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 reflexes and paucity of movements. Patients with infantile GSD type 2 usually appear dyspnoeic, pale, and/or cyanotic . | 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. Patients with infantile GSD type 2 usually appear dyspnoeic, pale, and/or cyanotic. | ||
==Physical Examination== | ==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> | *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=== | ===Appearance of the Patient=== | ||
*Patients with infantile GSD type 2 usually appear dyspnoeic, pale, and/or cyanotic | *Patients with infantile GSD type 2 usually appear dyspnoeic, pale, and/or cyanotic | ||
*Sometimes the appearance is also called as "Floppy baby appearance" | |||
===Vital Signs=== | ===Vital Signs=== | ||
| Line 21: | Line 22: | ||
===HEENT=== | ===HEENT=== | ||
* Head lag | |||
*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 | ||
| Line 41: | Line 44: | ||
* 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 | |||
* Hypotonia | * Hypotonia | ||
* Absent deep tendon reflex | * Absent deep tendon reflex | ||
===Extremities=== | ===Extremities=== | ||
*Calf muscles feel firm on palpation | |||
*Decreased 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 | ||
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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 reflexes and paucity of movements. Patients with infantile GSD type 2 usually appear dyspnoeic, 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 dyspnoeic, pale, and/or cyanotic
- Sometimes the appearance is also called as "Floppy baby appearance"
Vital Signs
- Tachypnea / bradypnea
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
- Respiratory distress
Heart
- 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 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.