Friedreich’s ataxia

Definition and classification

• What is Friedreich’s ataxia? A, hs99
• What are the different types of hereditary ataxia? Hs99

Epidemiology

• Q

Etiology and Pathophysiology

• What do you know about the genetics of Friedreich’s ataxia? Hs99
• What are the sites of lesion in Friedreich’s ataxia? A, hs99
• Why absent tendon reflex, but extensor plantar response? A
• What are the causes of pes cavus? A, hs99
• What are the causes of combined cerebellar, pyramidal and dorsal column signs? A, hs99

Clinical manifestations

• What are the features of Friedreich’s ataxia? A, hs99

Examinations

• Q

Investigations

• What investigations should be done in Freidreich’s ataxia? a

Diagnosis

• What are your differential diagnoses? A
• Why is this cause not multiple sclerosis? Hs99
• What are the different types of hereditary ataxias? a

Treatment

• Q

Complications

• Q