Glycogen storage disease type II physical examination: Difference between revisions
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==Overview== | ==Overview== | ||
Physical examination of patients with glycogen storage disease type 2 (GSD type 2) is usually remarkable for muscular weakness, hypotonia, absent deep tendon | 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== | ||
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===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
*Patients with infantile GSD type 2 usually appear | *Patients with infantile GSD type 2 usually appear [[dyspneic]], pale, and/or [[cyanotic]] | ||
*Sometimes the appearance is also called as "Floppy baby appearance" | *Sometimes the appearance is also called as "Floppy baby appearance" | ||
===Vital Signs=== | ===Vital Signs=== | ||
*Tachypnea | *[[Tachypnea]] | ||
===Skin=== | ===Skin=== | ||
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* Head lag | * Head lag | ||
*Laxity of facial muscles | *Laxity of facial muscles | ||
* Enlarged tongue may be present. | * [[Enlarged tongue]] may be present. | ||
* Tougue fibrillation and/or absent tongue movements may be present | * Tougue fibrillation and/or absent tongue movements may be present | ||
===Neck=== | ===Neck=== | ||
* Neck examination of patients with GSD type 2 is usually normal. | * Neck examination of patients with GSD type 2 is usually normal. | ||
===Lungs=== | ===Lungs=== | ||
* | * [[Dyspnea]] | ||
===Heart=== | ===Heart=== | ||
*[[Heart sounds#Summation Gallop|Gallops]] may be present | *[[Heart sounds#Summation Gallop|Gallops]] may be present | ||
*Murmur may be present | *[[Murmur]] may be present | ||
===Abdomen=== | ===Abdomen=== | ||
*[[Hepatomegaly]] may be present | *[[Hepatomegaly]] may be present | ||
*Splenomegaly may be present | *[[Splenomegaly]] may be present | ||
===Back=== | ===Back=== | ||
* Scoliosis may be present | * [[Scoliosis]] may be present | ||
===Genitourinary=== | ===Genitourinary=== | ||
* Genitourinary examination of patients with GSD type 2 is usually normal. | * Genitourinary examination of patients with GSD type 2 is usually normal. | ||
===Neuromuscular=== | ===Neuromuscular=== | ||
*Positive Gower sign | *Positive [[Gower's sign]] | ||
* Hypotonia | * [[Hypotonia]] | ||
* Absent deep tendon reflex | * Absent [[deep tendon reflex]] | ||
===Extremities=== | ===Extremities=== | ||
*Calf muscles feel firm on palpation | *[[Calf muscle|Calf muscles]] feel firm on [[palpation]] | ||
*Decreased deep tendon reflexes | *Decreased [[Deep tendon reflex|deep tendon reflexes]] | ||
* Tremors may be present | * [[Tremors]] may be present | ||
* Spasm of legs may be rarely present | * [[Spasm]] of legs may be rarely present | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} |
Revision as of 14:28, 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
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
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.