Research Article: Acetylcholine receptor antibody-positive myasthenia gravis and Kennedy’s disease overlap syndrome: a case report and literature review
Abstract:
To investigate the clinical characteristics and electromyographic findings of a patient with acetylcholine receptor (AChR) antibody-positive myasthenia gravis (MG) overlapping with Kennedy’s disease (KD), aiming to improve clinicians’ recognition of this rare overlap syndrome and explore potential comorbid mechanisms.
The clinical presentation, laboratory results, and neurophysiological features of one case with AChR antibody-positive MG and KD were analyzed. A literature review of MG overlapping with KD was performed.
Neurophysiological findings and androgen receptor gene testing results were consistent with a diagnosis of KD. Therefore, the patient was definitively diagnosed with overlap syndrome of AChR antibody-positive MG and KD. A literature review identified only four previously reported cases of KD patients exhibiting myasthenic features; however, all were AChR antibody-negative.
Introduction:
Myasthenia gravis (MG) is an autoimmune disease mediated by autoantibodies targeting components of the postsynaptic membrane at the neuromuscular junction (NMJ). Its primary clinical feature is fluctuating weakness of skeletal muscles. Among these, anti-acetylcholine receptor (AChR) antibodies are the most common pathogenic antibodies. Diagnosis relies on typical clinical manifestations, serum antibody detection, a decrement response on low-frequency repetitive nerve stimulation (RNS), and a positive therapeutic…
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