Glycogen storage disease type II history and symptoms: Difference between revisions
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====Less Common Symptoms==== | ====Less Common Symptoms==== | ||
Less common symptoms of infantile onset glycogen storage disease type 2 include:<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><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283 }} </ref><ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982 }} </ref> | Less common symptoms of infantile onset glycogen storage disease type 2 include:<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><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283 }} </ref><ref name="pmid15126982">{{cite journal| author=Kishnani PS, Howell RR| title=Pompe disease in infants and children. | journal=J Pediatr | year= 2004 | volume= 144 | issue= 5 Suppl | pages= S35-43 | pmid=15126982 | doi=10.1016/j.jpeds.2004.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15126982 }} </ref> | ||
*Areflexia (in late stages of disease) | *[[Areflexia]] (in late stages of disease) | ||
*Malaise | *[[Malaise]] | ||
*Sweatiness | *Sweatiness | ||
*Fatigue | *[[Fatigue]] | ||
*Irritability | *[[Irritability]] | ||
*Weak cry | *Weak cry | ||
*Constipation | *[[Constipation]] | ||
*Vomiting | *[[Vomiting]] | ||
*Gastroesophageal reflux | *[[Gastroesophageal reflux]] | ||
*Sleep apnea | *[[Sleep apnea]] | ||
*Spasm | *[[Spasm]] | ||
*Tremor | *[[Tremor]] | ||
===Late Onset Glycogen Storage Disease Type II=== | ===Late Onset Glycogen Storage Disease Type II=== | ||
| Line 53: | Line 53: | ||
**[[Hypotonia]] | **[[Hypotonia]] | ||
**Decreased [[Deep tendon reflex|deep tendon reflexes]] | **Decreased [[Deep tendon reflex|deep tendon reflexes]] | ||
*Swallowing difficulty | *[[Swallowing difficulty]] | ||
*Respiratory problems | *Respiratory problems | ||
**Frequent [[respiratory infections]] | **Frequent [[respiratory infections]] | ||
| Line 74: | Line 74: | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} | ||
Latest revision as of 19:44, 23 January 2018
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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
Patients with glycogen storage disease type 2 (GSD type 2) may have a positive history of GSD type 2 in family members, delay in developmental milestones, infant slips through when grasped under the arms, respiratory difficulties, frequent respiratory infections, and cardiac symptoms. Most common symptoms of infantile onset glycogen storage disease type 2 include hypotonia and muscle weakness. Most common symptoms of late onset glycogen storage disease type 2 include progressive muscle weakness, swallowing difficulties, ans respiratory problems.
History and Symptoms
History
Patients with glycogen storage disease type 2 (GSD type 2) may have a positive history of:[1][2]
- GSD type 2 in family members
- Developmental 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
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.