Glycogen storage disease type II other diagnostic studies: Difference between revisions
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{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Anmol}} | ||
==Overview== | ==Overview== | ||
Other diagnostic studies for glycogen storage disease type 2 (GSD type 2) include [[electromyography]] and [[Molecule|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:<ref name="pmid16702877">{{cite journal| author=ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ et al.| title=Pompe disease diagnosis and management guideline. | journal=Genet Med | year= 2006 | volume= 8 | issue= 5 | pages= 267-88 | pmid=16702877 | doi=10.109701.gim.0000218152.87434.f3 | pmc=3110959 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16702877 }} </ref><ref name="pmid10078739">{{cite journal| author=Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH| title=A diagnostic protocol for adult-onset glycogen storage disease type II. | journal=Neurology | year= 1999 | volume= 52 | issue= 4 | pages= 851-3 | pmid=10078739 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10078739 }} </ref> | ||
**[[Myopathy]] | |||
* | ===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.<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: | |||
**Single-[[gene]] testing | |||
**Targeted analysis for pathogenic variant | |||
**Multi-[[gene]] panel | |||
* | |||
** | |||
** | |||
** | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} |
Latest revision as of 19:41, 23 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
|doi=
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/