1 - Unidade de Patologia da Coluna Vertebral - Hospital CUF Descobertas
2 - Serviço de Ortopedia Pediatríca, Hospital Dona Estefância – Centro Hospitalar Universitário de Lisboa Central, Lisboa
- Apresentação, Reunião Internacional online: Reunião “Go further SMA Virtual Series”, 29-6-2021
Resumo: Spinal muscular atrophy (SMA) is a common, fatal autosomal recessive condition, occurring with a reported incidence between 1/6,000 to 1/10,000 in a European population. It is a progressive neuromuscular disorder. Common orthopaedic manifestations include: spinal deformity, hip subluxation/dislocation, joint contractures, and insufficiency fractures. The new aggressive multidisciplinary medical management, increase overall survival. With increased survival, the orthopaedic surgeon plays a larger role in the care of patients with SMA. Joint contractures and insufficiency fractures in SMA are common and have related pathophysiologic mechanisms. Anterior horn cell pathology and hypotonia result in stiff muscles and joint contractures; 89% of patients with SMA have knee contractures, and 50% of patients with SMA have ankle contractures. Bone mineral density in children with SMA was reported to be the lowest among neuromuscular disorders. The absence of muscular activity in SMA, as well as the inability to bear weight, results in abnormally weak bones. Management of scoliosis: Derotational casting in early onset scoliosis (EOS) SMA patients is not typically recommended due to associated pulmonary morbidity. Bracing is also challenging in this patient population due to weakness of respiratory muscles and associated restrictive lung disease. Semi-rigid bracing in patients with a curve greater than 20° who can tolerate being upright either in a wheelchair or stander. Progressive deformities with Cobb angles greater than 50-60° is an indication for surgery for patients in all age groups. Although strict guidelines for the timing of definitive fusion do not exist in the literature, as a rule of thumb, children younger than eight years of age undergo growth-friendly techniques. Children older than ten years of age undergo definitive posterior spine fusion. Type 1 SMA survivals would undergo growth-friendly surgery. Type 2 SMA would undergo either growth-friendly surgery or posterior. definitive fusion those with definitive fusion performed, need “bonefree window” to access intraspinal canal and dural sac.
Palavras Chave: atrofia muscular espinhal, patologia ortopedica