Glycogen storage disease type II physical examination: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
No edit summary
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Glycogen storage disease type II}}
{{Glycogen storage disease type II}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}}{{Anmol}}


==Overview==
==Overview==
Line 19: Line 19:


==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>
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 dyspnoeic, pale, and/or cyanotic


===Vital Signs===
===Vital Signs===


*High-grade / low-grade fever
*[[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
*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.
* Enlarged tongue may be present.
OR
* Tougue fibrillation and/or absent tongue movements may be present
* Abnormalities of the head/hair may include ___
* Evidence of trauma
* 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.
* Respiratory distress
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.
* Back examination of patients with GSD type 2 is usually normal.
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
*A pelvic/adnexal mass may be palpated
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge
 
===Neuromuscular===
===Neuromuscular===
* Neuromuscular examination of patients with [disease name] is usually normal.
* Hypotonia
OR
* Absent deep tendon reflex
*Patient is usually oriented to persons, place, and time
* Altered mental status
* Glasgow coma scale is ___ / 15
* 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===
===Extremities===
* Extermities examination of patients with [disease name] is usually normal.
* Tremors may be present
OR
* Spasm of legs may be rarely present
*[[Clubbing]]
*[[Cyanosis]]
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Muscle atrophy
*Fasciculations in the upper/lower extremity
 
==References==
==References==
{{reflist|2}}
{{reflist|2}}

Revision as of 18:24, 11 January 2018

Glycogen storage disease type II Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Glycogen storage disease type II from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Glycogen storage disease type II physical examination On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Glycogen storage disease type II physical examination

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Glycogen storage disease type II physical examination

CDC on Glycogen storage disease type II physical examination

Glycogen storage disease type II physical examination in the news

Blogs on Glycogen storage disease type II physical examination

Directions to Hospitals Treating Glycogen storage disease type II

Risk calculators and risk factors for Glycogen storage disease type II physical examination

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 [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

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 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]

Appearance of the Patient

  • Patients with infantile GSD type 2 usually appear dyspnoeic, pale, and/or cyanotic

Vital Signs

  • Tachypnea / bradypnea

Skin

HEENT

  • 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

Back

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

Genitourinary

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

Neuromuscular

  • Hypotonia
  • Absent deep tendon reflex

Extremities

  • Tremors may be present
  • Spasm of legs may be rarely present

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.

Template:WS Template:WH

Retrieved from "https://www.wikidoc.org/index.php?title=Glycogen_storage_disease_type_II_physical_examination&oldid=1429463"