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Hypoglycemia in Patients With LAMA2-CMD by Clara Gontijo Camelo; Cristiane de Araújo Martins Moreno; Mariana Cunha Artilheiro; André Macedo Serafim Silva; Alulin Tácio Quadros Monteiro Fonseca; Rodrigo Mendonça de Holanda; Umbertina Conti Reed; Edmar Zanoteli is a Medicine article available to read on EtoBox.
What is Hypoglycemia in Patients With LAMA2-CMD about?
Background: Hypoglycemia has been reported in patients with LAMA2-CMD, but the frequency, risk factors, and correlation to genotype/phenotype have not been systematically assessed to date. Methods: A retrospective cohort study was performed on 48 patients with LAMA2-CMD. Patients were divided into two groups: a hypoglycemic group, with at least one episode of hypoglycemia, and a nonhypoglycemic group. The groups were compared according to gait function, epilepsy, intellectual disability, constipation, gastroesophageal reflux, gastrostomy, weight percentile, scoliosis, the use of a ventilator device, the use of a feeding device, neuromuscular disease swallowing status scale, and type of mutation. Results: Fifteen patients (31.2%) presented with at least one episode of symptomatic hypoglycemia and eight (16.6% of the cohort) had two or more episodes. All patients who had hypoglycemia were in the nonambulant group. We observed a correlation between gait, the use of ventilator and feeding devices, and swallow function with hypoglycemia. Patients with extremely low weight were five times more likely to have recurrent episodes of hypoglycemia. The presence of at least one missense varian
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- Author
- Clara Gontijo Camelo; Cristiane de Araújo Martins Moreno; Mariana Cunha Artilheiro; André Macedo Serafim Silva; Alulin Tácio Quadros Monteiro Fonseca; Rodrigo Mendonça de Holanda; Umbertina Conti Reed; Edmar Zanoteli
- Publisher
- Elsevier BV
- Published
- 2023
- Language
- EN
- Field
- Medicine (Health Sciences)