DYSPHAGIA IN PATIENTS WITH INBORN ERROR OF METABOLISM DISEASES PATIENTS BORN WITH INBORN ERROR OF METABOLISM (IEM) DISEASE PRESENT WITH MULTIPLE SWALLOWING DIFFICULTIES, AND THE DISEASES ARE VERY VARIABLE
International Archives of Otorhinolaryngology
DYSPHAGIA IN PATIENTS WITH INBORN ERROR OF METABOLISM DISEASES PATIENTS BORN WITH INBORN ERROR OF METABOLISM (IEM) DISEASE PRESENT WITH MULTIPLE SWALLOWING DIFFICULTIES, AND THE DISEASES ARE VERY VARIABLE
Autor Correspondente: Loureiro GF | [email protected]
Resumos Cadastrados
Resumo Inglês:
AIM: To verify the mechanisms of dysphagia in patients in 3 IEM groups. CASE REPORT: We evaluated 3 patients with 3 different diseases by using the protocol of the stomatognathic system AMIOFE (Assessment Protocol Myofunctional with Scores; Felicio and Ferreira, 2008). The evaluation was performed visually and recorded for analysis of the patients, one from each group. Group 1 presented with defects in intermediary metabolism culminating in acute or chronic intoxication, Group 2 exhibited a deficiency in the production or use of energy, and Group 3 had errors in the synthesis or catabolism of complex molecules. The patient in Group 1 had organic aciduria, the patient in Group 2 had mitochondrial disease, and the patient in Group 3 had mucopolysaccharidosis I. The patient in Group 1 did not perform the movements required for structural assessment of the stomatognathic system and refused to swallow. The patient in Group 2 presented poor mobility of the stomatognathic organs and swallowing disorders. The patient in Group 3 showed changes in structural system, poor mobility, and swallowing disorders. CONCLUSION: Evaluation of the 3 patients revealed structural changes and/or poor mobility of the stomatognathic system and dysphagia. Each patient showed changes with differing levels of severity; the speech therapist needs to be aware of these changes to apply appropriate therapy.
