METABOLIC MYOPATHIES II

0

Glycogen storage disease type (GSD) IV is an autosomal recessive disorder of carbohydrates caused by a deficiency of amylo-1-4 glycanoglycosyltransferase, leading to the accumulation of poorly branched amylopectin-like polysaccharides in various tissues including the liver, heart and neuromuscular system. The typical presentation is described by failure to thrive, hepatosplenomegaly and lethal liver cirrhosis. The neuromuscular phenotype of GSD IV has a broad range of severity. Three different types are known: 1) antenatal onset, fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) and perinatal death, 2) severe congenital myopathy and 3) delay of motor milestones and proximal muscular weakness.

Read More...

Leave A Reply