Glycogen storage disease type II physical examination: Difference between revisions

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{{Glycogen storage disease type II}}
{{Glycogen storage disease type II}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}} {{Anmol}}


==Overview==
==Overview==
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
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]].
 
OR
 
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


==Physical Examination==
==Physical Examination==
* Physical examination of patients with [disease name] is usually normal.
*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>
OR
*Physical examination of patients with [disease name] is usually remarkable for:[finding 1], [finding 2], and [finding 3].
*The presence of [finding(s)] on physical examination is diagnostic of [disease name].
*The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


===Appearance of the Patient===
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].
*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===
===Vital Signs===


*High-grade / low-grade fever
*[[Tachypnea]]
*[[Hypothermia]] / hyperthermia may be present
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*Tachypnea / bradypnea
*Kussmal respirations may be present in _____ (advanced disease state)
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]


===Skin===
===Skin===
* Skin examination of patients with [disease name] is usually normal.
OR
*[[Cyanosis]]  
*[[Cyanosis]]  
*[[Jaundice]]
* [[Pallor]]
* [[Pallor]]
* Bruises
<gallery widths="150px">
UploadedImage-01.jpg | Description {{dermref}}
UploadedImage-02.jpg | Description {{dermref}}
</gallery>


===HEENT===
===HEENT===
* HEENT examination of patients with [disease name] is usually normal.
* Head lag
OR
*Laxity of facial muscles
* Abnormalities of the head/hair may include ___
* [[Enlarged tongue]] may be present.
* Evidence of trauma
* Tougue fibrillation and/or absent tongue movements may be present
* Icteric sclera
* [[Nystagmus]]  
* Extra-ocular movements may be abnormal
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
*Ophthalmoscopic exam may be abnormal with findings of ___
* Hearing acuity may be reduced
*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
* [[Exudate]] from the ear canal
* Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
*Inflamed nares / congested nares
* [[Purulent]] exudate from the nares
* Facial tenderness
* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae
 
===Neck===
===Neck===
* Neck examination of patients with [disease name] is usually normal.
* Neck examination of patients with GSD type 2 is usually normal.
OR
*[[Jugular venous distension]]
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]]
 
===Lungs===
===Lungs===
* Pulmonary examination of patients with [disease name] is usually normal.
* [[Dyspnea]]
OR
* Asymmetric chest expansion / Decreased chest expansion
*Lungs are hypo/hyperresonant
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
*Rhonchi
*Vesicular breath sounds / Distant breath sounds
*Expiratory/inspiratory wheezing with normal / delayed expiratory phase
*[[Wheezing]] may be present
*[[Egophony]] present/absent
*[[Bronchophony]] present/absent
*Normal/reduced [[tactile fremitus]]
 
===Heart===
===Heart===
* Cardiovascular examination of patients with [disease name] is usually normal.
*[[Heart sounds#Summation Gallop|Gallops]] may be present
OR
*[[Murmur]] may be present
*Chest tenderness upon palpation
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heave]] / [[thrill]]
*[[Friction rub]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|Gallops]]
*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the otoscope


===Abdomen===
===Abdomen===
Abdominal examination of patients with [disease name] is usually normal.
*[[Hepatomegaly]] may be present
 
*[[Splenomegaly]] may be present
OR
*[[Abdominal distention]]  
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
*[[Rebound tenderness]] (positive Blumberg sign)
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*Guarding may be present
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test


===Back===
===Back===
* Back examination of patients with [disease name] is usually normal.
* [[Scoliosis]] may be present
OR
*Point tenderness over __ vertebrae (e.g. L3-L4)
*Sacral edema
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump


===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
* Genitourinary examination of patients with GSD type 2 is usually normal.
OR
===Neuromuscular===
*A pelvic/adnexal mass may be palpated
*Positive [[Gower's sign]]
*Inflamed mucosa
* [[Hypotonia]]
*Clear/(color), foul-smelling/odorless penile/vaginal discharge
* 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>


===Neuromuscular===
<div align="left">
* Neuromuscular examination of patients with [disease name] is usually normal.
<gallery heights="175" widths="175">
OR
Image:227292.jpg|Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient
*Patient is usually oriented to persons, place, and time
Image:227295.jpg|Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient
* Altered mental status
</gallery>
* Glasgow coma scale is ___ / 15
</div>
* Clonus may be present
* Hyperreflexia / hyporeflexia / areflexia
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Muscle rigidity
* Proximal/distal muscle weakness unilaterally/bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*Unilateral/bilateral upper/lower extremity weakness
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Positive straight leg raise test
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
*Positive/negative Trendelenburg sign
*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)


===Extremities===
<div align="left">
* Extermities examination of patients with [disease name] is usually normal.
<gallery heights="175" widths="175">
OR
Image:227298.jpg|Pompe's Disease, Glycogen Storage Disease Type II
*[[Clubbing]]
Image:227313.jpg|Pompe's Disease, Glycogen Storage Disease Type II
*[[Cyanosis]]
</gallery>
*Pitting/non-pitting [[edema]] of the upper/lower extremities
</div>
*Muscle atrophy
*Fasciculations in the upper/lower extremity


==References==
==References==
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[[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 18:55, 30 January 2018

Glycogen storage disease type II Microchapters

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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

Back

Genitourinary

  • Genitourinary examination of patients with GSD type 2 is usually normal.

Neuromuscular

Extremities


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. 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

    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

  • Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient

    Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient

  • Pompe's Disease, Glycogen Storage Disease Type II

    Pompe's Disease, Glycogen Storage Disease Type II

  • Pompe's Disease, Glycogen Storage Disease Type II

    Pompe's Disease, Glycogen Storage Disease Type II

References

  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.
  2. ↑ 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.
  3. ↑ 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.

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