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: Anmol Pitliya, M.B.B.S. M.D.[2]
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
History
Patients with glycogen storage disease type II may have a positive history of:[1][2]
- Development delay in milestones
- Infant slips through when grasped under the arms
- Respiratory difficulties
- Frequent respiratory infections
- Cardiac symptoms
Infantile Onset Glycogen Storage Disease Type II
Common Symptoms
Common symptoms of infantile onset glycogen storage disease type II include:[3][4][2]
- Hypotonia
- Muscular weakness
- Motor retardation
- Paucity of movements
- Laxity of facial muscles
- Respiratory distress
- Feeding difficulties
- Failure to thrive
- Cardiac symptoms due to cardiomegaly and cardiomyopathy
Less Common Symptoms
Less common symptoms of infantile onset glycogen storage disease type 2 include:[3][4][2]
- Areflexia (in late stages of disease)
- Malaise
- Sweatiness
- Fatigue
- Irritability
- Weak cry
- Constipation
- Vomiting
- Gastroesophageal reflux
- Sleep apnea
- Spasm
- Tremor
Late Onset Glycogen Storage Disease Type II
Common Symptoms
Common symptoms of late onset glycogen storage disease type II include:[2]
- Progressive muscular weakness (all patients)
- Predominantly proximal
- Lower limbs affected more than upper
- Involvement of paraspinal muscles (older children)
- Hypotonia
- Decreased deep tendon reflexes
- Swallowing difficulty
- Respiratory problems
- Frequent respiratory infections
- Respiratory insufficiency or failure
- Exertional dyspnea
- Obstructive sleep apnea
- Orthopnea
- Exercise intolerance
Less Common Symptoms
Less common symptoms of late onset glycogen storage disease type 2 include:[2]
- Cardiac problems
- Macroglossia
- Morning headache
- Somnolence
- Lower back pain
- Decreased deep tendon reflexes
- Lordosis, kyphosis, and/or scoliosis
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 2.2 2.3 2.4 Kishnani PS, Howell RR (2004). "Pompe disease in infants and children". J Pediatr. 144 (5 Suppl): S35–43. doi:10.1016/j.jpeds.2004.01.053. PMID 15126982.
- ↑ 3.0 3.1 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.
- ↑ 4.0 4.1 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.