# A Rare Case of Myasthenia Gravis With Underlying Aldolase A Deficiency: Diagnostic and Therapeutic Challenges

## TL;DR

A young woman's muscle pain and weakness were caused by two rare conditions: myasthenia gravis and aldolase A deficiency, highlighting the need to consider both autoimmune and metabolic disorders in similar cases.

## Contribution

This paper presents a rare case of myasthenia gravis with aldolase A deficiency, emphasizing the diagnostic and therapeutic challenges of overlapping neuromuscular conditions.

## Key findings

- The patient had seropositive myasthenia gravis and aldolase A deficiency, both contributing to her symptoms.
- The case highlights the importance of considering both autoimmune and metabolic causes in unexplained muscle breakdown.
- Comprehensive metabolic and serologic evaluations were crucial for diagnosing the dual condition.

## Abstract

We report one of the first documented cases globally of a 24-year-old female presenting with recurrent episodes of muscle pain, weakness, and rhabdomyolysis. Although she initially improved with conservative management, her symptoms recurred, warranting further investigation. Comprehensive serologic and metabolic evaluations revealed a rare dual diagnosis of seropositive myasthenia gravis (MG) and aldolase A deficiency. MG, an autoimmune neuromuscular junction disorder, contributed to her characteristic diurnal fatigue and acetylcholine receptor antibody positivity, while aldolase A deficiency, a rare metabolic myopathy, was responsible for impaired glycolysis and exertional rhabdomyolysis. This case underscores the importance of considering overlapping autoimmune and metabolic neuromuscular conditions in young adults with unexplained muscle breakdown.