Open AccessCalf muscle hypertrophy in late onset pompe's disease
Author(s) -
Mani Me,
P Sreedharan Roopch,
K Abdulkhayar Kabeer,
C Velayudhan Shaji
Publication year - 2016
Publication title -
archives of medicine and health sciences
Language(s) - English
Resource type - Journals
eISSN - 2321-6085
pISSN - 2321-4848
DOI - 10.4103/2321-4848.196188
Subject(s) - medicine , muscle hypertrophy , myopathy , glycogen storage disease type ii , glycogen storage disease , disease , muscle weakness , glycogen , endocrinology , weakness , pathology , enzyme replacement therapy , anatomy
Pompe's disease (glycogen storage disease Type 2, acid maltase deficiency) is characterized by a progressive myopathy due to accumulation of glycogen in skeletal muscles in addition to various tissues. Late onset Pompe's disease is characterized by slowly progressive proximal myopathy with respiratory muscle involvement. We present the case of a 16-year-old female presenting with proximal muscle weakness with calf hypertrophy diagnosed to be late onset Pompe's disease. This case highlights the need to consider Pompe's disease in the differential diagnosis of calf muscle hypertrophy, in patients with proximal myopathy even without overt respiratory muscle involvement