Congenital muscular dystrophies: what is new?

The congenital muscular dystrophies (CMDs) are inherited disorders primarily affecting the skeletal muscle and defined by hypotonia and weakness occurring before the achievement of independent ambulation, delay or arrest in the attainment of gross motor milestones, and dystrophic muscle pathology. Allelic mutations in several genes can cause onset either before or after the acquisition of ambulation, providing a pragmatic boundary between CMDs and limb girdle muscular dystrophies (LGMD) (Table 1).

Source: Neuromuscular Disorders - July 27, 2021 Category: Neurology Authors: Alberto A. Zambon, Francesco Muntoni Source Type: research