NEB gene-related nemaline myopathy: description of a cohort of 33 patients

A cross-sectional study of 33 North American and Brazilian patients with NEB gene-related nemaline myopathy, aged two to 59 years, was published in January 2023.

  • The onset of the disease was congenital in the vast majority of cases (94%), infantile in two cases.
  • All patients had an ogival palate.
  • Fourteen (46%) had scoliosis, which was accompanied by severe thoracic deformity in two of them; five (16%) had a stiff spine and two (6%) had finger retractions.
  • For the first time, moderate to marked atrophy of the tongue with three longitudinal grooves was found in 12 of the 23 patients in whom this sign was sought; this atrophy correlated with the presence of dysphagia;
  • 18 participants were able to walk unaided, including two who were able to climb stairs;
  • 32% required a gastrostomy;
  • 55% used ventilatory support, which was started at a mean age of nine ± six years, or in the first few days of life for six of them; five (16%) needed permanent ventilation.

Comparison of the different age groups shows that scoliosis and respiratory impairment are more common in adults, while swallowing and motor function are similar in the different age groups.


Clinical Manifestation of Nebulin-Associated Nemaline Myopathy. Moreno CAM, Artilheiro MC, Fonseca ATQSM et al. Neurol Genet. 2023 Jan 25;9(1):e200056.