La voz en la atrofia muscular espinal. Una revisión no sistemática

Abstract

Spinal muscular atrophy is a recessive autosomal neuromuscular disease that causes degeneration of alpha motor neurons in the spinal cord and dysfunction of the neuromuscular junction, which causes a progressive muscular weakness and hypotonia affecting the limbs, axial musculature, and respiratory musculature. It can also concur with bulbar dysfunction, which affects the glossopharyngeal, vagus, accessory and hypoglossal nerves. In such cases, it can cause dysphagia, dysarthria, flaccid paralysis, atrophy and fasciculation of the muscles innervated by said cranial nerves. Regarding vocal function, there are few works that describe it thoroughly. The goal of this work is to put forward a state of the art about what is known about voice in SMA. A non-systematic review of works mentioning voice in SMA has been carried out against the databases of PubMed, ScienceDirect and Google Scholar. The features of voice in SMA found in the articles are: vocal weakness, low intensity, velar and pharyngeal hypotonia, nasality, wet voice, and bilateral cordal palsy. It is necessary to carry over a more detailed assessment of vocal conditions in SMA patients in order to complete current knowledge about the natural history of the disease, and in order to objectify the progress of said patients in clinical trials.