Wilson's Disease Myopathy: A Case Report and Brief Literature Review

Wilson's disease is a rare genetic disorder of copper toxicity with known systemic, multiorgan effects. The spectrum of symptoms is wide, ranging from relatively common and well-described central neurologic involvement to sparse case reports describing peripheral neuromuscular involvement, particularly as a primary presenting symptom. We describe a case involving a convoluted diagnostic course that ultimately led to a diagnosis of myopathy attributed to newly diagnosed Wilson's disease in a 37-year-old male. We also provide a literature review of similar cases and proposed pathophysiologic mechanisms, consolidating current knowledge on the spectrum of musculoskeletal symptoms associated with Wilson's disease. This case illustrates the importance of considering Wilson's disease in cases of peripheral idiopathic myopathies, especially when comorbidities may be consolidated to suggest a single overarching causative diagnosis.