Abstract Details

Title Clinical Characteristics of Myotonic Dystrophy with Associated Parkinsonism: An 11 Patients Case Series

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 11-016

Background

Rare case reports exist of patients with MD who develop concomitant parkinsonism, but limited epidemiologic and clinical data is available about these patients.

Objective To report a cases series describing the clinical characteristics of patient with Myotonic dystrophy (MD) and associated parkinsonism.

Design/Methods

A PUBMED search was performed with the terms “Myotonic dystrophy parkinsonism”. Of 77 results, only nine represented case reports of MD and parkinsonism. Clinical characteristics of the cases were collected. One of the papers described two cases. One case from our institution, that is not yet published, was added to the analysis. A total of 11 patients were included in the analysis.

Results From the 11 patients included, 9 had genetic confirmation of MD diagnosis. Among the 9 patients where a genetic test was available, 66% had Myotonic dystrophy type 1 and 33 % type 2. Patients were predominantly female (72%). The mean age of initial MD symptoms was 49, and of parkinsonism 50 years (range 25-67). 45 % of patients developed MD symptoms first, while 27 % experienced parkinsonism first and 27 % developed both types of symptoms concomitantly. With regards to parkinsonism, 60 % had an asymmetric presentation. The response to levodopa was absent in 27 %, minimal in 36 % and good in 36 %. 6 patients had Dopamine transporter image available, with 5 showing abnormalities in the basal ganglia and 1 in the superior temporal gyrus, parietal operculum, and posterior thalamus.

Conclusions

Patients with MD and parkinsonism seem to be predominantly female and more commonly have MD type 1. Although the majority of dopamine transporter scan was abnormal, there is more variability in levodopa response than expected compared to idiopathic Parkinson’s disease. Our findings will inform awareness and screening for parkinsonism in the MD population, and guide clinicians on management and prognosis of this intersection of conditions.

Authors/Disclosures
Eduardo Inacio Nascimento Andrade, MD (Umass Medical School) PRESENTER	Dr. Nascimento Andrade has nothing to disclose.
Kara M. Smith, MD, FAAN (University of Massachusetts Medical School)	Dr. Smith has received personal compensation in the range of $0-$499 for serving as a Consultant for PureTech. Dr. Smith has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amneal Pharmaceuticals. Dr. Smith has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Massachusetts Board of Medicine. The institution of Dr. Smith has received research support from NIH. Dr. Smith has received personal compensation in the range of $0-$499 for serving as a single time expert panel discussion contributor with Acadia.