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:
- Nystagmus[1]
- Dysarthria[2]
- Extra-ocular movements of the eyes may be abnormal[3]
- Decreased visual acuity[3]
- Diffuse optic nerve pallor in the ophthalmoscopic exam[3]
- Hearing acuity may be reduced:[4]
- 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.[5]
- Some of the findings in the lung examination of the patients with Friedeich's ataxia may be due to heart failure.[6]
Heart
- Cardiovascular examination of patients with examination of patients with Friedreich’s ataxia may be remarkable for:[7][8]
- Harsh systolic murmurs
- Signs of ventricular hypertrophy
- Added heart sounds
- S4
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]
- Hyperkyphosis
- Pelvic obliquity
Genitourinary
- Genitourinary examination of patients with Friedreich’s ataxia is usually normal.
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
- ↑ 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.
- ↑ 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.
- ↑ 3.0 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.