BANF1

Management

Currently, management options for Néstor-Guillermo Progeria Syndrome are purely symptomatic, as there is no available treatment that can halt or delay the progression of the syndrome. Therefore, care of patients should focus on a multidisciplinary approach aimed at alleviating symptoms, preventing complications, and improving the patient’s quality of life.


Key aspects of management and surveillance include close and regular monitoring of skeletal abnormalities, with particular attention to the progression of osteolysis and scoliosis, as severe spinal curvature and thorax deformity may compromise pulmonary function. Also, physical and occupational therapy should be provided to maintain joint mobility and muscle strength, together with pain management strategies, aiming at supporting activities of day living and autonomy. Finally, providing genetic counselling is essential for affected families to discuss reproductive options, and psychosocial support is crucial for both patients and their families to cope with the challenges of this condition.