World Journal of
Pharmaceutical and Life Sciences

MYASTHENIA GRAVIS OF ANTI-MUSK ORIGIN: CASE REPORT

Dr. Houssein Omar*, FZ. Khalil, Omar Moussa, A. Zrara and J El Bakkouri

ABSTRACT

Myasthenia Gravis (MG) is a complex autoimmune neuromuscular disorder. While the classical form associated with anti-acetylcholine receptor antibodies (anti-AchR) is the most common, it is crucial to consider atypical forms, particularly those associated with anti-MuSK antibodies. These atypical forms are often more severe, resistant to treatment, and can present with diverse symptoms, which can be difficult to distinguish from other neuromuscular disorders. In these atypical forms, the detection of anti-MuSK antibodies becomes a key diagnostic element, especially when conventional tests, such as electromyography (EMG), do not yield conclusive results. This article presents a clinical case of a 29-year-old female patient who consulted for fluctuating symptoms, including diplopia, ptosis, exercise-induced fatigue, and swallowing disorders associated with dysphagia and nasal regurgitation. After excluding the presence of a thymoma via thoracic CT scan, a neurophysiological examination (EMG) was performed, but it did not reveal any significant abnormalities. The search for anti-acetylcholine antibodies (anti-AchR) was negative, but testing for anti-MuSK antibodies was positive at a dilution of 1/80, leading to a diagnosis of Myasthenia Gravis associated with anti-MuSK antibodies, a rare form of the disease. The discussion highlights the complexity of diagnosing Myasthenia Gravis, particularly in the atypical forms associated with anti-MuSK antibodies, which can be challenging to diagnose due to symptoms that resemble those of other neuromuscular disorders and negative results from conventional tests. While neurophysiological tests such as EMG are commonly used, they may be normal in atypical forms, making the search for specific antibodies essential for accurate diagnosis. Indirect Immunofluorescence (IFI) thus offers a complementary and more precise method, allowing for better understanding and management of Myasthenia Gravis in its less common forms. Although IFI is a specialized technique requiring specific equipment and expertise, its integration into routine laboratories could significantly improve the diagnosis of atypical forms of the disease, especially in settings where access to other specialized tests is limited. In summary, IFI represents an indispensable tool for the diagnosis of Myasthenia Gravis, particularly in atypical cases where standard tests fail to identify the pathology. Close collaboration between clinicians and laboratory specialists remains essential to ensure prompt and effective management of patients.

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