Loading…

Severe asymmetric muscle weakness revealing glycogenin‐1 polyglucosan body myopathy

We recently identified polyglucosan body myopathy-2, a pure skeletal myopathic form of glycogen storage disease type XV, caused by glycogenin-1 deficiency, the primingenzyme of glycogen synthesis. To date 22 patients have been reported. They have juvenile to late-onset clinical symptoms with a varia...

Full description

Saved in:
Bibliographic Details
Published in:Muscle & nerve 2018-05, Vol.57 (5), p.E122-E124
Main Authors: Stojkovic, Tanya, Chanut, Anaïs, Laforêt, Pascal, Madelaine, Angeline, Petit, François, Romero, Norma B., Malfatti, Edoardo
Format: Article
Language:English
Subjects:
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We recently identified polyglucosan body myopathy-2, a pure skeletal myopathic form of glycogen storage disease type XV, caused by glycogenin-1 deficiency, the primingenzyme of glycogen synthesis. To date 22 patients have been reported. They have juvenile to late-onset clinical symptoms with a variable distribution of muscle weakness. Muscle biopsies show the accumulation of polyglucosan bodies, consisting of hyper-intense periodic acid-Schiff (PAS)-positive material with a variable resistance to alpha-amylase treatment. Although cardiacinvolvement has been reported in 4 patients with glycogenin-1 gene (GYG1) mutations, these patients did not show any clear evidence of skeletal muscle disease.Here, we describe a 63-year-old woman born to consanguineous French parents, who developed right shoulder pain, difficulty climbing stairs and left foot weakness causing stumbling episodes at 46 years of age. Over time, the patient reported increasing difficulty elevating the right arm. At 61 years of age she also developed slight difficulty with left shoulder movement, and more recently she reported rare forearm fasciculations and nocturnal cramps in her thighs, calves, and toes.
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.26030