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A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.
- Source :
-
Neuromuscular disorders : NMD [Neuromuscul Disord] 2016 Oct; Vol. 26 (10), pp. 681-687. Date of Electronic Publication: 2016 Jul 25. - Publication Year :
- 2016
-
Abstract
- 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.<br /> (Copyright © 2016. Published by Elsevier B.V.)
- Subjects :
- Arthrogryposis complications
Arthrogryposis diagnostic imaging
Arthrogryposis pathology
Child, Preschool
Glycogen Storage Disease Type IV complications
Glycogen Storage Disease Type IV diagnostic imaging
Glycogen Storage Disease Type IV pathology
Humans
Male
Muscle, Skeletal diagnostic imaging
Muscle, Skeletal pathology
Phenotype
Spinal Diseases complications
Spinal Diseases diagnostic imaging
Spinal Diseases pathology
Arthrogryposis physiopathology
Glucans metabolism
Glycogen Storage Disease Type IV physiopathology
Muscle, Skeletal metabolism
Spinal Diseases physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1873-2364
- Volume :
- 26
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Neuromuscular disorders : NMD
- Publication Type :
- Academic Journal
- Accession number :
- 27546458
- Full Text :
- https://doi.org/10.1016/j.nmd.2016.07.005