The clinical and immunological features of myasthenia gravis with anti-musk antibodies

Abstract

Introduction. Myasthenia gravis is an autoimmune disorder of the neuromuscular junction, caused by autoantibodies synthesized against AChR, MuSK or LRP4. There is also a seronegative form, where antibodies are not detected. The disease is more prevalent in women, especially after the age of 40, but it tends to have a milder course in women compared to men. The mortality rate usually does not exceed 5-9%. Frequently, the disease begins with ocular manifestations such as ptosis and diplopia, only occasionally initiating with bulbar symptoms. However, the primary symptom remains muscle weakness, which is detected in the majority of patients. Case statement. A 30-year-old female patient presented with the following complaints: muscle weakness in the hands, speech and swallowing disturbances. She has considered herself ill since 2014, following childbirth. She was consulted by a neurologist in 2015 and 2016. In 2018, a CT scan of the mediastinum revealed a persistent thymus, leading to the following diagnosis: Myasthenia gravis, with a relapse characterized by pronounced muscular fatigability, accentuated in the muscles of mastication and nasopharynx and mild oculomotor disorders. The patient was prescribed pyridostigmine 60 mg three times a day and in 2019, she underwent thymectomy. The patient’s neurological status includes diminished convergence, slightly reduced pharyngeal reflex and reduced muscle strength in the orbital muscles. A prozerin test was conducted and the patient’s condition improved, indicating a positive response. The diagnosis: Myasthenia gravis, generalized form, subcompensated, post-thymectomy state in 2019. Discussions. In this case, the patient followed the doctor’s instructions, undergoing treatment with prozerin. The patient responded positively to the treatment, but despite the exacerbation of myasthenia gravis, her condition deteriorated, indicating the unpredictable course of the disease. Conclusion. The presented case emphasizes the imperative of ongoing investigation into myasthenia gravis and the need to elucidate treatment methods to prevent exacerbations and control the unpredictable evolution of the disease. Additionally, a personalized approach and careful monitoring of myasthenia gravis patients are necessary to adapt treatment based on the disease’s progression. It is evident that the correct diagnosis of the disease’s form is essential for establishing an appropriate treatment plan, underscoring the importance of research and therapeutic developments in this field. by autoantibodies synthesized against AChR, MuSK or LRP4. Th ere is also a seronegative form, where antibodies are not detected. The disease is mor e prevalent in women, especially after the age of 40, but it tends to have a milder course in women compar ed to men. The mortality rate usually does not exceed 5-9%. Frequently, the disease begins w ith ocular manifestations such as ptosis and diplopia, only occasionally initiating with bul bar symptoms. However, the primary symptom remains muscle weakness, which is detected in the majority of patients. Case statement. A 30-year-old female patient presented with the followi ng complaints: muscle weakness in the hands, speech and swallowing disturbances. Sh e has considered herself ill since 2014, following childbirth. She was consulted by a neurologist i n 2015 and 2016. In 2018, a CT scan of the mediastinum revealed a persistent thymus, l eading to the following diagnosis: Myasthenia gravis, with a relapse characterized by pronounc ed muscular fatigability, accentuated in the muscles of mastication and nasopharynx and mild oculo motor disorders. The patient was prescribed pyridostigmine 60 mg three times a day and in 2019, she underwent thymectomy. The patient’s neurological status includes diminished convergence, slightly reduced pharyngeal reflex and reduced muscle strength in the orbital muscles. A prozer in test was conducted and the patient’s condition improved, indicating a positive response. The diagnosis: Myasthenia gravis, generalized form, subcompensated, post-thymectomy state in 2019. Discussions. In this case, the patient followed the doctor’s instructi ons, undergoing treatment with prozerin. The patient responded positively to the treatmen t, but despite the exacerbation of myasthenia gravis, her condition deteriorated, indicating the unpredictable course of the disease. Conclusion. The presented case emphasizes the imperative of ongoing inve stigation into myasthenia gravis and the need to elucidate treatment methods to prevent exacerbations and control the unpredictable evolution of the disease. Additi onally, a personalized approach and careful monitoring of myasthenia gravis patients are neces sary to adapt treatment based on the disease’s progression. It is evident that the correct di agnosis of the disease’s form is essential for establishing an appropriate treatment plan, underscoring the i mportance of research and therapeutic developments in this field.