Friedreich's ataxia physical examination: Difference between revisions

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==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].
HEENT examination of patients with Friedreich’s ataxia may be remarkable for: [[Nystagmus]], dysarthria, abnormal extra-ocular movements of the eyes, decreased visual acuity and diffuse optic nerve pallor in the [[Ophthalmoscopy|ophthalmoscopic]] exam. Hearing acuity also may be reduced. Most patients with advanced Friedreich's ataxia suffer from a [[Restrictive lung disease|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]].Some of the findings in the lung examination of the patients with Friedeich's ataxia may be due to [[heart failure]]. Cardiovascular examination of patients with examination of patients with Friedreich’s ataxia may be remarkable for: Harsh [[systolic murmurs]], signs of [[ventricular hypertrophy]], added heart sounds and loud [[Heart sounds#Fourth heart sound S4|S4]]. Back examination of patients with examination of patients with Friedreich’s ataxia may be remarkable for: [[Scoliosis]], [[Kyphosis|hyperkyphosis]] and pelvic obliquity. Neuromuscular examination of patients with Friedreich’s ataxia may be remarkable for: [[Spasticity]], [[Gait ataxia]], [[Dysmetria]] of arms and legs, head titubation, atrophy and weakness of the distal extremities, absence of muscle stretch reflexes, loss of joint and vibratory senses, superimposed stocking-and-glove type sensory [[neuropathy]], [[Dysarthria]], [[Dyspraxia]], [[Foot deformity]] ([[pes cavus]]), [[Hyperreflexia]] / [[hyporeflexia]] / [[areflexia]], positive (abnormal) [[Babinski's Reflex|Babinski]] reflex bilaterally and [[Muscle rigidity]].
 
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.
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].
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]], harsh [[systolic murmurs]] and signs of cardiac [[ventricular hypertrophy]].


===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]]<ref name="pmid14795231">{{cite journal |vauthors=GORMAN WF, BROCK S, KESTENBAUM A |title=Periodic alternating nystagmus in Friedreich's ataxia |journal=J. Nerv. Ment. Dis. |volume=112 |issue=5 |pages=437–9 |date=November 1950 |pmid=14795231 |doi= |url=}}</ref>
* Abnormalities of the head/hair may include ___
*[[Dysarthria]]<ref name="pmid17365084">{{cite journal |vauthors=Blaney B, Hewlett N |title=Dysarthria and Friedreich's ataxia: what can intelligibility assessment tell us? |journal=Int J Lang Commun Disord |volume=42 |issue=1 |pages=19–37 |date=2007 |pmid=17365084 |doi=10.1080/13682820600690993 |url=}}</ref>
* Evidence of trauma
*Extra-ocular movements of the eyes may be abnormal<ref name="pmid22094302">{{cite journal |vauthors=Noval S, Contreras I, Sanz-Gallego I, Manrique RK, Arpa J |title=Ophthalmic features of Friedreich ataxia |journal=Eye (Lond) |volume=26 |issue=2 |pages=315–20 |date=February 2012 |pmid=22094302 |pmc=3272198 |doi=10.1038/eye.2011.291 |url=}}</ref>
* Icteric sclera
*Decreased [[visual acuity]]<ref name="pmid22094302">{{cite journal |vauthors=Noval S, Contreras I, Sanz-Gallego I, Manrique RK, Arpa J |title=Ophthalmic features of Friedreich ataxia |journal=Eye (Lond) |volume=26 |issue=2 |pages=315–20 |date=February 2012 |pmid=22094302 |pmc=3272198 |doi=10.1038/eye.2011.291 |url=}}</ref>
* [[Nystagmus]]  
*Diffuse [[optic nerve]] pallor in the [[Ophthalmoscopy|ophthalmoscopic]] exam<ref name="pmid22094302">{{cite journal |vauthors=Noval S, Contreras I, Sanz-Gallego I, Manrique RK, Arpa J |title=Ophthalmic features of Friedreich ataxia |journal=Eye (Lond) |volume=26 |issue=2 |pages=315–20 |date=February 2012 |pmid=22094302 |pmc=3272198 |doi=10.1038/eye.2011.291 |url=}}</ref>
* Extra-ocular movements may be abnormal
*Hearing acuity may be reduced:<ref name="pmid22752495">{{cite journal |vauthors=Rance G, Corben L, Delatycki M |title=Auditory processing deficits in children with Friedreich ataxia |journal=J. Child Neurol. |volume=27 |issue=9 |pages=1197–203 |date=September 2012 |pmid=22752495 |doi=10.1177/0883073812448963 |url=}}</ref>
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
**Children with Friedreich ataxia has a higher degree of everyday listening and communication difficulty than the controls.
*Ophthalmoscopic exam may be abnormal with findings of ___
**[[Weber test]] may be abnormal
* 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 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.<ref name="pmid487304">{{cite journal |vauthors=Begin R, Lupien L, Bureau MA, Labbe J, Lemieux B |title=Regulation of respiration in Friedreich's ataxia |journal=Can J Neurol Sci |volume=6 |issue=2 |pages=159–65 |date=May 1979 |pmid=487304 |doi= |url=}}</ref>
OR
*Some of the findings in the lung examination of the patients with Friedeich's ataxia may be due to [[heart failure]].<ref name="pmid30705738">{{cite journal |vauthors=Hanson E, Sheldon M, Pacheco B, Alkubeysi M, Raizada V |title=Heart disease in Friedreich's ataxia |journal=World J Cardiol |volume=11 |issue=1 |pages=1–12 |date=January 2019 |pmid=30705738 |pmc=6354072 |doi=10.4330/wjc.v11.i1.1 |url=}}</ref>
* 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]]


===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:<ref name="pmid21691434">{{cite journal |vauthors=Payne RM |title=The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications |journal=Prog. Pediatr. Cardiol. |volume=31 |issue=2 |pages=103–109 |date=May 2011 |pmid=21691434 |pmc=3117664 |doi=10.1016/j.ppedcard.2011.02.007 |url=}}</ref><ref name="pmid17622372">{{cite journal |vauthors=Giugliano GR, Sethi PS |title=Friedreich's ataxia as a cause of premature coronary artery disease |journal=Tex Heart Inst J |volume=34 |issue=2 |pages=214–7 |date=2007 |pmid=17622372 |pmc=1894724 |doi= |url=}}</ref>
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]]
**[[Heart sounds#Fourth heart sound S4|S4]]
*[[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.
*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:<ref name="pmid18388721">{{cite journal |vauthors=Milbrandt TA, Kunes JR, Karol LA |title=Friedreich's ataxia and scoliosis: the experience at two institutions |journal=J Pediatr Orthop |volume=28 |issue=2 |pages=234–8 |date=March 2008 |pmid=18388721 |doi=10.1097/BPO.0b013e318164fa79 |url=}}</ref><ref name="pmid22529092">{{cite journal |vauthors=Tsirikos AI, Smith G |title=Scoliosis in patients with Friedreich's ataxia |journal=J Bone Joint Surg Br |volume=94 |issue=5 |pages=684–9 |date=May 2012 |pmid=22529092 |doi=10.1302/0301-620X.94B5.28391 |url=}}</ref><ref name="pmid3957980">{{cite journal |vauthors=Labelle H, Tohmé S, Duhaime M, Allard P |title=Natural history of scoliosis in Friedreich's ataxia |journal=J Bone Joint Surg Am |volume=68 |issue=4 |pages=564–72 |date=April 1986 |pmid=3957980 |doi= |url=}}</ref>
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 Friedreich’s ataxia is usually normal.
OR
===Neuromuscular and extremities===
*A pelvic/adnexal mass may be palpated
*Patient is usually oriented to persons, place, and time.
*Inflamed mucosa
*Neuromuscular examination of patients with Friedreich’s ataxia may be remarkable for:<ref name="pmid22529092">{{cite journal |vauthors=Tsirikos AI, Smith G |title=Scoliosis in patients with Friedreich's ataxia |journal=J Bone Joint Surg Br |volume=94 |issue=5 |pages=684–9 |date=May 2012 |pmid=22529092 |doi=10.1302/0301-620X.94B5.28391 |url=}}</ref><ref name="pmid21315377">{{cite journal |vauthors=Koeppen AH |title=Friedreich's ataxia: pathology, pathogenesis, and molecular genetics |journal=J. Neurol. Sci. |volume=303 |issue=1-2 |pages=1–12 |date=April 2011 |pmid=21315377 |pmc=3062632 |doi=10.1016/j.jns.2011.01.010 |url=}}</ref><ref name="pmid23587934">{{cite journal |vauthors=Richardson TE, Kelly HN, Yu AE, Simpkins JW |title=Therapeutic strategies in Friedreich's ataxia |journal=Brain Res. |volume=1514 |issue= |pages=91–7 |date=June 2013 |pmid=23587934 |pmc=4461031 |doi=10.1016/j.brainres.2013.04.005 |url=}}</ref><ref name="pmid12244768">{{cite journal |vauthors=van de Warrenburg BP, Knoers NV, Kremer HP |title=[Friedrich's ataxia: clinical difficulties and genetic possibilities] |language=Dutch; Flemish |journal=Ned Tijdschr Geneeskd |volume=146 |issue=36 |pages=1669–72 |date=September 2002 |pmid=12244768 |doi= |url=}}</ref>
*Clear/(color), foul-smelling/odorless penile/vaginal discharge
**[[Spasticity]]
 
**[[Gait ataxia]]
===Neuromuscular===
**[[Dysmetria]] of arms and legs
* Neuromuscular examination of patients with [disease name] is usually normal.
**Head titubation
OR
**Atrophy and weakness of the distal extremities
*Patient is usually oriented to persons, place, and time
**Absence of muscle stretch reflexes
* Altered mental status
**Loss of joint and vibratory senses
* Glasgow coma scale is ___ / 15
**Superimposed stocking-and-glove type sensory [[neuropathy]]
* Clonus may be present
**[[Dysarthria]]
* Hyperreflexia / hyporeflexia / areflexia
**[[Dyspraxia]]
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
**[[Foot deformity]] ([[pes cavus]])
* Muscle rigidity
**[[Hyperreflexia]] / [[hyporeflexia]] / [[areflexia]]
* Proximal/distal muscle weakness unilaterally/bilaterally
**Positive (abnormal) [[Babinski's Reflex|Babinski]] reflex bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
**[[Muscle rigidity]]
*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


==References==
==References==

Latest revision as of 21:51, 22 May 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

HEENT examination of patients with Friedreich’s ataxia may be remarkable for: Nystagmus, dysarthria, abnormal extra-ocular movements of the eyes, decreased visual acuity and diffuse optic nerve pallor in the ophthalmoscopic exam. Hearing acuity also may be reduced. 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.Some of the findings in the lung examination of the patients with Friedeich's ataxia may be due to heart failure. Cardiovascular examination of patients with examination of patients with Friedreich’s ataxia may be remarkable for: Harsh systolic murmurs, signs of ventricular hypertrophy, added heart sounds and loud S4. Back examination of patients with examination of patients with Friedreich’s ataxia may be remarkable for: Scoliosis, hyperkyphosis and pelvic obliquity. Neuromuscular examination of patients with Friedreich’s ataxia may be remarkable for: Spasticity, Gait ataxia, Dysmetria of arms and legs, head titubation, atrophy and weakness of the distal extremities, absence of muscle stretch reflexes, loss of joint and vibratory senses, superimposed stocking-and-glove type sensory neuropathy, Dysarthria, Dyspraxia, Foot deformity (pes cavus), Hyperreflexia / hyporeflexia / areflexia, positive (abnormal) Babinski reflex bilaterally and Muscle rigidity.

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, harsh systolic murmurs and signs of cardiac ventricular hypertrophy.

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:

Neck

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

Lungs

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:[9][10][11]

Genitourinary

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

Neuromuscular and extremities

References

  1. ↑ GORMAN WF, BROCK S, KESTENBAUM A (November 1950). "Periodic alternating nystagmus in Friedreich's ataxia". J. Nerv. Ment. Dis. 112 (5): 437–9. PMID 14795231.
  2. ↑ Blaney B, Hewlett N (2007). "Dysarthria and Friedreich's ataxia: what can intelligibility assessment tell us?". Int J Lang Commun Disord. 42 (1): 19–37. doi:10.1080/13682820600690993. PMID 17365084.
  3. ↑ 3.0 3.1 3.2 Noval S, Contreras I, Sanz-Gallego I, Manrique RK, Arpa J (February 2012). "Ophthalmic features of Friedreich ataxia". Eye (Lond). 26 (2): 315–20. doi:10.1038/eye.2011.291. PMC 3272198. PMID 22094302.
  4. ↑ Rance G, Corben L, Delatycki M (September 2012). "Auditory processing deficits in children with Friedreich ataxia". J. Child Neurol. 27 (9): 1197–203. doi:10.1177/0883073812448963. PMID 22752495.
  5. ↑ Begin R, Lupien L, Bureau MA, Labbe J, Lemieux B (May 1979). "Regulation of respiration in Friedreich's ataxia". Can J Neurol Sci. 6 (2): 159–65. PMID 487304.
  6. ↑ Hanson E, Sheldon M, Pacheco B, Alkubeysi M, Raizada V (January 2019). "Heart disease in Friedreich's ataxia". World J Cardiol. 11 (1): 1–12. doi:10.4330/wjc.v11.i1.1. PMC 6354072. PMID 30705738.
  7. ↑ Payne RM (May 2011). "The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications". Prog. Pediatr. Cardiol. 31 (2): 103–109. doi:10.1016/j.ppedcard.2011.02.007. PMC 3117664. PMID 21691434.
  8. ↑ Giugliano GR, Sethi PS (2007). "Friedreich's ataxia as a cause of premature coronary artery disease". Tex Heart Inst J. 34 (2): 214–7. PMC 1894724. PMID 17622372.
  9. ↑ Milbrandt TA, Kunes JR, Karol LA (March 2008). "Friedreich's ataxia and scoliosis: the experience at two institutions". J Pediatr Orthop. 28 (2): 234–8. doi:10.1097/BPO.0b013e318164fa79. PMID 18388721.
  10. ↑ 10.0 10.1 Tsirikos AI, Smith G (May 2012). "Scoliosis in patients with Friedreich's ataxia". J Bone Joint Surg Br. 94 (5): 684–9. doi:10.1302/0301-620X.94B5.28391. PMID 22529092.
  11. ↑ Labelle H, Tohmé S, Duhaime M, Allard P (April 1986). "Natural history of scoliosis in Friedreich's ataxia". J Bone Joint Surg Am. 68 (4): 564–72. PMID 3957980.
  12. ↑ Koeppen AH (April 2011). "Friedreich's ataxia: pathology, pathogenesis, and molecular genetics". J. Neurol. Sci. 303 (1–2): 1–12. doi:10.1016/j.jns.2011.01.010. PMC 3062632. PMID 21315377.
  13. ↑ Richardson TE, Kelly HN, Yu AE, Simpkins JW (June 2013). "Therapeutic strategies in Friedreich's ataxia". Brain Res. 1514: 91–7. doi:10.1016/j.brainres.2013.04.005. PMC 4461031. PMID 23587934.
  14. ↑ van de Warrenburg BP, Knoers NV, Kremer HP (September 2002). "[Friedrich's ataxia: clinical difficulties and genetic possibilities]". Ned Tijdschr Geneeskd (in Dutch; Flemish). 146 (36): 1669–72. PMID 12244768.

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