Neurol. praxi. 2014;15(4):213-215

Late manifestation of Pompe disease

MUDr. Tomáš Kalous

Centrum pro nervosvalová onemocnění, Neurologická klinika 1. LF UK a VFN, Praha

Pompe disease is an autosomal recessive hereditary storage disease caused by mutations in the gene for acid maltase leading to a varying degree of its deficiency, which causes accumulation of glycogen in all organs, especially in striated muscles and in newborns even in the myocardium. It is divided into two basic forms – the infantile and adult. In this article is presented a case report of adult-onset disease with the development of symptoms at the end of the 6th decade of age manifested gradually and progresses to asymmetric girdle weakness of the lower limbs. Due to very low occurrence of the disease and the absence of specific symptoms, usually the correct diagnosis is often complicated and lengthy. As a very simple and reliable test to detect the Pompe disease the dried blood spot test is used. The enzyme replacement therapy has been used as a treatment since 2006.

Keywords: Pompe disease, limb girdle weakness, myopathy, respiratory insufficiency

Published: September 1, 2014  Show citation