[Spinal muscular atrophy in the ENT area].
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.
García de Hombre
Alina María
AM
Servicio de Otorrinolaringología, Hospital General de Fuerteventura, Puerto del Rosario, Las Palmas, España. aliadal@terra.es
Balderrama Caballero
David Hugo
DH
D003680:Deglutition Disorders / Q000150:complications* / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000473:pathology*