Myositis ossificans progressiva, multiple sites Save
ICD-10 code: M61.19
Chapter: Diseases of the musculoskeletal system and connective tissue
Myositis ossificans progressiva, multiple sites
Myositis ossificans progressiva, also known as fibrodysplasia ossificans progressiva (FOP), is a rare genetic disorder that causes bone formation in muscles, tendons, and other connective tissues. This condition affects multiple sites in the body and can lead to significant disability and reduced quality of life.
FOP is caused by a mutation in the ACVR1 gene, which controls bone formation and growth. This mutation causes the body to produce too much bone tissue, leading to the formation of bone outside the skeleton in soft tissues such as muscles, tendons, and ligaments.
One of the most challenging aspects of FOP is that it can affect multiple sites in the body. The most common sites of bone formation are the neck, back, and limbs, but bone growth can also occur in the jaw, eyes, and other organs. This can lead to a range of symptoms, including joint stiffness, limited mobility, difficulty breathing and swallowing, and vision problems.
- Diagnosis: FOP is typically diagnosed based on clinical findings, including a history of progressive heterotopic ossification, a characteristic physical exam, and genetic testing to confirm the presence of the ACVR1 mutation.
- Treatment: There is no cure for FOP, and treatment options are limited. Surgery to remove the extra bone growth can lead to more bone formation and is generally not recommended. Medications such as corticosteroids and bisphosphonates may help manage symptoms, but their effectiveness is limited.
- Prognosis: The prognosis for FOP is poor, with most individuals experiencing significant disability and reduced life expectancy.
Although FOP is a rare condition, it can have a significant impact on the lives of those affected. Early diagnosis and management of symptoms can help improve quality of life and reduce complications. If you suspect that you or a loved one may have FOP, speak to your healthcare provider about genetic testing and treatment options.