Glycogen storage disease type II natural history, complications and prognosis: Difference between revisions
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===Natural History=== | ===Natural History=== | ||
*The symptoms of infantile glycogen storage disease type 2 (GSD type 2) usually develop in the first two months of life and start with symptoms | *The symptoms of infantile glycogen storage disease type 2 (GSD type 2) usually develop in the first two months of life and start with symptoms of cardiomegaly and cardiomyopathy. Other symptoms include hypotonia, muscle weakness, respiratory distress, feeding difficulties, and failure to thrive.<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> | ||
*Infantile GSD type 2 is usually diagnosed at a median age of 4.7 months. | *Infantile GSD type 2 is usually diagnosed at a median age of 4.7 months. | ||
*The symptoms of (disease name) typically develop ___ years after exposure to ___. | *The symptoms of (disease name) typically develop ___ years after exposure to ___. | ||
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===Complications=== | ===Complications=== | ||
*Common complications of | *Common complications of glycogen storage disease type 2 include:<ref name="pmid10931430">{{cite journal| author=Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F| title=Identification of two subtypes of infantile acid maltase deficiency. | journal=J Pediatr | year= 2000 | volume= 137 | issue= 2 | pages= 283-5 | pmid=10931430 | doi=10.1067/mpd.2000.107112 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10931430 }} </ref> | ||
** | **Cardiomegaly | ||
**Cardiomyopathy | |||
** | |||
===Prognosis=== | ===Prognosis=== | ||
*The presence of infantile | *The presence of infantile GSD type 2 is associated with an extremely poor prognosis and the majority of the patients are on ventilatory support by a median age of 5.9 months.<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> | ||
*The median age of death is 8.7 months. | *The median age of death is 8.7 months. | ||
*Infantile GSD type 2 patients with supportive and palliative treatment also have a very poor prognosis with mortality before 12 months of age. | |||
==References== | ==References== | ||
Revision as of 17:55, 11 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
OR
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
OR
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
Natural History, Complications, and Prognosis
Natural History
- The symptoms of infantile glycogen storage disease type 2 (GSD type 2) usually develop in the first two months of life and start with symptoms of cardiomegaly and cardiomyopathy. Other symptoms include hypotonia, muscle weakness, respiratory distress, feeding difficulties, and failure to thrive.[1]
- Infantile GSD type 2 is usually diagnosed at a median age of 4.7 months.
- The symptoms of (disease name) typically develop ___ years after exposure to ___.
- If left untreated, patients with glycogen storage disease type 2 progress to cardiac insufficiency resulting in death within first two years of life.
Complications
- Common complications of glycogen storage disease type 2 include:[2]
- Cardiomegaly
- Cardiomyopathy
Prognosis
- The presence of infantile GSD type 2 is associated with an extremely poor prognosis and the majority of the patients are on ventilatory support by a median age of 5.9 months.[1]
- The median age of death is 8.7 months.
- Infantile GSD type 2 patients with supportive and palliative treatment also have a very poor prognosis with mortality before 12 months of age.
References
- ↑ 1.0 1.1 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.
- ↑ Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F (2000). "Identification of two subtypes of infantile acid maltase deficiency". J Pediatr. 137 (2): 283–5. doi:10.1067/mpd.2000.107112. PMID 10931430.