We herein report the case of a 69-year-old woman with Charcot-Marie-Tooth Disease type 2J (CMT2J) who presented with Adie's pupil, deafness, and urinary disturbance in addition to motor symptoms. On autonomic investigation, the coefficient of variation of the R-R intervals was decreased, and a urodynamic analysis showed a hypotonic bladder. A heart rate variability analysis revealed a decreased high frequency component and low frequency/high frequency ratio. Orthostatic hypotension was not present, and the sympathetic skin response and cardiac scintigraphy using (123)I-metaiodobenzylguanidine were normal. A gene analysis showed a known heterozygous mutation associated with CMT2J in myelin protein zero exon 3, resulting in the substitution of threonine to methionine at position 124. Our case suggests that mainly the parasympathetic autonomic function is disturbed in CMT2J.

Download full-text PDF

Source
http://dx.doi.org/10.2169/internalmedicine.54.4259DOI Listing

Publication Analysis

Top Keywords

charcot-marie-tooth disease
8
disease type
8
parasympathetic dominant
4
dominant autonomic
4
autonomic dysfunction
4
dysfunction charcot-marie-tooth
4
type mpz
4
mpz thr124met
4
thr124met mutation
4
mutation report
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!