Glycogen storage disease type II other diagnostic studies: Difference between revisions
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*[[Molecular]] [[genetic testing]] shows biallelic [[pathogenic]] variants in gene responsible for deficiency of lysosomal acid alpha glucosidase enzyme (GAA) for patients with GSD type 2.<ref>Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/</ref> | *[[Molecular]] [[genetic testing]] shows biallelic [[pathogenic]] variants in gene responsible for deficiency of lysosomal acid alpha glucosidase enzyme (GAA) for patients with GSD type 2.<ref>Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/</ref> | ||
*Methods for [[molecular]] [[genetic testing]] include: | *Methods for [[molecular]] [[genetic testing]] include: | ||
**Single-gene testing | **Single-[[gene]] testing | ||
**Targeted analysis for pathogenic variant | **Targeted analysis for pathogenic variant | ||
**Multi-gene panel | **Multi-[[gene]] panel | ||
==References== | ==References== |
Revision as of 20:25, 22 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Other diagnostic studies for glycogen storage disease type 2 (GSD type 2) include electromyography and molecular genetic testing. Electromyography findings suggestive of GSD type 2 include myopathy.
Other Diagnostic Studies
Electromyography
- Electromyography may be helpful in the diagnosis of glycogen storage disease type 2 (GSD type 2). Findings suggestive of GSD type 2 include:[1][2]
Molecular genetic testing
- Molecular genetic testing shows biallelic pathogenic variants in gene responsible for deficiency of lysosomal acid alpha glucosidase enzyme (GAA) for patients with GSD type 2.[3]
- Methods for molecular genetic testing include:
References
- ↑ ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ; et al. (2006). "Pompe disease diagnosis and management guideline". Genet Med. 8 (5): 267–88. doi:10.109701.gim.0000218152.87434.f3 Check
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value (help). PMC 3110959. PMID 16702877. - ↑ Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH (1999). "A diagnostic protocol for adult-onset glycogen storage disease type II". Neurology. 52 (4): 851–3. PMID 10078739.
- ↑ Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/