RESUMO
INTRODUCTION: Electrical impedance myography (EIM) is a noninvasive electrophysiological technique that characterizes muscle properties through bioimpedance. We compared EIM measurements to function, strength, and disease severity in a population with congenital muscular dystrophy (CMD). METHODS: Forty-one patients with CMD, either collagen 6 related disorders (COL6-RD; n = 21) or laminin α-2-related disorders (LAMA2-RD; n = 20), and 21 healthy pediatric controls underwent 2 yearly EIM exams. In the CMD cohorts, EIM was compared with functional and strength measurements. RESULTS: Both CMD cohorts exhibited change over time and had correlation with disease severity. The 50-kHZ phase correlated well with function and strength in the COL6-RD cohort but not in the LAMA2-RD cohort. DISCUSSION: EIM is a potentially useful measure in clinical studies with CMD because of its sensitivity to change over a 1-year period and correlation with disease severity. For COL6-RD, there were also functional and strength correlations. Muscle Nerve 57: 54-60, 2018.
Assuntos
Colágeno Tipo VI/genética , Impedância Elétrica , Laminina/genética , Distrofias Musculares/congênito , Distrofias Musculares/genética , Miografia/métodos , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Masculino , Força Muscular , Exame Neurológico/métodos , Corrida , Sensibilidade e Especificidade , Índice de Gravidade de DoençaRESUMO
Investigators from the NIH performed a longitudinal, prospective, natural history study looking at patients with COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs), the two most common congenital muscular dystrophies (CMDs).