Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.
Cristiane de Araújo Martins MorenoMariana Cunha ArtilheiroAlulin Tacio Quadros Santos Monteiro FonsecaClara Gontijo CameloGisele Chagas de MedeirosFernanda Chiarion SassiClaudia Regina Furquim de AndradeSandra DonkervoortAndre Macedo Serafim SilvaLuiz Dalfior-JuniorOsorio Lopes Abath-NetoUmbertina Conti ReedCarsten G BonnemannEdmar ZanoteliPublished in: Neurology. Genetics (2023)
NM-NEB is a very debilitating disease. There is an association between scoliosis and respiratory dysfunction while patients using VS have more often scoliosis than the no-VS group. Triple furrow tongue atrophy is a novel and frequent finding, which is directly associated with dysphagia. Grouping patients by age suggested disease stability in motor and swallow function, but a progression in respiratory dysfunction and skeletal deformities. All observations are relevant in the management care of patients with NM.