Abstract
Osseo-muscular presentations of Wilson’s Disease (WD) are not common, but have been reported in several studies from different parts of the world. We studied a group of 36 patients who presented with prominent osseo-muscular affection and were ultimately diagnosed with WD. We studied the pattern of osseo-muscular involvement in these patients and also the specific neurologic manifestations that they manifested. We also followed up these patients who were being given optimal dietary and pharmacologic treatment over a period of 2 years to analyze the response of osseo-muscular and neurologic disease to treatment. The results showed that osseo-muscular involvement in WD patients are nonspecific and involve bone demineralization and joint inflammation predominantly. Presence of proximal myopathy with normal creatine phosphokinase level but electrophysiological evidence of myopathy was notable in this study. Neurologic involvement was mainly dystonic and cerebellar with the notable absence of significant tremor. Adequate therapy resulted in salutary improvement or stabilization of both neurologic and osseo-muscular involvement, indicating a possible common toxic effect of excess copper on both neuronal and musculoskeletal tissue. Further studies are required to document the biochemical and toxicologic pathways causing cellular and tissue damage in WD.