- Progressive impairment and developmental delays seen in girls 6-18 months
- Genetics
- MECP2 gene mutation
- 95% de novo mutation
- mutation is on male copy of X chromosome
- Sex
- male fetuses (only 1 X chromosome) do not survive to term
- female fetuses (1 mutated gene, 1 normal gene) survive and manifest disease
- Syndrome characteristics
- medical
- progressive impairment and development delays
- orthopaedic
- spasticity and resulting joint contractures
- ataxia
- hypotonia
- bruxism (grinding of teeth)
- chorea (abnormal hand movement)
- scoliosis with C-shaped curve
- does not respond to bracing
- instrumentation must include entire scoliotic and kyphotic curve
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