An Evidence-based Physical Therapy Prescription for Adults With X-linked Hypophosphatemia

Area of Science:

• Metabolic bone disorders
• Physical therapy and rehabilitation
• Genetics and rare diseases

Background:

• X-linked hypophosphatemia (XLH) is a rare, progressive metabolic disorder causing significant lifelong musculoskeletal issues and physical disability.
• Current management lacks disease-specific physical therapy (PT) recommendations, hindering patient engagement and confidence in daily activities.
• Existing PT approaches do not adequately address the unique challenges faced by adult XLH patients.

Purpose of the Study:

• To develop an evidence-based, patient-centered physical therapy (PT) program for adults with X-linked hypophosphatemia (XLH).
• To address identified gaps in managing adult XLH by creating tailored exercise recommendations.
• To ensure the developed PT program does not impose unintended harm on participants.

Main Methods:

• Program development informed by a prior clinical study on adult XLH physical and functional effects.
• Guided by participant intake data, patient goals, and active range of motion (ROM) assessments.
• Weekly standardized interviews and validated functional tools assessed progression, gains, and concerns.

Main Results:

• A 12-week remote PT program incorporating open and closed kinetic-chain exercises was created and implemented.
• Documented functional improvements and increased patient confidence in performing activities of daily living (ADL).
• Minimal gains in active ROM were noted, consistent with characteristic bony restrictions in XLH.

Conclusions:

• This study presents the first disease-specific PT recommendations for adult X-linked hypophosphatemia (XLH).
• The program aims to mitigate unique physical challenges and can be adapted to individual patient progression.
• These recommendations offer a novel approach to managing the physical and functional limitations associated with XLH.