The eight syndromic patients were: one patient with glycogen storage disease XV (GYG1); one patient with Becker muscular dystrophy (DMD); one patient with polycystic kidney disease (PKD); one patient with glycogen storage disease IV (GBE1) and four patients with systemic manifestations of transthyretin amyloidosis (TTR). Here, TTR is linked to glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form.