TLDR Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
Fibrodysplasia Ossificans Progressiva (FOP) was described as a rare genetic disorder caused by mutations in the ACVR1/ALK2 gene, leading to progressive heterotopic ossification and features resembling accelerated aging. The median lifespan for individuals with FOP was approximately 56 years. Progeroid features included osteoarthritis, hearing loss, alopecia, subcutaneous lipodystrophy, myelination defects, heightened inflammation, and menstrual abnormalities, primarily due to dysregulated BMP signaling and secondary effects from immobilization. The study suggested that FOP could provide insights into normal aging mechanisms and potential therapeutic targets. There were no curative treatments, and management focused on symptomatic relief and preventing complications.
1 citations,
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