Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 3

Spinal muscular atrophy (SMA) is a hereditary, progressive, degenerative disorder of motor neurons in the spinal cord and lower brainstem, manifesting clinically as muscular weakness and atrophy [1]. It results from mutations in both copies of the survival of motor neuron 1 (SMN1) gene located on the long arm of the chromosome 5 (5q) and the consequent lack of fully functional SMN protein [1,2].

Source: Neuromuscular Disorders - February 2, 2021 Category: Neurology Authors: Stefan A. Djordjevic, Vedrana Milic-Rasic, Vesna Brankovic, Ana Kosac, Ivana Dejanovic-Djordjevic, Ljiljana Markovic-Denic, Goran Djuricic, Natasa Milcanovic, Smiljka Kovacevic, Hristina Petrovic, Milan Djukic, Vera Zdravkovic Source Type: research