friedreich / spinocerebellar ataxia

Question 1

Fredriech Exam Findings

Answer 1

• Ataxic Gait
• Cerebellar Speech
• Nystagmus
• Saccadic ocular pursuit
• Intention Tremor
• Scoliosis
• Pes Cavus
• Absent deep tendon reflexes
• Distal pyramidal weakness
• Upgoing plantars
• Loss of dorsal columns
• Hypertrophic cardiomyopathy
• Atrial Fibrilation
• Glycosuria

Question 2

Spinocerebellar Exam Findings

Answer 2

• Ataxic Gait
• Cerebellar Speech
• Nystagmus
• Saccadic ocular pursuit
• Intention Tremor

Variable upper motor and sensory changes

Question 3

Fredriech Genetics

Answer 3

• prevalence 1:150,000
• inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
• 60 different subtypes have been identified

Question 4

Spinocerebellar Ataxia Genetics

Answer 4

• prevalence 1:150,000
• inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
• 60 different subtypes have been identified