Glycogen storage disease type II physical examination: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
{{CMG}}; {{AE}} {{Anmol}} | |||
==Overview== | |||
Physical examination of patients with glycogen storage disease type 2 (GSD type 2) is usually remarkable for [[muscular weakness]], [[hypotonia]], absent [[deep tendon reflex]] and paucity of movements. Patients with infantile GSD type 2 usually appear [[dyspneic]], pale, and/or [[cyanotic]]. | |||
==Physical Examination== | |||
*Physical examination of patients with glycogen storage disease type 2 (GSD type 2) is usually remarkable for muscular weakness, hypotonia, absent deep tendon reflexes and paucity of movements.<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="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><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> | |||
===Appearance of the Patient=== | |||
*Patients with infantile GSD type 2 usually appear [[dyspneic]], pale, and/or [[cyanotic]] | |||
*Sometimes the appearance is also called as "Floppy baby appearance" | |||
===Vital Signs=== | |||
*[[Tachypnea]] | |||
===Skin=== | |||
*[[Cyanosis]] | |||
* [[Pallor]] | |||
===HEENT=== | |||
* Head lag | |||
*Laxity of facial muscles | |||
* [[Enlarged tongue]] may be present. | |||
* Tougue fibrillation and/or absent tongue movements may be present | |||
===Neck=== | |||
* Neck examination of patients with GSD type 2 is usually normal. | |||
===Lungs=== | |||
* [[Dyspnea]] | |||
===Heart=== | |||
*[[Heart sounds#Summation Gallop|Gallops]] may be present | |||
*[[Murmur]] may be present | |||
===Abdomen=== | |||
*[[Hepatomegaly]] may be present | |||
*[[Splenomegaly]] may be present | |||
===Back=== | |||
* [[Scoliosis]] may be present | |||
===Genitourinary=== | |||
* Genitourinary examination of patients with GSD type 2 is usually normal. | |||
===Neuromuscular=== | |||
*Positive [[Gower's sign]] | |||
* [[Hypotonia]] | |||
* Absent [[deep tendon reflex]] | |||
===Extremities=== | |||
*[[Calf muscle|Calf muscles]] feel firm on [[palpation]] | |||
*Decreased [[Deep tendon reflex|deep tendon reflexes]] | |||
* [[Tremors]] may be present | |||
* [[Spasm]] of legs may be rarely present | |||
==Image gallery== | |||
Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. [http://www.peir.net © PEIR, University of Alabama at Birmingham, Department of Pathology] | |||
<div align="left"> | |||
<gallery heights="175" widths="175"> | |||
Image:218243.jpg|Pompe's Disease, Glycogen Storage Disease Type II. Child in crib | |||
Image:227286.jpg|Pompe's Disease, Glycogen Storage Disease Type II | |||
Image:227289.jpg|Pompe's Disease, Glycogen Storage Disease Type II | |||
</gallery> | |||
</div> | |||
<div align="left"> | |||
<gallery heights="175" widths="175"> | |||
Image:227292.jpg|Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient | |||
Image:227295.jpg|Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient | |||
</gallery> | |||
</div> | |||
<div align="left"> | |||
<gallery heights="175" widths="175"> | |||
Image:227298.jpg|Pompe's Disease, Glycogen Storage Disease Type II | |||
Image:227313.jpg|Pompe's Disease, Glycogen Storage Disease Type II | |||
</gallery> | |||
</div> | |||
==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:Genetic disorders]] | ||
[[Category: | [[Category:Metabolic disorders]] | ||
{{WS}} | |||
{{WH}} |
Latest revision as of 18:55, 30 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
Physical examination of patients with glycogen storage disease type 2 (GSD type 2) is usually remarkable for muscular weakness, hypotonia, absent deep tendon reflex and paucity of movements. Patients with infantile GSD type 2 usually appear dyspneic, pale, and/or cyanotic.
Physical Examination
- Physical examination of patients with glycogen storage disease type 2 (GSD type 2) is usually remarkable for muscular weakness, hypotonia, absent deep tendon reflexes and paucity of movements.[1][2][3]
Appearance of the Patient
- Patients with infantile GSD type 2 usually appear dyspneic, pale, and/or cyanotic
- Sometimes the appearance is also called as "Floppy baby appearance"
Vital Signs
Skin
HEENT
- Head lag
- Laxity of facial muscles
- Enlarged tongue may be present.
- Tougue fibrillation and/or absent tongue movements may be present
Neck
- Neck examination of patients with GSD type 2 is usually normal.
Lungs
Heart
Abdomen
- Hepatomegaly may be present
- Splenomegaly may be present
Back
- Scoliosis may be present
Genitourinary
- Genitourinary examination of patients with GSD type 2 is usually normal.
Neuromuscular
- Positive Gower's sign
- Hypotonia
- Absent deep tendon reflex
Extremities
- Calf muscles feel firm on palpation
- Decreased deep tendon reflexes
- Tremors may be present
- Spasm of legs may be rarely present
Image gallery
Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology
-
Pompe's Disease, Glycogen Storage Disease Type II. Child in crib
-
Pompe's Disease, Glycogen Storage Disease Type II
-
Pompe's Disease, Glycogen Storage Disease Type II
-
Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient
-
Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient
References
- ↑ 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.
- ↑ 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.
- ↑ 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.