Glycogen storage disease type II epidemiology and demographics: Difference between revisions
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{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Anmol}} | ||
==Overview== | ==Overview== | ||
The incidence of glycogen storage disease type 2 (GSD type 2) is approximately 2.5 per 100,000 individuals. Patients of all age groups may develop glycogen storage disease type 2. However, glycogen storage disease type 2 most commonly affects individuals younger than 1 year of age. Glycogen storage disease type 2 usually affects individuals of the Caucasian race. | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
===Incidence=== | ===Incidence=== | ||
*The incidence of glycogen storage disease type 2 (GSD type 2) is approximately 2.5 per 100,000 individuals.<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> | |||
*The incidence of glycogen storage disease type 2 (GSD type 2) is approximately 11.5 per 100,000 individuals in the state of Illinois, United States.<ref name="pmid28728811">{{cite journal| author=Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR et al.| title=Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. | journal=J Pediatr | year= 2017 | volume= 190 | issue= | pages= 130-135 | pmid=28728811 | doi=10.1016/j.jpeds.2017.06.048 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28728811 }} </ref> | *The incidence of glycogen storage disease type 2 (GSD type 2) is approximately 11.5 per 100,000 individuals in the state of Illinois, United States.<ref name="pmid28728811">{{cite journal| author=Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR et al.| title=Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. | journal=J Pediatr | year= 2017 | volume= 190 | issue= | pages= 130-135 | pmid=28728811 | doi=10.1016/j.jpeds.2017.06.048 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28728811 }} </ref> | ||
*The predicted incidence of glycogen storage disease type 2 is approximately 2.5 per 100,000 individuals in Netherlands. This incidence in divided into 0.7 per 100,000 individuals for infantile GSD type 2 and 1.8 per 100,000 individuals for adult GSD type 2.<ref name="pmid10482961">{{cite journal| author=Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH et al.| title=Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. | journal=Eur J Hum Genet | year= 1999 | volume= 7 | issue= 6 | pages= 713-6 | pmid=10482961 | doi=10.1038/sj.ejhg.5200367 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10482961 }} </ref> | *The predicted incidence of glycogen storage disease type 2 is approximately 2.5 per 100,000 individuals in Netherlands. This incidence in divided into 0.7 per 100,000 individuals for infantile GSD type 2 and 1.8 per 100,000 individuals for adult GSD type 2.<ref name="pmid10482961">{{cite journal| author=Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH et al.| title=Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. | journal=Eur J Hum Genet | year= 1999 | volume= 7 | issue= 6 | pages= 713-6 | pmid=10482961 | doi=10.1038/sj.ejhg.5200367 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10482961 }} </ref> | ||
===Age=== | ===Age=== | ||
*Patients of all age groups may develop | *Patients of all age groups may develop glycogen storage disease type 2.<ref name="pmid16133732">{{cite journal| author=Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ et al.| title=The natural course of non-classic Pompe's disease; a review of 225 published cases. | journal=J Neurol | year= 2005 | volume= 252 | issue= 8 | pages= 875-84 | pmid=16133732 | doi=10.1007/s00415-005-0922-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16133732 }} </ref> | ||
*However, glycogen storage disease type 2 most commonly affects individuals younger than 1 year of age.<ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883 }} </ref> | |||
* | |||
===Race=== | ===Race=== | ||
* | *Glycogen storage disease type 2 usually affects individuals of the Caucasian race.<ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883 }} </ref> | ||
===Gender=== | ===Gender=== | ||
* | *Glycogen storage disease type 2 affects men and women equally.<ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883 }} </ref> | ||
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==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category: | [[Category:Gastroenterology]] | ||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} |
Latest revision as of 19:45, 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
The incidence of glycogen storage disease type 2 (GSD type 2) is approximately 2.5 per 100,000 individuals. Patients of all age groups may develop glycogen storage disease type 2. However, glycogen storage disease type 2 most commonly affects individuals younger than 1 year of age. Glycogen storage disease type 2 usually affects individuals of the Caucasian race.
Epidemiology and Demographics
Incidence
- The incidence of glycogen storage disease type 2 (GSD type 2) is approximately 2.5 per 100,000 individuals.[1]
- The incidence of glycogen storage disease type 2 (GSD type 2) is approximately 11.5 per 100,000 individuals in the state of Illinois, United States.[2]
- The predicted incidence of glycogen storage disease type 2 is approximately 2.5 per 100,000 individuals in Netherlands. This incidence in divided into 0.7 per 100,000 individuals for infantile GSD type 2 and 1.8 per 100,000 individuals for adult GSD type 2.[3]
Age
- Patients of all age groups may develop glycogen storage disease type 2.[4]
- However, glycogen storage disease type 2 most commonly affects individuals younger than 1 year of age.[5]
Race
- Glycogen storage disease type 2 usually affects individuals of the Caucasian race.[5]
Gender
- Glycogen storage disease type 2 affects men and women equally.[5]
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. - ↑ Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR; et al. (2017). "Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience". J Pediatr. 190: 130–135. doi:10.1016/j.jpeds.2017.06.048. PMID 28728811.
- ↑ Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH; et al. (1999). "Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling". Eur J Hum Genet. 7 (6): 713–6. doi:10.1038/sj.ejhg.5200367. PMID 10482961.
- ↑ Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ; et al. (2005). "The natural course of non-classic Pompe's disease; a review of 225 published cases". J Neurol. 252 (8): 875–84. doi:10.1007/s00415-005-0922-9. PMID 16133732.
- ↑ 5.0 5.1 5.2 Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; et al. (2006). "A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease". J Pediatr. 148 (5): 671–676. doi:10.1016/j.jpeds.2005.11.033. PMID 16737883.