due to chronic acetylcholine depletion.
We'll also touch upon some of the interesting physical examination findings associated with the condition, such as the positive peek sign and Cogan lid twitch sign, and how reflexes may fatigue on repetitive elicitation.
Understanding the diagnosis involves various investigations:
- Testing for serum anti-Acetylcholine receptor and anti-MuSK antibodies. Anti-AChR antibodies are found in 90% of generalized and 75% of ocular cases, while anti-MuSK antibodies are present in many generalized cases without AChR antibodies.
- Electrophysiological tests like Repetitive Nerve Stimulation (RNS), which may show a decrement in muscle potential.
- Single Fiber Electromyography (SFEMG), highlighted as the most sensitive test, showing variability called "Jitter".
- Bedside tests like the Positive Tensilon test (transient improvement with edrophonium) and the Positive Ice test (relieving ptosis with ice).
- Imaging like Mediastinal CT to check for thymic hyperplasia or thymoma, which are common findings.
- Crucially, we'll discuss the approaches to managing Myasthenia Gravis:
Identifying and treating causes or removing triggers for relapse, such as infections, certain drugs, or stress.
- Using oral anti-Cholinesterases like Pyridostigmine for symptomatic relief by increasing acetylcholine availability.
- Employing Immunosuppressants like Prednisolone, Azathioprine, and Mycophenolate for treatment relapse or lack of response to anti-cholinesterases.
- Considering Thymectomy (surgical removal of the thymus), which can improve prognosis, especially in certain patient groups.
- Utilizing Plasmapheresis and IV Immunoglobulin during exacerbations or a Myasthenic crisis to rapidly remove antibodies.
Tune in to learn more about this complex autoimmune condition, its impact on muscle function, and the strategies used for diagnosis and management!