Duchenne muscular dystrophy physical examination: Difference between revisions

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__NOTOC__
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{{Xyz}}
{{Duchenne muscular dystrophy}}


{{CMG}}; {{AE}}
{{CMG}}; {{AE}} {{Fs}}


==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 Duchenne [[muscular dystrophy]] is usually remarkable for waddling [[gait]], [[Tachypnea]] or [[bradypnea]], decreased [[chest expansion]], [[lordosis]], [[scoliosis]], calf [[muscle hypertrophy]], [[foot drop]], tight heel cord, backward bending of the [[knee]], and [[muscle atrophy]] in [[thighs]] and [[Buttocks|buttock]].
 
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 [[Patient|patients]] with Duchenne [[muscular dystrophy]] is usually remarkable for waddling [[gait]], [[Tachypnea]] or [[bradypnea]], decreased [[chest expansion]], [[lordosis]], [[scoliosis]], calf [[muscle]] [[Hypertrophy (medical)|hypertrophy]], [[foot drop]], tight heel cord, backward bending of the [[knee]], and [[muscle atrophy]] in [[thighs]] and [[buttock]].
 
OR
 
Physical examination of patients with [disease name] is usually remarkable for [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].


===Appearance of the Patient===
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].  
*[[Patients]] with Duchenne [[muscular dystrophy]] usually have waddling or [[Trendelenburg gait]]<ref name="D’AngeloBerti2009">{{cite journal|last1=D’Angelo|first1=Maria Grazia|last2=Berti|first2=Matteo|last3=Piccinini|first3=Luigi|last4=Romei|first4=Marianna|last5=Guglieri|first5=Michela|last6=Bonato|first6=Sara|last7=Degrate|first7=Alessandro|last8=Turconi|first8=Anna Carla|last9=Bresolin|first9=Nereo|title=Gait pattern in Duchenne muscular dystrophy|journal=Gait & Posture|volume=29|issue=1|year=2009|pages=36–41|issn=09666362|doi=10.1016/j.gaitpost.2008.06.002}}</ref>


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


*High-grade / low-grade fever
*[[Hyperthermia]] may be present mostly due to [[respiratory infections]]<ref name="ChenardBecane1993">{{cite journal|last1=Chenard|first1=A.A.|last2=Becane|first2=H.M.|last3=Tertrain|first3=F.|last4=de Kermadec|first4=J.M.|last5=Weiss|first5=Y.A.|title=Ventricular arrhythmia in Duchenne muscular dystrophy: Prevalence, significance and prognosis|journal=Neuromuscular Disorders|volume=3|issue=3|year=1993|pages=201–206|issn=09608966|doi=10.1016/0960-8966(93)90060-W}}</ref><ref name="SimondsMuntoni1998">{{cite journal|last1=Simonds|first1=A K|last2=Muntoni|first2=F|last3=Heather|first3=S|last4=Fielding|first4=S|title=Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy|journal=Thorax|volume=53|issue=11|year=1998|pages=949–952|issn=0040-6376|doi=10.1136/thx.53.11.949}}</ref>
*[[Hypothermia]] / hyperthermia may be present
*Irregularly [[pulse]] may be present
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Tachypnea]] at first due to hypercapnea and [[bradypnea]] after [[respiratory]] [[muscle]] [[exhaustion]]
*[[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.
* [[Skin]] examination of patients with Duchenne [[muscular dystrophy]] is usually normal
OR
*[[Cyanosis]]
*[[Jaundice]]
* [[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.
* HEENT examination of patients with Duchenne [[muscular dystrophy]] is usually normal
OR
* 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]] deviation may be present
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.
* Decreased [[chest expansion]]<ref name="Gozal2000">{{cite journal|last1=Gozal|first1=David|title=Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy|journal=Pediatric Pulmonology|volume=29|issue=2|year=2000|pages=141–150|issn=8755-6863|doi=10.1002/(SICI)1099-0496(200002)29:2<141::AID-PPUL9>3.0.CO;2-Y}}</ref>
OR
* Use of accessory breath [[muscles]]
* Asymmetric chest expansion OR decreased chest expansion
* Decreased [[breath sounds]] may be seen in case of [[pneumonia]]
*Lungs are hyporesonant OR hyperresonant
*Fine/coarse [[crackles]] upon [[auscultation]] of the [[lung]] may be present in case of [[pneumonia]]
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
*Rhonchi
*Vesicular breath sounds OR distant breath sounds
*Expiratory wheezing OR inspiratory wheezing with normal OR 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.
* [[Arrythmia]] may be present.<ref name="ChenardBecane1993">{{cite journal|last1=Chenard|first1=A.A.|last2=Becane|first2=H.M.|last3=Tertrain|first3=F.|last4=de Kermadec|first4=J.M.|last5=Weiss|first5=Y.A.|title=Ventricular arrhythmia in Duchenne muscular dystrophy: Prevalence, significance and prognosis|journal=Neuromuscular Disorders|volume=3|issue=3|year=1993|pages=201–206|issn=09608966|doi=10.1016/0960-8966(93)90060-W}}</ref>
OR
*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 stethoscope
 
===Abdomen===
===Abdomen===
* Abdominal examination of patients with [disease name] is usually normal.
*[[Abdomen]] sticks out because of the [[lordosis]] <ref name="KerrLin2008">{{cite journal|last1=Kerr|first1=Tim P.|last2=Lin|first2=Jean-Pierre|last3=Gresty|first3=Michael A.|last4=Morley|first4=Tim|last5=Robb|first5=Stephanie A.|title=Spinal stability is improved by inducing a lumbar lordosis in boys with Duchenne Muscular Dystrophy: A pilot study|journal=Gait & Posture|volume=28|issue=1|year=2008|pages=108–112|issn=09666362|doi=10.1016/j.gaitpost.2007.10.008}}</ref>
OR
*[[Abdominal distension]]  
*[[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]]<ref name="KerrLin2008">{{cite journal|last1=Kerr|first1=Tim P.|last2=Lin|first2=Jean-Pierre|last3=Gresty|first3=Michael A.|last4=Morley|first4=Tim|last5=Robb|first5=Stephanie A.|title=Spinal stability is improved by inducing a lumbar lordosis in boys with Duchenne Muscular Dystrophy: A pilot study|journal=Gait & Posture|volume=28|issue=1|year=2008|pages=108–112|issn=09666362|doi=10.1016/j.gaitpost.2007.10.008}}</ref><ref name="pmid2760082">{{cite journal |vauthors=Smith AD, Koreska J, Moseley CF |title=Progression of scoliosis in Duchenne muscular dystrophy |journal=J Bone Joint Surg Am |volume=71 |issue=7 |pages=1066–74 |date=August 1989 |pmid=2760082 |doi= |url=}}</ref>
OR
* Abnormal spinal curves (specially [[lordosis]])
*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.
* Urinary dysfunction may be present <ref name="CaressKothari1996">{{cite journal|last1=Caress|first1=James B.|last2=Kothari|first2=Milind J.|last3=Bauer|first3=Stuart B.|last4=Shefner|first4=Jeremy M.|title=Urinary dysfunction in Duchenne muscular dystrophy|journal=Muscle & Nerve|volume=19|issue=7|year=1996|pages=819–822|issn=0148-639X|doi=10.1002/(SICI)1097-4598(199607)19:7<819::AID-MUS2>3.0.CO;2-C}}</ref>
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.
*[[Patient]] is usually oriented to persons, place, and time<ref name="D’AngeloBerti2009" /><ref name="Pradhan1994">{{cite journal|last1=Pradhan|first1=Sunil|title=New clinical sign in Duchenne muscular dystrophy|journal=Pediatric Neurology|volume=11|issue=4|year=1994|pages=298–300|issn=08878994|doi=10.1016/0887-8994(94)90005-1}}</ref>
OR
* [[Hyporeflexia]] / [[areflexia]] may be present
*Patient is usually oriented to persons, place, and time
* [[Muscle weakness]] specially in the [[lower limbs]]
* Altered mental status
*Waddling [[gait]]
* Glasgow coma scale is ___ / 15
*[[Gowers' sign|Gowers sign]]
* 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===
* Extremities examination of patients with [disease name] is usually normal.
*[[Calf muscle]] [[hypertrophy]]<ref name="SackleyDisler2009">{{cite journal|last1=Sackley|first1=Catherine|last2=Disler|first2=Peter B|last3=Turner-Stokes|first3=Lynne|last4=Wade|first4=Derick T|last5=Brittle|first5=Nicola|last6=Hoppitt|first6=Thomas|last7=Sackley|first7=Catherine|title=Rehabilitation interventions for foot drop in neuromuscular disease|year=2009|doi=10.1002/14651858.CD003908.pub3}}</ref><ref name="CrosHarnden1989">{{cite journal|last1=Cros|first1=D.|last2=Harnden|first2=P.|last3=Pellissier|first3=J. F.|last4=Serratrice|first4=G.|title=Muscle hypertrophy in Duchenne muscular dystrophy|journal=Journal of Neurology|volume=236|issue=1|year=1989|pages=43–47|issn=0340-5354|doi=10.1007/BF00314217}}</ref>
OR
*[[Foot drop]]
*[[Clubbing]]  
*Tight heel cord
*[[Cyanosis]]  
*Backward bending of the [[knee]]
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*[[Muscle atrophy]] in [[thighs]] and [[buttock]]
*Muscle atrophy
*Fasciculations in the upper/lower extremity


==References==
==References==

Latest revision as of 14:37, 15 May 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

Physical examination of patients with Duchenne muscular dystrophy is usually remarkable for waddling gait, Tachypnea or bradypnea, decreased chest expansion, lordosis, scoliosis, calf muscle hypertrophy, foot drop, tight heel cord, backward bending of the knee, and muscle atrophy in thighs and buttock.

Physical Examination

Physical examination of patients with Duchenne muscular dystrophy is usually remarkable for waddling gait, Tachypnea or bradypnea, decreased chest expansion, lordosis, scoliosis, calf muscle hypertrophy, foot drop, tight heel cord, backward bending of the knee, and muscle atrophy in thighs and buttock.

Appearance of the Patient

Vital Signs

Skin

HEENT

Neck

  • Neck deviation may be present

Lungs

Heart

Abdomen

Back

Genitourinary

  • Urinary dysfunction may be present [7]

Neuromuscular

Extremities

References

  1. ↑ 1.0 1.1 D’Angelo, Maria Grazia; Berti, Matteo; Piccinini, Luigi; Romei, Marianna; Guglieri, Michela; Bonato, Sara; Degrate, Alessandro; Turconi, Anna Carla; Bresolin, Nereo (2009). "Gait pattern in Duchenne muscular dystrophy". Gait & Posture. 29 (1): 36–41. doi:10.1016/j.gaitpost.2008.06.002. ISSN 0966-6362.
  2. ↑ 2.0 2.1 Chenard, A.A.; Becane, H.M.; Tertrain, F.; de Kermadec, J.M.; Weiss, Y.A. (1993). "Ventricular arrhythmia in Duchenne muscular dystrophy: Prevalence, significance and prognosis". Neuromuscular Disorders. 3 (3): 201–206. doi:10.1016/0960-8966(93)90060-W. ISSN 0960-8966.
  3. ↑ Simonds, A K; Muntoni, F; Heather, S; Fielding, S (1998). "Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy". Thorax. 53 (11): 949–952. doi:10.1136/thx.53.11.949. ISSN 0040-6376.
  4. ↑ Gozal, David (2000). "Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy". Pediatric Pulmonology. 29 (2): 141–150. doi:10.1002/(SICI)1099-0496(200002)29:2<141::AID-PPUL9>3.0.CO;2-Y. ISSN 8755-6863.
  5. ↑ 5.0 5.1 Kerr, Tim P.; Lin, Jean-Pierre; Gresty, Michael A.; Morley, Tim; Robb, Stephanie A. (2008). "Spinal stability is improved by inducing a lumbar lordosis in boys with Duchenne Muscular Dystrophy: A pilot study". Gait & Posture. 28 (1): 108–112. doi:10.1016/j.gaitpost.2007.10.008. ISSN 0966-6362.
  6. ↑ Smith AD, Koreska J, Moseley CF (August 1989). "Progression of scoliosis in Duchenne muscular dystrophy". J Bone Joint Surg Am. 71 (7): 1066–74. PMID 2760082.
  7. ↑ Caress, James B.; Kothari, Milind J.; Bauer, Stuart B.; Shefner, Jeremy M. (1996). "Urinary dysfunction in Duchenne muscular dystrophy". Muscle & Nerve. 19 (7): 819–822. doi:10.1002/(SICI)1097-4598(199607)19:7<819::AID-MUS2>3.0.CO;2-C. ISSN 0148-639X.
  8. ↑ Pradhan, Sunil (1994). "New clinical sign in Duchenne muscular dystrophy". Pediatric Neurology. 11 (4): 298–300. doi:10.1016/0887-8994(94)90005-1. ISSN 0887-8994.
  9. ↑ Sackley, Catherine; Disler, Peter B; Turner-Stokes, Lynne; Wade, Derick T; Brittle, Nicola; Hoppitt, Thomas; Sackley, Catherine (2009). "Rehabilitation interventions for foot drop in neuromuscular disease". doi:10.1002/14651858.CD003908.pub3.
  10. ↑ Cros, D.; Harnden, P.; Pellissier, J. F.; Serratrice, G. (1989). "Muscle hypertrophy in Duchenne muscular dystrophy". Journal of Neurology. 236 (1): 43–47. doi:10.1007/BF00314217. ISSN 0340-5354.

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