Author(s): Moreira Sousa, Rui ; Bernardes, Catarina ; Pires, Gonçalo ; Vieira, Carla ; Cunha, Inês
Date: 2024
Origin: SINAPSE
Subject(s): Infant; Laminin/genetics; Muscular Dystrophies/ congenital; Muscular Dystrophies/ rehabilitation; Distrofias Musculares/ congénita; Distrofias Musculares/ reabilitação; Lactente; Lamina/genética
Merosinopathy is a subtype of muscular dystrophy with recessive autosomal transmission, resulting from an α2-chain-laminin/merosin deficiency. It affects around 1-9/ 1 000 000 individuals. Classically, it is subdivided in two phenotypic categories: one that is more common and severe, known as congenital muscular dystrophy type 1A, and a lesser common form of mild presentation. Congenital muscular dystrophy type 1A presents early with severe neonatal hypotonia and inability to stand and walk. Dysphagia, respiratory failure and scoliosis may also occur. There is no curative therapy, thereby the control and prevention of complications are the available approach. The authors present a case report of a congenital muscular dystrophy type 1A patient with a compound heterozygosity mutation presenting a global psychomotor development delay under multidisciplinary rehabilitation treatment.
