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Presymptomatic late-onset Pompe disease identified by the dried blood spot test
- Source :
- Neuromuscular disorders : NMD. 23(1)
- Publication Year :
- 2012
-
Abstract
- Pompe disease or glycogen storage disease type II is an autosomal recessive disorder caused by mutations in the GAA gene leading to muscle weakness. Here we describe a 15 years old presymptomatic patient with normal muscle MRI, unspecific muscle biopsy findings but abnormal acid maltase activity in a dried blood spot test. Sequencing the GAA-gene identified a heterozygous novel splice-site and a heterozygous previously described mutation. The case highlights the variability in clinical phenotype and difficulties to diagnose late-onset Pompe disease. Dried Blood Spot (DBS) might be the most sensitive tool to pick up mildly symptomatic patients.
- Subjects :
- Male
Pathology
medicine.medical_specialty
Heterozygote
Adolescent
Molecular Sequence Data
Late onset
Sensitivity and Specificity
Glycogen storage disease type II
medicine
Humans
Age of Onset
Genetics (clinical)
Muscle biopsy
Splice site mutation
Hematologic Tests
medicine.diagnostic_test
Base Sequence
business.industry
Glycogen Storage Disease Type II
Muscle weakness
Heterozygote advantage
alpha-Glucosidases
medicine.disease
Dried blood spot
Neurology
Pediatrics, Perinatology and Child Health
Asymptomatic Diseases
Mutation
Neurology (clinical)
Age of onset
medicine.symptom
business
Subjects
Details
- ISSN :
- 18732364
- Volume :
- 23
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Neuromuscular disorders : NMD
- Accession number :
- edsair.doi.dedup.....4e75ede20986e4ae6598987b6bb03b35