Jaslok Hospital and Research Centre successfully resolved a complex neurological case involving a 35-year-old nurse diagnosed with myasthenia gravis based on a positive antibody test and started on long-term medication. Expert reassessment and advanced neurophysiological testing overturned the diagnosis, safeguarding the patient from unnecessary immunosuppressive therapy.
The patient from Navi Mumbai presented with drooping of her left eyelid (ptosis) that had persisted for several months. With a prior diagnosis of hyperthyroidism already complicating her plans for pregnancy, she initially consulted a neuro-ophthalmologist and later a neurologist at a healthcare facility in Mumbai. A blood test for acetylcholine receptor (AChR) antibodies returned positive, leading to a diagnosis of myasthenia gravis. She was started on steroids and pyridostigmine, medications that carry significant long-term implications, especially for young women.
Already dealing with the emotional and physical burden of hyperthyroidism, the patient experienced growing anxiety after learning about myasthenia gravis and the possibility of lifelong immunosuppressive therapy. On the advice of a close friend, she sought a second opinion at Jaslok Hospital, where she consulted Dr Vinaya Bhandari, Consultant Neurology & Neuromuscular Disorder Specialist.
At Jaslok Hospital, a thorough re-evaluation was undertaken. An MRI of the brain ruled out a central nervous system cause for the eyelid drooping. Advanced nerve and muscle testing was then performed. Both repetitive nerve stimulation and, critically, single-fibre electromyography (SFEMG), the most sensitive diagnostic test for myasthenia gravis, were found to be completely normal.
“Single-fiber EMG is the most sensitive test available for diagnosing myasthenia gravis, in patients presenting with isolated eye symptoms such as ptosis, double vision, difficulty swallowing, chewing, change in voice/speech, fatigue. A normal SFEMG in a clinically affected muscle makes myasthenia gravis extremely unlikely,” explained Dr Vinaya Bhandari, Consultant Neurology & Neuromuscular Disorder Specialist, Jaslok Hospital and Research Centre.
Based on these findings, myasthenia medications were discontinued. A detailed clinical history revealed that the patient had been frequently rubbing her left eyelid due to persistent itching. This led to a diagnosis of traumatic aponeurotic ptosis, a mechanical eyelid condition unrelated to nerve or muscle disease.
The patient was reassured that while AChR antibodies are strongly associated with myasthenia gravis, false-positive results may occur, particularly in the presence of other autoimmune conditions such as thyroid disease. Antibody testing alone should not determine long-term treatment decisions. In situations where the clinical diagnosis is uncertain, electrophysiological confirmation with repetitive nerve stimulation and/or single-fibre EMG is recommended prior to initiating immunosuppressive therapy, to ensure diagnostic accuracy and avoid unnecessary exposure to treatment-related risks.
Summarizing the case, Dr Vinaya Bhandari, Consultant Neurology and Neuromuscular Disorder Specialist at Jaslok Hospital & Research Centre, stated, “While a positive AChR antibody test supports the diagnosis of myasthenia gravis, it should not be interpreted in isolation. The diagnosis must be established through correlation with clinical features and objective neurophysiological evidence. In situations where the diagnosis is uncertain, electrophysiological testing such as repetitive nerve stimulation and particularly single-fibre EMG should be performed whenever feasible before initiating immunosuppressive therapy.”
Adding to this, Dr Milind Khadke, Chief Medical Officer, Jaslok Hospital & Research Centre, emphasized the hospital’s commitment to precise and patient-centric care. “This case reinforces the importance of evidence-based diagnosis and multidisciplinary evaluation. At Jaslok Hospital, our focus is not only on treating disease but on ensuring that patients are protected from unnecessary therapies that can significantly impact their quality of life, long-term health, and personal goals such as fertility.”
The case serves as an important reminder for clinicians and patients alike: accurate diagnosis, supported by advanced neurophysiological testing, is essential before labelling a patient with a chronic neurological disorder and initiating lifelong treatment.
