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Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

2023; Thieme Medical Publishers (Germany); Linguagem: Inglês

10.1055/s-0043-1774430

1678-4227

Clara Gontijo Camelo, Ana Lucila Moreira, Mariana Cunha Artilheiro, Pedro Henrique Marte de Arruda Sampaio, Tatiana Ribeiro Fernandes, Cristiane Araújo Martins Moreno, André Macedo Serafim Silva, Umbertina Conti Reed, Edmar Zanoteli,

Congenital heart defects research

Background: LAMA2-muscular dystrophy (LAMA2-MD) is an autosomal recessive disease, and the most common form of congenital muscular dystrophy (CMD). Most of the patients develop a form of disease characterized by inability to achieve walking capacity, multiple joint deformities, respiratory insufficiency, and some degree of dysphagia. However, there is a gravity spectrum, and some patients never achieve sitting position, while others can walk unassisted. There are still no adequate biomarkers to assess disease progression, and muscle ultrasound can be a useful tool, and also complement the assessment of respiratory and swallowing function.