Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome

Neuromuscular Disorders : NMD
Anna Kostera-PruszczykAnna Kaminska

Abstract

The rigid spine syndrome is a disorder characterized by proximal muscle weakness and limitation in flexion of the cervical and dorsolumbar spine. Such phenotype may be caused by a variety of hereditary myopathies. We present the case of a 15-years-old boy with rigid spine syndrome and severe restrictive respiratory changes. Muscle biopsy revealed vacuolar myopathy with excessive deposition of PAS-positive material. Lysosomal acid maltase activity in cultured skin fibroblasts was reduced to 6% of control values. DNA analysis demonstrated novel mutation E888X of acid alpha-glucosidase gene with compound heterozygosity IVS1/E888X, confirming diagnosis of Pompe disease. We conclude that acid maltase deficiency should be considered in the diagnosis of rigid spine syndrome.

References

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Citations

Sep 26, 2012·Neuromuscular Disorders : NMD·Aída AlejaldreAnna Pichiecchio
Jun 6, 2008·Journal of Clinical Neuromuscular Disease·Lara W Katzin, Anthony A Amato
Feb 14, 2014·TheScientificWorldJournal·Gerrit HaakerAlbert Fujak
Dec 17, 2009·Neuromuscular Disorders : NMD·Pascal LaforêtBruno Eymard
Sep 26, 2009·The Journal of Pediatrics·Juan C LlerenaUNKNOWN Brazilian Network for Studies in Pompe Disease (ReBrPOM)
Jul 24, 2007·Neuromuscular Disorders : NMD·Wolfgang Müller-FelberBenedikt Schoser
Dec 17, 2011·Muscle & Nerve·Edward J CuplerUNKNOWN AANEM Consensus Committee on Late-onset Pompe Disease
Jan 19, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela SchüllerBenedikt Schoser
Apr 7, 2016·Autophagy·Vinod K MonyEyleen J O'Rourke
Apr 9, 2016·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Mark TarnopolskyAneal Khan
Apr 8, 2015·Muscle & Nerve·Sankar BandyopadhyayCharles S Specht
Feb 19, 2014·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Francis B PanosyanCharles F Bolton
Oct 4, 2016·Neuromuscular Disorders : NMD·Yim Pui ChuChloe Miu Mak
Nov 22, 2016·Médecine sciences : M/S·Eliana CavassaSusana Quijano-Roy
May 28, 2019·Acta Neurologica Scandinavica·Aleksandra JastrzębskaAnna Kostera-Pruszczyk
Oct 22, 2008·Lancet·Ans T van der Ploeg, Arnold J J Reuser

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