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Physical function and physical activity in adults with X-linked hypophosphatemia.

G Orlando1, J Bubbear2, S Clarke3

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Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
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PubMed
Summary

Adults with X-linked hypophosphatemia (XLH) experience significant declines in physical function, mobility, and muscle power. Low physical activity levels are common and may worsen these deficits, necessitating further research into effective treatments.

Keywords:
Musculoskeletal functionPhysical activity and disabilityX-linked hypophosphatemia

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Area of Science:

  • Orthopedics and Musculoskeletal Diseases
  • Genetics and Genetic Diseases
  • Metabolic Diseases

Background:

  • Limited research exists on the physical function and activity levels of adults with X-linked hypophosphatemia (XLH).
  • This study aimed to describe muscle strength, power, functional capacity, mobility, and physical activity in adults with XLH.
  • The study also explored the interrelationships among these physical parameters in the XLH population.

Purpose of the Study:

  • To characterize physical function and activity in UK adults diagnosed with X-linked hypophosphatemia (XLH).
  • To investigate the prevalence of impaired mobility and low physical activity in this patient group.
  • To identify potential contributing factors to the loss of physical function in adults with XLH.

Main Methods:

  • A prospective cohort study (the RUDY Study) recruited 26 adults with XLH from the UK.
  • Assessments included handgrip strength, jump power (mechanography), the six-minute walk test (6MWT), and the Short Physical Performance Battery (SPPB).
  • The International Physical Activity Questionnaire (IPAQ) was used to measure physical activity levels, with data analyzed using parametric/non-parametric tests and univariate correlation analysis.

Main Results:

  • Adults with XLH exhibited significantly lower jump power (54.4% deficit) and 6MWT distances (38.6% deficit) compared to normative values.
  • Deficits in lower limb muscle power were more pronounced than functional capacity limitations.
  • A significant positive correlation was found between total physical activity and muscle power (r=0.545, p=0.019).

Conclusions:

  • Adults with XLH demonstrate substantial deficits in lower limb muscle power and functional capacity, alongside high rates of impaired mobility and physical inactivity.
  • Reduced physical activity may exacerbate the muscle power deficits observed in XLH, beyond the direct metabolic effects of the condition.
  • Further research is warranted to develop innovative therapeutic strategies aimed at enhancing physical function and mobility in individuals with XLH.