- Most common form of spinocerebellar degenerative disease
- Slow & progressive spinocerebellar degeneration
- 1: 50000
- autosomal recessive
- male = female
Clinical
Triad – ataxia, areflexia of knees & hands, +ve babinski
- Onset occurs before the age of 25
- Decreased nerve conduction velocity
- Other
- 90% get scoliosis
- loss of U/E & L/E refelexes
- loss of position & vibration sense
- abnormal EKG
- Pes Cavus
- Mean age 7-15 years
- Most individuals in wheelchair by 2-3 decade
- Death by 4th –5th decade secondary to hypertrophic cardiomyopathy, pneumonia or aspiration
Treatment
- Pes Cavovarus
- Weak peroneals & usually rigid
- Can transfer the Tibialis Posterior through the membrane
- Late triple arthrodesis
- Scoliosis
- Essentially all patients
- Similar to idiopathic rather than neuromuscular
- Brace 25-40°
- Surgery between 40-60° depending on age, growth remaining etc
- Generally not required to pelvis