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Osteogenesis imperfecta (brittle bone disease)

Osteogenesis imperfecta · Osteogenesis imperfecta (nemoc křehkých kostí)

What it is

A fault in a collagen gene makes bones break easily — from a few fractures in a lifetime to hundreds before birth.

Symptoms & signs

  • Fractures from little force
  • short stature and bowed bones
  • blue-grey whites of the eyes
  • hearing loss in adulthood
  • loose joints and weak teeth

🚩 Get help if…

  • call 112 / 911 now Weakness, numbness or headache with neck pain
  • call 112 / 911 now Breathlessness or chest pain
  • see a doctor soon Pain, swelling or bending of a limb after a knock
  • see a doctor soon Hearing getting worse

Where it strikes

Medical treatment

  • Bisphosphonates (pamidronate, zoledronate) in children
  • telescopic rods in the long bones
  • physiotherapy and safe handling
  • hearing aids and dental care

Natural & lifestyle

  • Swimming and safe exercise
  • enough calcium and vitamin D
  • a safe home to prevent falls

Emerging & experimental

  • Setrusumab (anti-sclerostin) in trials
  • denosumab
  • gene and stem-cell therapy (BOOST)

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Calcium megadoses — no benefit beyond having enough anecdotal / traditional
  • Magnet therapy and 'bone-healing frequencies' — anecdotal anecdotal / traditional

ICD codes