Challenges and strategies in the diagnosis and treatment of congenital multiple arthrogryposis

ultrasound, clinical and multidisciplinary approaches

Abstract

Arthrogryposis multiplex congenital (AMC) is a rare condition characterized by fixed joint contractures present at birth and may present a variety of clinical manifestations. Early diagnosis and multidisciplinary intervention are crucial to improving patients' quality of life. This Case Report is about a pregnant woman with a fetus with AMC, highlighting the clinical findings, diagnoses and treatments adopted. In the first ultrasound, the patient presented with increased nuchal translucency, complicating with a combination of fetal akinesia, abnormal position of the limbs, intrauterine growth retardation and polyhydramnios, in subsequent examinations. After birth, they presented a series of complications, including oropharyngeal dysfunctions, respiratory and neurological problems, as well as joint deformities. Multidisciplinary treatment was essential to minimize sequelae and promote the patients' motor and cognitive development. This discussion emphasizes the importance of early diagnosis, a multidisciplinary approach and comprehensive monitoring of patients with AMC. The various clinical manifestations of the condition, the complementary exams used in the differential diagnosis and the available therapeutic options are explored, including physiotherapy, use of orthoses and corrective surgeries. Therefore, it is noted that AMC is a complex condition that requires an interdisciplinary approach throughout the patient's life. Early diagnosis and appropriate treatment can significantly improve the quality of life and autonomy of affected individuals.