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.

Scoliosis and Kyphosis:

• Epidemiology: Scoliosis is present in over 50% of individuals with RTT, often appearing by age 11 and progressing rapidly. Kyphosis is also observed but less systematically studied.
• Management: Includes conservative measures like bracing and physiotherapy and surgical options such as posterior spinal fusion for Cobb angles >40–50°.
• Surgical Outcomes: Improvements in sitting balance, reduced respiratory complications, and enhanced quality of life have been documented.

Hip Dysplasia:

• Prevalence and Risk Factors: Hip subluxation or dislocation affects up to 37% of girls with RTT, typically manifesting after the loss of ambulation.
• Assessment: Radiographic evaluation with migration percentage >30% warrants orthopedic referral.
• Management: Early surgical intervention (e.g., adductor tendonotomy, VDRO) is critical to prevent dislocation and associated pain.

Foot Deformities:

• Characteristics: Early plantarflexor tone issues evolve into progressive dystonia and contractures, complicating ambulation.
• Treatment: Strategies range from physiotherapy and orthotics to botulinum toxin injections and, rarely, surgical corrections.

Fractures and Osteoporosis:

• Risk Factors: Low bone mineral density due to decreased physical activity, nutritional deficits, and anticonvulsant use increases fracture risk.
• Management: Focus on rapid rehabilitation to minimize mobility restrictions, with operative stabilization for displaced fractures.

Preventative and Long-Term Strategies:

• Physical Activity: Maintains muscle strength, bone health, and ambulation.
• Nutritional Support: Adequate calcium and vitamin D intake are essential.
• Regular Surveillance: Routine assessments of the spine, hips, and feet to detect and address issues early.

Knowledge Gaps:

• Research Needs: Longitudinal studies on genotype-phenotype relationships, conservative intervention impacts, and long-term surgical outcomes are required.
• Population Data: Better population-based data can refine management guidelines.