Musculoskeletal toll 'may start at 20' in rare disease

Researchers say their study is the first to characterise X-linked hypophosphataemia over the lifespan

Musculoskeletal problems can start as early as age 20 and gradually accumulate in adults with X-linked hypophosphataemia, a study shows.

X chromosome

The rare inherited disorder is characterised by low serum phosphate, leading to lifelong and progressive musculoskeletal problems.

UK researchers evaluated data on 336 adults with X-linked hypophosphataemia (XLH), including 127 participating in a clinical trial, 209 who completed an online survey, and a subgroup of the online survey