[Spinal muscular atrophy in the ENT area]. / Atrofia muscular espinal en el área otorrinolaringológica.

To review the clinical and pathological characteristics of spinal muscular atrophy (SMA) in general and in particular regarding the ENT. SMA is relatively rare in the head and neck. Dysphagia is the main symptom. Retrospective review of 9 patients from the same family comprising the original patient, brothers, sister, and cousins with a diagnosis of SMA. Dysphagia and muscular hypotonia in upper members were the main presenting symptoms. The ENT exploration, oesophageal transit, electromyography, and genetic tests were necessary for the diagnosis. In our experience, the treatment of dysphagia in neurological diseases is poor as we have confirmed through a literature review. Thanks to rehabilitation units for swallowing and voice disorders, ENT specialists are involved in the treatment and training of these patients for a better quality of life.

Atrofia muscular espinal en el área otorrinolaringológica / Spinal muscular atrophy in the ENT area

Se ha querido revisar las características de la atrofia muscular espinal (AME) en general y en especial en lo relacionado con la otorrinolaringología. La AME es una entidad poco frecuente en el área de cabeza y cuello. La disfagia es el síntoma principal. Presentamos el estudio retrospectivo de una familia compuesta por 9 personas entre el afecto, los hermanos y los primos, diagnosticados de AME. Los principales síntomas fueron la disfagia y la debilidad muscular en los brazos. Para el diagnóstico se realizó exploración completa de cabeza y cuello, tránsito esofágico, electromiografía y estudio genético. Nuestra experiencia en el manejo de la disfagia en los trastornos neurológicos es poca, como se constata al realizar una revisión bibliográfica de esta patología. Gracias a las unidades de rehabilitación de los trastornos de la deglución y de la voz, los otorrinolaringólogos nos vemos implicados en cómo tratar y entrenar a estos enfermos para que tengan una mejor calidad de vida

To review the clinical and pathological characteristics of spinal muscular atrophy (SMA) in general and in particular regarding the ENT. SMA is relatively rare in the head and neck. Dysphagia is the main symptom. Retrospective review of 9 patients from the same family comprising the original patient, brothers, sister, and cousins with a diagnosis of SMA. Dysphagia and muscular hypotonia in upper members were the main presenting symptoms. The ENT exploration, oesophageal transit, electromyography, and genetic tests were necessary for the diagnosics. In our experience, the treatment of dysphagia in neurological diseases is poor as we have confirmed through a literature review. Thanks to rehabilitation units for swallowing and voice disorders, ENT specialists are involved in the treatment and training of these patients for a better quality of life