An unusual presentation of Myasthenia Gravis (MG) treated effectively at Aster Clinic, Al Qusais, Dubai

Myasthenia Gravis (MG) is more prevalent in women than in men under 50 years of age (7:3), while in those over 50 years, men have a higher risk (3:2) (1).

Dubai, November 16, 2023

A remarkable medical case at Aster Clinic, Al Qusais, Dubai, has brought to light an unconventional presentation of Myasthenia Gravis (MG), which was effectively diagnosed and treated by a dedicated medical team led by Dr. Akta Trivedi, Specialist Neurologist. The case, involving a 38-year-old Asian female with a unique and atypical presentation of Myasthenia Gravis, highlights the importance of early diagnosis and prompt treatment.

The patient, a left-handed individual born of a non-consanguineous marriage, presented with a medical history of neck and lower back pain that had been gradually progressing and radiating to both upper and lower limbs. The patient also experienced strain in carrying out daily basic activities, along with the drooping of both eyelids over the past 6 months. The symptoms showed asymmetric involvement of limbs and mildly fluctuating limb weakness, without any family history of medical illness.

The patient’s journey began with an evaluation by Dr. Rajesh Vijay Kumar, Internal Medicine Specialist at Aster Clinic, Al Nahda Sharjah and was later referred to Dr. Akta Trivedi, Specialist Neurologist at Aster Clinic, Al Qusais, Dubai for a detailed neurological assessment. During this assessment, it was discovered that the patient had fatiguable weakness in both arms, with a left-sided predominance. The cognition, coordination, sensory system examination, deep tendon reflexes, and bilateral plantar reflexes were normal. Given the fatiguable muscle weakness and the fluctuating tendency of limb weakness, the possibility of a neuromuscular junction disorder was considered.

To reach a diagnosis, preliminary blood investigations and X-rays of the cervical and lumbar spine were conducted to rule out inflammatory causes of spondylosis, all of which returned normal results. The patient was initially started on symptomatic treatment, including anti-inflammatory medications and multivitamins. As the symptoms worsened, a secondary workup was initiated, including tests for serum ANA profile, RA factor, serum uric acid, and serum TSH, all of which yielded negative results. However, the Acetylcholine Receptor (AChR) antibody test returned positive (8 nmol/l), and the Nerve Conduction Velocity (NCV) test with Repetitive Nerve Stimulation showed a positive decremental response, suggestive of a neuromuscular junction disorder.

Based on the clinical features and investigations, a diagnosis of Myasthenia Gravis was confirmed. The patient was subsequently treated with Tablet Pyridostigmine 60mg/day, leading to a significant clinical response with improved muscle strength and overall quality of life. The medication dose was gradually titrated as per tolerability until a maintenance dose was achieved.

Dr. Akta Trivedi, the Neurology specialist at Aster Clinic, Al Qusais, Dubai, shared her insights on this unusual case, stating, “While the fluctuation of symptoms is considered a hallmark of MG, there are cases in which this phenomenon is either subtle or absent, possibly delaying the diagnosis. Given the paucity of literature regarding characteristics of patients with MG presenting without or mildly fluctuating symptoms, this is an avenue worth investing in to characterize this population better and expedite diagnosis and treatment.”

Dr. Rajesh Vijay Kumar, Internal Medicine Specialist at Aster Clinic, Al Nahda Sharjah, added, “Collaboration and communication among medical specialists are crucial in managing complex cases like this. We need to be prepared for atypical presentations and work together to provide the best care for our patients.”

Myasthenia Gravis (MG) is an autoimmune neuromuscular disorder characterized by muscle weakness and rapid muscle fatigue. Typically, MG presents in two primary forms: Ocular, which is restricted to the eyelids and extraocular muscles and may be asymmetrical, and generalized, which involves the bulbar, respiratory muscles, and limbs to varying degrees but typically maintains symmetry in the affected areas. Ocular muscle weakness is by far the most common initial symptom of MG, occurring in approximately 85% of patients. Generalized progression involving other muscle groups, as seen in this unique case, develops in about 50% of these patients within two years (2).

This case illustrates the importance of recognizing atypical presentations of Myasthenia Gravis and highlights the need for a thorough diagnostic workup to ensure timely and effective treatment.