Congenital LAMA2-related dystrophy (LAMA2-RD) is characterized by hypotonia, muscle weakness, and joint contractures present at birth or within the first year of life. Patients with LAMA2-RD often present ventilatory and bulbar dysfunctions, including dysarthria and dysphagia, which represent major causes of morbidity, mortality, and reduced quality of life. Despite their clinical impact, reliable data are limited.
Objective: evaluate dysphagia and dysarthria in patients with different LAMA2 mutations, as well as the use of ultrasound as a functional assessment tool and potential biomarker.
Methods: Cross-sectional study conducted at the Pediatric Neurology Clinic of HCFMUSP. Clinical assessments, standardized scales, and ultrasound evaluations were performed concurrently. Patients were evaluated using the Neuromuscular Disease Swallowing Status Scale (NdSSS), the Sydney Swallow Questionnaire (SSQ), the Swallowing Quality of Life (SWAL-QoL), and the Voice Handicap Index-10 scale. Muscle ultrasound was performed using a fixed gain, fixed depth, and fixed focus protocol (Logic E Pro, General Electric) with a 4–12 MHz transducer. With the patient in a supine position, the tongue and neck were evaluated. Ultrasound images were graded according to the modified Heckmatt scale.
Results: 26 patients with genetically confirmed LAMA2-RD, aged 1–27 years (mean: 7.9 years), were evaluated. Nine patients (34%) had a gastrostomy, including two who were exclusively gastrostomy-fed. More than half of the cohort (54%) had a weight at or below the 5th percentile, and 38% had experienced at least one episode of hypoglycemia.
On the SWAL-QoL, patients frequently or always reported difficulties swallowing solids (41%) and weight problems due to swallowing difficulties (41%). 35% reported frequent or constant worry about choking, 29% avoided certain foods due to fear of choking, and 24% felt emotionally overwhelmed. On the SSQ scale, 88% of patients reported the need to modify food texture, while 41% avoided certain foods and experienced difficulty swallowing pills or tablets.
35% of patients reported having communication challenges in noisy environments.
On ultrasound evaluation, structural abnormalities were observed in all patients. The geniohyoid muscle was markedly altered in 100% of cases, the genioglossus in 80%, and the digastric muscle in 53%.
Conclusion: LAMA2-RD is a condition that causes dysphagia and voice impairment, and US may serve as a biomarker