TY - CHAP M1 - Book, Section TI - Mohr-Tranebjaerg Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is a novel rare genetic type of mitochondrial disease. It is characterized by deafness and dystonia. Progressive deafness becomes evident at age 3 to 5 years. Severe dysarthria and occasional bizarre posturing of head and neck are possible. Clinically, the features include the presence of dystonia, spasticity, dysphagia, and optic atrophy that appear in adult life. Patients are prone to seizures and lactate acidosis. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164079055 ER -