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A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

Journal article
Authors E. Malfatti
C. Barnerias
Carola Oldfors Hedberg
C. Gitiaux
A. Benezit
Anders Oldfors
R. Y. Carlier
S. Quijano-Roy
N. B. Romero
Published in Neuromuscular Disorders
Volume 26
Issue 10
Pages 681-687
ISSN 0960-8966
Publication year 2016
Published at Institute of Biomedicine, Department of Pathology
Pages 681-687
Language en
Keywords Branching enzyme deficiency, Glycogen storage disorders, Glycogenosis type IV, Metabolic myopathies, Polyglucosan
Subject categories Clinical Medicine


Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness. A 3-year-old boy presented with arthrogryposis, motor developmental delay, weakness, and rigid spine. Whole body MRI revealed fibroadipose muscle replacement but sparing of the sartorius, gracilis, adductor longus and vastus intermedialis muscles. Polyglucosan bodies were identified in muscle, and GBE1 gene analysis revealed two pathogenic variants. We describe a novel neuromuscular GSD IV phenotype and confirm the importance of muscle morphological studies in early onset neuromuscular disorders. © 2016

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