Glycogen storage disease type II natural history, complications and prognosis
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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
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 classic infantile glycogen storage disease type 2 (GSD type 2) usually develop in the first two months of life and start with symptoms of feeding difficulties and failure to thrive.[1][2]
- Classic infantile GSD type 2 is usually diagnosed at a median age of 4.7 months.
- If left untreated, patients with classic infantile GSD type 2 progress to cardiac insufficiency resulting in death within first two years of life.
- Non-classic infantile GSD type 2 is a less severe form and patients may survive beyond 2 years.[3]
Complications
- Common complications of glycogen storage disease type 2 include:[4]
- Cardiomegaly
- Cardiomyopathy
Prognosis
- Depending on the age of onset of glycogen storage disease type 2, the prognosis may vary. The prognosis is comparatively better as age of onset increases.[5]
- The presence of classic 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.
- Classic infantile GSD type 2 patients with supportive and palliative treatment also have a very poor prognosis with mortality before 12 months of age.
- Prognosis of non-classic infantile GSD type 2 is also poor but some patients may survive beyond 2 years.[3]
- Childhood/juvenile GSD type 2 have a relatively good prognosis. Patients may survive up to the third decade of life.
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.
- ↑ van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.
- ↑ 3.0 3.1 Di Rocco M, Buzzi D, Tarò M (2007). "Glycogen storage disease type II: clinical overview". Acta Myol. 26 (1): 42–4. PMC 2949314. PMID 17915568.
- ↑ 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.
- ↑ 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.