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Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
- Source :
- Arquivos de Neuro-Psiquiatria, Vol 76, Iss 4, Pp 247-251
- Publisher :
- Academia Brasileira de Neurologia (ABNEURO).
-
Abstract
- ABSTRACT Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with “unexplained” limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations. Of the 24 patients with dried blood spots, one patient (4.2%) showed low GAA enzyme activity (NaG/AaGIA: 40.42; %INH: 87.22%). In this patient, genetic analysis confirmed two heterozygous mutations in the GAA gene (c.-32-13T>G/p.Arg854Ter). Our data confirm that clinicians should look for late-onset Pompe disease in patients whose clinical manifestation is an “unexplained” limb-girdle weakness even without vacuolar myopathy in muscle biopsy.
Details
- Language :
- English
- ISSN :
- 16784227 and 0004282x
- Volume :
- 76
- Issue :
- 4
- Database :
- Directory of Open Access Journals
- Journal :
- Arquivos de Neuro-Psiquiatria
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.3f449415aaf24fe4b604f4d1f50130f8
- Document Type :
- article
- Full Text :
- https://doi.org/10.1590/0004-282x20180018