All::Neurology::Diseases::Friedreich's ataxia

Study All (5) Add to study queue (5)

Intro

Study Intro (5) Add to study queue (5)

What is the common presenting features of Friedreich's ataxia?

Gait ataxia and kyphoscoliosis

Friedreich's ataxia

What is the inheritance pattern of Friedreich's ataxia?

autosomal recessive

Friedreich's ataxia

What age does Friedreich's ataxia commonly present?

10-15 years old

Friedreich's ataxia

What are the main Neurological features of Friedreich's ataxia?

  • absent ankle jerks/extensor plantars
  • cerebellar ataxia
  • optic atrophy
  • spinocerebellar tract degeneration

Friedreich's ataxia

What are the non-Neurological features of Friedreich's ataxia?

  • hypertrophic obstructive cardiomyopathy (90%, most common cause of death)
  • diabetes mellitus (10-20%)
  • high-arched palate

Friedreich's ataxia