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

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].

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 of patients with Friedreich’s Ataxia is usually remarkable for balance difficulty (ataxia), loss of joint sensation (proprioception), absence of deep tendon reflexes.

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
• Dysarthria
• Compromised chewing
• Extra-ocular movements of the eyes may be abnormal
• Decreased visual acuity
• Diffuse optic nerve pallor in the ophthalmoscopic exam
• Hearing acuity may be reduced:
  • 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.
• Some of the findings in the lung examination of the patients with Friedeich's ataxia may be due to heart failure.

• Findings in lung examination of patients with Friedreich's ataxia may include:
  • Asymmetric and decreased chest expansion
  • Lungs may be hyporesonant
  • Fine crackles upon auscultation of the lung bases bilaterally due to heart failure
  • Wheezing also may be present

Heart

• 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
• 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:

• Scoliosis
  • Thoracic
  • Lumbar
  • Thoracolumbar
  • Double thoracic/lumbar

• Hyperkyphosis
• Pelvic obliquity

Genitourinary

• Genitourinary examination of patients with [disease name] is usually normal.

OR

• A pelvic/adnexal mass may be palpated
• Inflamed mucosa
• Clear/(color), foul-smelling/odorless penile/vaginal discharge

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

• Description (Adapted from Dermatology Atlas)
  Description (Adapted from Dermatology Atlas)
• 
  Description (Adapted from Dermatology Atlas)