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]

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
• 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