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
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:
- 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 and extremities
- Patient is usually oriented to persons, place, and time.
- Neuromuscular examination of patients with Friedreich’s ataxia may be remarkable for:[10][12][13][14]
- 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
- Muscle rigidity
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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.