Cross-sectional survey study of the natural history of LAMA2-related dystrophy

• Published in: Clinical neurology and neurosurgery 2024-10, Vol.245, p.108467, Article 108467
• Main Authors: Camelo, Clara Gontijo, Artilheiro, Mariana Cunha, Fernandes, Tatiana Ribeiro, Moreno, Cristiane de Araújo Martins, Fonseca, Alulin Tácio Quadros Santos Monteiro, Reed, Umbertina Conti, Zanoteli, Edmar
• Format: Article
• Language: English
• Subjects: Age; Biopsy; Clinical trials; Congenital diseases; Disease; Dystrophy; Elbow; Forced vital capacity; Gait; Goniometry; Knee; LAMA2-RD; Longitudinal studies; Lung diseases; Motor function; Muscular dystrophy; Natural history; Neuromuscular diseases; Ostomy; Patients; Phenotypes; Pneumonia; Range of motion; Spirometry; Statistical analysis; Ventilation
• ISSN: 0303-8467; 1872-6968; 1872-6968
• DOI: 10.1016/j.clineuro.2024.108467

LAMA2-related dystrophies (LAMA2-RD) are a rare group of neuromuscular disorders with a broad spectrum of phenotype severity, ranging from mild to severe. We performed a cross-sectional study of LAMA2-RD through motor function and pulmonary tests to establish the disease's natural history. Forty-four individuals with LAMA2-RD were included and evaluated once through functional outcome measures including Motor Function Measure 32 (MFM32), Revised Upper Limb Module (RULM), goniometry, and Forced Vital Capacity (FVC). Fixed Effect Regression Model (ERM) and Kaplan-Meier curve were used for calculating the rate of the disease progression Patients were between 2 and 25 years old (mean 11.4), the most frequent phenotype presentation was non-ambulant (N=36, 81.8%) while eight patients (18,2 %) were ambulant. The non-ambulant group presented a more severe progression of the disease. Non-ambulant patients had a 1.85 % decrease in FVC/year against 1.32 %/year among ambulant patients. In the non-ambulant group, there was a 4.2 % drop/year in the MFM32-D2 domain (p