Sociodemographic and clinical characteristics and access to health care in patients with spinal muscular atrophy in Argentina.

The FAME registry gathers the majority of patients with SMA in Argentina. From it, the clinical, sociodemographic and access to treatment characteristics were analyzed in 322 patients (range 8 months-61 years) included from 2008 to 2021. Important data were obtained for the planning of medical care of these patients such as: similar distribution of patient care in public and private hospitals, time gap between onset of symptoms and diagnoses, low level of completion of copy count, estimate of 16 new diagnoses per year between 2014 and 2018, and 68% of patient in specific pharmacological treatment.

Muscle MRI in pediatrics: clinical, pathological and genetic correlation.

Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments.