Glycogen storage disease type II history and symptoms: Difference between revisions
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Patients with [disease name]] may have a positive history of:<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> | Patients with [disease name]] may have a positive history of:<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> | ||
*Development delay in milestones | *Development delay in milestones | ||
* | *Respiratory difficulties | ||
*[History finding 3] | *[History finding 3] | ||
===Common Symptoms=== | ===Common Symptoms=== |
Revision as of 14:51, 15 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The majority of patients with [disease name] are asymptomatic.
OR
The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
History and Symptoms
- The majority of patients with [disease name] are asymptomatic.
OR
- The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
- Symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
History
Patients with [disease name]] may have a positive history of:[1]
- Development delay in milestones
- Respiratory difficulties
- [History finding 3]
Common Symptoms
Common symptoms of glycogen storage disease type II include:[2][3]
- Hypotonia
- Muscular weakness
- Motor retardation
- Paucity of movements
- Respiratory distress
- Feeding difficulties
- Failure to thrive
- Cardiac symptoms due to cardiomegaly and cardiomyopathy
Less Common Symptoms
Less common symptoms of glycogen storage disease type 2 include:[2][3]
- Malaise
- Sweatiness
- Fatigue
- Irritability
- Weak cry
- Constipation
- Vomiting
- Gastroesophageal reflux
- Sleep apnea
- Spasm
- Tremor
References
- ↑ 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.
- ↑ 2.0 2.1 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.
- ↑ 3.0 3.1 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.