These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
Pubmed for Handhelds
PUBMED FOR HANDHELDS
Search MEDLINE/PubMed
Title: Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome. Author: Kostera-Pruszczyk A, Opuchlik A, Lugowska A, Nadaj A, Bojakowski J, Tylki-Szymanska A, Kaminska A. Journal: Neuromuscul Disord; 2006 Apr; 16(4):282-5. PubMed ID: 16531044. 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.[Abstract] [Full Text] [Related] [New Search]