In this section
@article{McAuley:2017:10.1136/bcr-2016-218484,
author = {McAuley, J and Taylor, R and Simonds, A and Chawda, S},
doi = {10.1136/bcr-2016-218484},
journal = {BMJ Case Rep},
title = {Respiratory difficulty with palatal, laryngeal and respiratory muscle tremor in adult-onset Alexander's disease.},
url = {http://dx.doi.org/10.1136/bcr-2016-218484},
volume = {2017},
year = {2017}
}
TY - JOUR
AB - Sleep apnoea and respiratory difficulties are reported in adult-onset Alexander's disease (AOAD), an autosomal-dominant leukodystrophy that presents mainly with progressive ataxia. We demonstrate for the first time that the respiratory symptoms can result from association of palatal tremor with a similar tremor of laryngeal and respiratory muscles that interrupts normal inspiration and expiration.A 60-year-old woman presented with progressive ataxia, palatal tremor and breathlessness. MRI revealed medullary atrophy, bilateral T2 hyperintensities in the dentate nuclei and hypertrophic olivary degeneration (HOD). AOAD was confirmed genetically with a positive glial fibrillary acidic protein (GFAP) mutation. Electrophysiological study revealed 1.5 Hz rhythmic laryngeal and respiratory muscle activity. Her respiratory symptoms were significantly improved at night with variable positive pressure ventilation.This case illustrates that palatal tremor in AOAD, and potentially in other conditions, may be associated with treatable breathlessness due to a similar tremor of respiratory muscles.
AU - McAuley,J
AU - Taylor,R
AU - Simonds,A
AU - Chawda,S
DO - 10.1136/bcr-2016-218484
PY - 2017///
TI - Respiratory difficulty with palatal, laryngeal and respiratory muscle tremor in adult-onset Alexander's disease.
T2 - BMJ Case Rep
UR - http://dx.doi.org/10.1136/bcr-2016-218484
UR - https://www.ncbi.nlm.nih.gov/pubmed/28438749
VL - 2017
ER -