Proximal myopathy in an untreated case of Wilson's disease - A case report.

Abstract

Wilson's disease (WD) is a genetic disease of autosomal recessive inheritance resulting in the mutation of the adenosine triphosphate 7B (ATP7B) gene. The estimated prevalence of WD is one in 30,000 to 100,000, with a wide age of presentation between 3 to 55 years. Initial manifestations of WD are mainly neurologic, hepatic, or a combination of both. Proximal myopathy, however, is a rare presenting feature, with only a limited number of cases described in the literature. Presenting features such as rhabdomyolysis, hypokalemic muscle paralysis, and spasmodic contractions have been documented, but, as per our knowledge, only one case of proximal myopathy as the initial complaint has been reported. The underlying mechanism of this phenomenon in untreated cases remains unclear and warrants further investigation. We report the case of a 9-year-old female who presented with difficulty in walking, difficulty standing from a sitting position, and jaundice, subsequently diagnosed as WD with proximal myopathy.