POMPE DISEASE: A DIFFERENTIAL DIAGNOSIS OF MYOPATHY IN THE ELDERLY

ABSTRACT: Pompe disease is a genetic disorder inherited in an autosomal recessive manner, related to dysfunction of the enzyme acid alpha-glucosidase. It presents in two classical forms: the infantile-onset form, for patients who develop symptoms before the age of 2, and the late-onset form, for those who begin to show symptoms after this age. The childhood onset tends to be more severe and fatal, whereas the late-onset form manifests a myopathic phenotype, with axial and respiratory involvement. Diagnosis should be established by the evidence of acid alpha-glucosidase dysfunction in blood samples or through genetic testing. Enzyme replacement therapy is the current pharmacological treatment for this condition. In this article, we describe the case of an elderly woman who developed weakness in the lower limbs in the 7th decade of life, and after etiological investigation, a compound heterozygous mutation in the gene encoding acid alpha-glucosidase (GAA) was demonstrated. This highlights the need for awareness of metabolic causes of myopathies in elderly patients who present late-onset proximal limb weakness, with respiratory involvement.