Related Experiment Video
Updated: Feb 25, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Brain imaging in myotonic dystrophy type 1: A systematic review
Kees Okkersen1, Darren G Monckton2, Nhu Le2
1From the Department of Neurology (K.O., N.L., A.M.T., J.R., B.G.M.v.E.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; and Institute of Molecular, Cell and Systems Biology (D.G.M.), College of Medical, Veterinary and Life Sciences, University of Glasgow, UK. kees.okkersen@radboudumc.nl.
Myotonic dystrophy type 1 (DM1) brain imaging reveals widespread gray and white matter abnormalities, including atrophy and white matter hyperintensities. Functional studies show altered brain activity and connectivity in DM1 patients.
Area of Science:
- Neuroimaging
- Neurology
- Genetics
Background:
- Myotonic dystrophy type 1 (DM1) is a multisystem disorder with poorly understood neurological manifestations.
- Brain imaging studies offer insights into the structural and functional brain changes associated with DM1.
Purpose of the Study:
- To systematically review and synthesize findings from brain imaging studies in patients with DM1.
- To identify common patterns of brain abnormalities and their prevalence.
Main Methods:
- A comprehensive search of Embase and MEDLINE databases was conducted for studies utilizing various neuroimaging techniques (MRI, MRS, fMRI, CT, PET, SPECT).
- Data extraction included clinical characteristics, imaging outcomes, and clinical-genetic correlations from 81 identified studies.
- Pooled prevalence of imaging abnormalities was calculated where feasible.
Main Results:
- DM1 brains exhibit widespread gray matter atrophy and white matter abnormalities across all lobes, basal ganglia, and cerebellum.
- Pooled prevalence of white matter hyperintensities is 70% in DM1 patients versus 6% in controls.
- Diffusion tensor imaging (DTI) reveals widespread white matter tract alterations, and functional studies indicate reduced cerebral perfusion and abnormal connectivity.
Conclusions:
- DM1 is characterized by diffuse brain involvement affecting both gray and white matter, supported by functional imaging and spectroscopy.
- Longitudinal studies are crucial for understanding the spatiotemporal progression of these imaging changes in DM1.
