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

Gait ataxia and kyphoscoliosis

What is the inheritance pattern of Friedreich's ataxia?

autosomal recessive

What age does Friedreich's ataxia commonly present?

10-15 years old

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

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

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