Fisioterapia precoce na Síndrome de Freeman-Sheldon: relato de caso

Abstract

Freeman-Sheldonn Syndrome (FSS) is a rare condition that presents as autosomal dominant due to mutations in the embryonic myosin heavy chain (MYH3). Individuals with FSS develop contractures that lead to motor and respiratory impairments and difficulties in eating. Physiotherapy can act in the prevention of skeletal deformities, muscle rebalance and in the improvement of respiratory function, thus aiming to promote more functionality for the patient. This study aimed to report a case of physiotherapy in the FSS. This is the first case report of an infant with FSS seen at a teaching clinic twice a week, lasting 1 hour each session, for a period of two consecutive months. The care protocol was built based on the assessment of the infant's primary and secondary disabilities, from which the functional goals (short, medium and long term) were pre-established and the activities developed aimed at functional improvement. The performance of physiotherapy in the FSS over a period of two months had a positive effect on improving cervical extension in prone posture and improving cervical alignment in supine posture. Physiotherapy plays an important role in the prevention and maintenance of functional aspects, improving the patient's health condition, from increasing functionality and reducing disabilities.