Congenital myasthenic syndromes and myasthenia

We describe the case of a 13-year-old-girl presenting with a limb-girdle congenital myasthenic syndrome (LG-CMS) due to a new homozygous missense mutation in DPAGT1. The patient from Guadeloupe was born to consanguineous parents as they share a great-grandmother. She was able to stay sit at 7 months and walked aided at 16 months. She had speech delay with first words at the age of 27 months. At clinical examination at the age of 10, she presented with axial and shoulder girdle muscle weakness, and abduction of the arms was limited to 45.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: T. Gidaro, L. Vandenbrande, E. Malfatti, C. Labasse, P. Carlier, N. Romero, L. Servais, J. B öhm Source Type: research