Clinical examination to identify malformations of the big toes typical of Fibrodysplasia Ossificans Progressiva (FOP), in newborns, becomes mandatory during neonatal screening in public and private healthcare networks covered by the Unified Health System (SUS) .
This is what Law No. 15,094 establishes, sanctioned by President Luiz Inácio Lula da Silva this Thursday (9), in Brasília. The text had been approved by the Federal Senate at the end of 2024.
FOP, also known as Progressive Myositis Ossificans, is a rare disease, with a genetic cause, incurable and affecting one in every two million people.
Currently, it is estimated that around four thousand people in the world live with the problem. The condition is characterized by the progressive formation of bones in muscles, tendons, ligaments and other tissues, restricting movement and potentially leading the patient to permanent immobility.
Osssification
The ossification process is generally noticeable in early childhood (0 to 5 years), affecting the movements of the neck, shoulders and limbs. Patients may have difficulty breathing, opening their mouths and even eating.
People with FOP are born with bilaterally malformed big toes (hallux), and approximately 50% also have malformed thumbs. This is an important sign for the disease and especially useful when examining the newborn.
Other congenital signs include malformation of the upper part of the spine (cervical vertebrae) and an abnormally short and thick femoral neck. FOP has no cure, multidisciplinary care and some medications are offered fully and free of charge by the Unified Health System (SUS) and can alleviate signs, symptoms and inflammation.
As it is a rare disease, specialized assistance for children and adolescents diagnosed with FOP is provided in teaching or university hospitals, with therapeutic or rehabilitative treatment, according to the needs of each case, including Specialized Rehabilitation Centers, present in all states.
Current treatment is based on the use of corticosteroids and anti-inflammatories in the acute phase of the disease, in order to limit the inflammatory process.
