Friedreich's ataxia physical examination: Difference between revisions

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==Overview==
==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 [[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]].
==Physical Examination==
==Physical Examination==


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===Heart===
===Heart===
*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>
*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>
*Harsh [[systolic murmurs]]
**Harsh [[systolic murmurs]]
*Signs of [[ventricular hypertrophy]]
**Signs of [[ventricular hypertrophy]]
*[[Heart sound|Added heart sounds]]
**[[Heart sound|Added heart sounds]]
*[[Heart sounds#Fourth heart sound S4|S4]]
**[[Heart sounds#Fourth heart sound S4|S4]]


===Abdomen===
===Abdomen===
Line 53: Line 53:
===Genitourinary===
===Genitourinary===
*Genitourinary examination of patients with Friedreich’s ataxia is usually normal.
*Genitourinary examination of patients with Friedreich’s ataxia is usually normal.
===Neuromuscular===
===Neuromuscular and extremities===
*Neuromuscular examination of patients with [disease name] is usually normal.
*Patient is usually oriented to persons, place, and time.
OR
*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>
*Patient is usually oriented to persons, place, and time
**[[Spasticity]]
*Altered mental status
**[[Gait ataxia]]
*Glasgow coma scale is ___ / 15
**[[Dysmetria]] of arms and legs
*Clonus may be present
**Head titubation
*Hyperreflexia / hyporeflexia / areflexia
**Atrophy and weakness of the distal extremities
*Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
**Absence of muscle stretch reflexes
*Muscle rigidity
**Loss of joint and vibratory senses
*Proximal/distal muscle weakness unilaterally/bilaterally
**Superimposed stocking-and-glove type sensory [[neuropathy]]
*____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
**[[Dysarthria]]
*Unilateral/bilateral upper/lower extremity weakness
**[[Dyspraxia]]
*Unilateral/bilateral sensory loss in the upper/lower extremity
**[[Foot deformity]] ([[pes cavus]])
*Positive straight leg raise test
**[[Hyperreflexia]] / [[hyporeflexia]] / [[areflexia]]
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
**Positive (abnormal) [[Babinski's Reflex|Babinski]] reflex bilaterally
*Positive/negative Trendelenburg sign
**[[Muscle rigidity]]
*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==
==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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