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T.P.41
- Source :
- Neuromuscular Disorders. 24:906
- Publication Year :
- 2014
- Publisher :
- Elsevier BV, 2014.
-
Abstract
- Glycogen storage disease type 3 (GSD3) is an autosomal recessive disorder caused by mutations in the AGL gene coding for the glycogen debranching enzyme, which releases glucose from glycogen. Current therapy is primarily based on dietary modifications but pharmacological approaches are emerging. The pattern of muscle clinical involvement is poorly described in the literature. However, the need for outcome measures is becoming crucial to assess the efficacy of new treatments in future clinical trials. Here we present a cross-sectional study of 17 GSD3 patients aged between 12 and 56 years old. We found that above 20 years of age the Motor Function Measure (MFM) scale total score decreased with increasing age. A negative correlation was found between age and MFM total score (rho = −0.841, p
- Subjects :
- medicine.medical_specialty
Glycogen
business.industry
Outcome measures
Physiology
Glycogen storage disease type III
medicine.disease
Motor function
Surgery
Glycogen debranching enzyme
Clinical trial
chemistry.chemical_compound
Neurology
chemistry
Pediatrics, Perinatology and Child Health
medicine
Neurology (clinical)
Negative correlation
Dietary modifications
business
Genetics (clinical)
Subjects
Details
- ISSN :
- 09608966
- Volume :
- 24
- Database :
- OpenAIRE
- Journal :
- Neuromuscular Disorders
- Accession number :
- edsair.doi...........51884cf1bce12382614bf982af34259b