Proactive monitoring, early intervention, and individualized management to optimize the musculoskeletal health and quality of life for individuals with RTT is important.
Key Highlights:
Musculoskeletal Challenges in RTT:
- Hypotonia and Weakness: Early stages often present with low muscle tone; hypertonia (e.g., dystonia, rigidity) emerges later in life.
- Gait Abnormalities: Unsteady gait, toe-walking, and shuffling are common in those who can walk. Loss of ambulation is typical during the "late motor deterioration phase."
- Deformities: Neurological impairments and muscle imbalances lead to contractures, joint deformities, bony torsion, and degenerative arthritis.
