Glycogen storage disease type II history and symptoms
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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:
- [History finding 1]
- [History finding 2]
- [History finding 3]
Common Symptoms
Common symptoms of glycogen storage disease type II include:[1][2]
- 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:[1][2]
- Malaise
- Sweatiness
- Fatigue
- Irritability
- Weak cry
- Constipation
- Vomiting
- Gastroesophageal reflux
- Sleep apnea
- Spasm
- Tremor
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.
- ↑ 2.0 2.1 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.