Friedreich's ataxia physical examination

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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

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

  • Patient is usually oriented to persons, place, and time.
  • Neuromuscular examination of patients with Friedreich’s ataxia may be remarkable for:
    • Spasticity and hyperreflexia in the legs
    • Gait ataxia
    • Dysmetria of arms and legs
    • Head titubation
    • Atrophy and weakness of the distal extremities
    • Absence of muscle stretch reflexes
    • Babinski signs
    • Loss of joint and vibratory senses
    • Superimposed stocking-and-glove type sensory neuropathy
    • Dysarthria
    • Clumsiness
    • Foot deformity (pes cavus)
    • Hyperreflexia / hyporeflexia / areflexia
    • Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
    • Muscle rigidity
    • Unilateral tremor

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

  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. 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.

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