genetic

Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva, also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare disease. Fibrous connective tissue such as muscle, tendons, and ligaments ossify into bone tissue. The condition ultimately immobilises sufferers, as new bone replaces musculature and fuses with the existing skeleton. This has earned FOP the nickname "stone man disease".

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Symptoms — what it feels like

·Continuous bone growth

Causes — why it happens

·Heterozygous activating in the ACVR1 gene

How it's found

·Heterotopic ossification, ACVR1 sequencing

Treatment

·Targeted therapy and supportive care

Complications

·Joint immobility, dysphagia, thoracic insufficiency

Outlook

·Median life expectancy is around 40 years old (if properly managed)

More in Bones

Osteoporosis Fractures Rickets / osteomalacia Bone cancer Paget's disease of bone Osteomyelitis Scoliosis Osteopenia Avascular necrosis Spinal stenosis Kyphosis Bone (osteo)sarcoma

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Plain-language summary adapted from Wikipedia. Not medical advice.