RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164079055
T1 Mohr-Tranebjaerg Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164079055
RD 2024/04/20
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.