G.P.8: Dramatic improvement after injection augmentation in oculopharyngodistal myopathy

Abstract

Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset, slowly progressive hereditary vacuolar myopathy in which the weakness and atrophy affect oculofacial, pharyngeal and distal skeletal muscles. The underlying genetic defect is yet unknown. Swallowing difficulties and hoarseness due to oropharyngeal involvement are two of the most prominent features of the condition affecting the quality of life and survival of the patients. Swallowing difficulty due to cord paresis and atrophy causes aspiration, compromises respiration and cause premature death. Vocal fold injection augmentation with different types of materials is a method used to treat vocal cord paralysis, paresis, atrophy and scars. It is a safe, repeatable, practical and effective procedure and can be performed in awake patients or under general anesthesia. Here, we report the dramatic outcome after vocal cord injection augmentation in a 43 years old female patient with OPDM, evidenced by improvement in ENT examination, videolaryngostroboscopic evaluation, Voice Handicap Index (Validated in Turkish), MDVP Analysis, M.D. Anderson Dysphagia Inventory, FEES (Fiberoptic Endoscopic Evaluation of Swallowing). We examined the patient, and performed all the tests during preoperative and postoperative 1st week, 1st month and 3rd month visits. No complications occurred during or after the procedure. The method was very successful in that aspirations stopped immediately after the injection, the voice became less hoarse and speech was more understandable. Augmentation was more effective for aspiration than for voice quality. Oculopharyngodistal myopathy is a non-curable genetic disease which threatens life due to respiratory insufficiency even in ambulatory patients. Application of vocal cord injection augmentation can be a promising symptomatic therapy option to decrease or stop aspiration in patients with OPDM. A larger study with more patients and longer follow-up is ongoing.