M61.18

Clinical Causes: Genetic mutation in the ACVR1 gene, which controls bone growth and development. Inheritated autosomal dominant pattern, meaning only one copy of the mutated gene can cause the disorder. Trauma or injury may trigger or worsen episodes of abnormal bone formation, but it is not the root cause. Environmental factors do not play a known role in the development of this condition.

Key Symptoms: Gradual formation of bone in soft tissues such as muscles and tendons that are not normally ossified. Progressive loss of mobility, especially in joints like shoulders, hips, and neck. Swelling and pain often before visible bone formation, sometimes mistaken for inflammation or tumors. Bony bridges may form between bones, leading to joint fixation and deformity. Potential difficulty with speech, swallowing, or breathing if chest or neck tissues are affected.

Diagnosis Path: Medical history review revealing early signs, family history, and characteristic features. Physical examination to detect soft tissue swelling and reduced range of motion. Imaging studies such as X-rays, CT scans, or MRI scans showing heterotopic ossification in soft tissues. Genetic testing for mutations in the ACVR1 gene to confirm diagnosis. Differential diagnosis to distinguish from other soft tissue tumors or inflammatory conditions.

Treatment Protocols: Currently, there is no cure for Myositis Ossificans Progressiva; management aims to control symptoms and preserve mobility. Use of medications such as corticosteroids during flare-ups to reduce inflammation. Physical therapy may be helpful to maintain joint flexibility but must be carefully managed to avoid tissue injury. Surgical removal of ossified tissue is generally avoided, as it can trigger additional bone growth. Preventive measures include avoiding trauma or injuries, as they can exacerbate the condition. Supportive therapies, including pain management and mobility aids, to improve quality of life.