Dados do Trabalho

Título

Clinical Manifestation of Nebulin-Associated Nemaline Myopathy

Resumo

Background and Objectives Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least twelve genes while pathogenic variants in NEB gene are the most common genetical cause. The clinical spectrum of NM caused by NEB pathogenic variants (NM-NEB) is very broad ranging from mild to severe presentations manifesting with generalized weakness, respiratory and bulbar involvement. Currently there is not enough data regarding the progression disease. Here we present a mutational and phenotypic spectrum of 33 NM patients caused by NEB variants (NM-NEB) classified according to age groups and the use of ventilatory support. Methods: Clinical and genetic data from NM-NEB patients followed in one specialized center were collected through regular consultations. Thirty-three patients were evaluated regarding motor, bulbar and respiratory function.
Results: 32% of the NM-NEB patients used a G-tube, 65% were able to walk unsupported and 45% did not used ventilatory support (VS). Scoliosis and dysphagia were more common among patients that used VS. Comparing the patients grouped by age we found that proportionally, older patients had more scoliosis and respiratory dysfunction than younger groups suggesting the progression of the disease in these domains. In addition to that, we showed that ventilatory support use was associated with scoliosis and dysphagia.
Discussion: 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. Grouping patients by age suggested disease stability in motor and swallow function but a progression in respiratory dysfunction and skeletal deformities. All these observations are relevant in the management care of NM-patients.

Palavras Chave

Nemaline Myopahty, Nebulin, rods