Friedreich's ataxia physical examination: Difference between revisions

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==Physical Examination==
==Physical Examination==
Physical examination of patients with [disease name] is usually normal.


OR
Physical examination of patients with Friedreich’s Ataxia  is usually remarkable for balance difficulty ([[ataxia]]), loss of joint sensation ([[proprioception]]), absence of [[Deep tendon reflex|deep tendon reflexes]].
 
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 Friedreich’s Ataxia usually appear normal.
 
===Vital Signs===
===Vital Signs===
 
*Vital signs of patients with Friedreich’s Ataxia are usually normal.
*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
*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 Friedreich’s Ataxia 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 Friedreich’s ataxia may be remarkable for:
OR
*[[Nystagmus]]
* Abnormalities of the head/hair may include ___
*[[Dysarthria]]
* Evidence of trauma
*Compromised chewing
* Icteric sclera
*Extra-ocular movements of the eyes may be abnormal
* [[Nystagmus]]  
*Decreased [[visual acuity]]
* Extra-ocular movements may be abnormal
*Diffuse [[optic nerve]] pallor in the [[Ophthalmoscopy|ophthalmoscopic]] exam
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
*Hearing acuity may be reduced:
*Ophthalmoscopic exam may be abnormal with findings of ___
**Children with Friedreich ataxia has a higher degree of everyday listening and communication difficulty than the controls.
* Hearing acuity may be reduced
**[[Weber test]] may be abnormal
*[[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 Friedreich's ataxia 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.
*Most patients with advanced Friedreich's ataxia suffer from a [[Restrictive lung disease|restrictive pulmonary syndrome]] of scoliotic origin.
OR
*Some of the findings in the lung examination of the patients with Friedeich's ataxia may be due to [[heart failure]].
* Asymmetric chest expansion OR decreased chest expansion
*Lungs are hyporesonant OR hyperresonant
*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]]


*Findings in lung examination of patients with Friedreich's ataxia may include:
**Asymmetric and decreased chest expansion
**Lungs may be hyporesonant
**Fine [[crackles]] upon auscultation of the lung bases bilaterally due to [[heart failure]]
**[[Wheezing]] also may be present
===Heart===
===Heart===
* Cardiovascular examination of patients with [disease name] is usually normal.
*Cardiovascular examination of patients with examination of patients with Friedreich’s ataxia may be remarkable for:
OR
*Harsh [[systolic murmurs]]
*Chest tenderness upon palpation
*Signs of [[ventricular hypertrophy]]
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heart sound|Added heart sounds]]
*[[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#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.
*Abdominal examination of patients with Friedreich’s ataxia is usually normal.
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.
Back examination of patients with examination of patients with Friedreich’s ataxia may be remarkable for:
OR
*[[Scoliosis]]
*Point tenderness over __ vertebrae (e.g. L3-L4)
**[[Thoracic]]
*Sacral edema
**[[Lumbar]]
*Costovertebral angle tenderness bilaterally/unilaterally
**Thoracolumbar
*Buffalo hump
**Double [[thoracic]]/lumbar


*[[Kyphosis|Hyperkyphosis]]
*Pelvic obliquity
===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
*Genitourinary examination of patients with [disease name] is usually normal.
OR
OR
*A pelvic/adnexal mass may be palpated
*A pelvic/adnexal mass may be palpated
*Inflamed mucosa
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge
*Clear/(color), foul-smelling/odorless penile/vaginal discharge
===Neuromuscular===
===Neuromuscular===
* Neuromuscular examination of patients with [disease name] is usually normal.
*Neuromuscular examination of patients with [disease name] is usually normal.
OR
OR
*Patient is usually oriented to persons, place, and time
*Patient is usually oriented to persons, place, and time
* Altered mental status
*Altered mental status
* Glasgow coma scale is ___ / 15
*Glasgow coma scale is ___ / 15
* Clonus may be present
*Clonus may be present
* Hyperreflexia / hyporeflexia / areflexia
*Hyperreflexia / hyporeflexia / areflexia
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
*Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Muscle rigidity
*Muscle rigidity
* Proximal/distal muscle weakness unilaterally/bilaterally
*Proximal/distal muscle weakness unilaterally/bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*____ (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 upper/lower extremity weakness
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Unilateral/bilateral sensory loss in the upper/lower extremity
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*Normal finger-to-nose test / Dysmetria
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)
*Absent/present dysdiadochokinesia (palm tapping test)
===Extremities===
===Extremities===
* Extremities examination of patients with [disease name] is usually normal.
*Extremities examination of patients with [disease name] is usually normal.
OR
OR
*[[Clubbing]]  
*[[Clubbing]]
*[[Cyanosis]]  
*[[Cyanosis]]
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Muscle atrophy
*Muscle atrophy
*Fasciculations in the upper/lower extremity
*Fasciculations in the upper/lower extremity


*
* Bruises
<gallery widths="150px">
UploadedImage-01.jpg | Description {{dermref}}
UploadedImage-02.jpg | Description {{dermref}}
</gallery>
*
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 18:45, 15 April 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz 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 Friedreich’s Ataxia is usually remarkable for balance difficulty (ataxia), loss of joint sensation (proprioception), absence of deep tendon reflexes.

Appearance of the Patient

  • Patients with Friedreich’s Ataxia usually appear normal.

Vital Signs

  • Vital signs of patients with Friedreich’s Ataxia are usually normal.

Skin

  • Skin examination of patients with Friedreich’s Ataxia is usually normal.

HEENT

HEENT examination of patients with Friedreich’s ataxia may be remarkable for:

  • Nystagmus
  • Dysarthria
  • Compromised chewing
  • Extra-ocular movements of the eyes may be abnormal
  • Decreased visual acuity
  • Diffuse optic nerve pallor in the ophthalmoscopic exam
  • Hearing acuity may be reduced:
    • Children with Friedreich ataxia has a higher degree of everyday listening and communication difficulty than the controls.
    • Weber test may be abnormal

Neck

  • Neck examination of patients with Friedreich's ataxia is usually normal.

Lungs

  • Most patients with advanced Friedreich's ataxia suffer from a restrictive pulmonary syndrome of scoliotic origin.
  • Some of the findings in the lung examination of the patients with Friedeich's ataxia may be due to heart failure.
  • Findings in lung examination of patients with Friedreich's ataxia may include:
    • Asymmetric and decreased chest expansion
    • Lungs may be hyporesonant
    • Fine crackles upon auscultation of the lung bases bilaterally due to heart failure
    • Wheezing also may be present

Heart

Abdomen

  • Abdominal examination of patients with Friedreich’s ataxia is usually normal.

Back

Back examination of patients with examination of patients with Friedreich’s ataxia may be remarkable for:

Genitourinary

  • Genitourinary examination of patients with [disease name] is usually normal.

OR

  • A pelvic/adnexal mass may be palpated
  • Inflamed mucosa
  • Clear/(color), foul-smelling/odorless penile/vaginal discharge

Neuromuscular

  • Neuromuscular examination of patients with [disease name] is usually normal.

OR

  • 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 examination of patients with [disease name] is usually normal.

OR

  • Clubbing
  • Cyanosis
  • Pitting/non-pitting edema of the upper/lower extremities
  • Muscle atrophy
  • Fasciculations in the upper/lower extremity
  • Bruises

References

Template:WH Template:WS

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