Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity

Portaro, Simona; Naro, Antonino; Chillura, Antonino; Billeri, Luana; Bramanti, Alessia; Bramantı, Placido; Rodolico, Carmelo; Calabrò, Rocco Salvatore

doi:10.1371/journal.pone.0178470

Cited by 13 publications

(4 citation statements)

References 40 publications

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“…A recent electrophysiological study showed a delay in the central motor conduction time in patients with DM1 25 , supporting our findings of abnormalities in the CST in patients with DM1. Clinically, DM1 is characterized by hand myotonia, which is a dysfunction of hand muscle relaxation.…”

Section: Discussionsupporting

confidence: 92%

Diffusion tensor imaging and voxel-based morphometry reveal corticospinal tract involvement in the motor dysfunction of adult-onset myotonic dystrophy type 1

Park

Song

Jang

et al. 2018

Sci Rep

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Magnetic resonance imaging (MRI) studies have demonstrated that patients with myotonic dystrophy type 1 (DM1) exhibit gray and white matter abnormalities that are correlated with various genetic and neuropsychological measures. However, few MRI studies have focused on the correlations between brain abnormalities and overall motor function including gait performance. Here, we investigated the correlations between brain abnormalities, as assessed with MRI including diffusion tensor imaging (DTI), and motor performance, as assessed with the Medical Research Council sum score (MRCSS), 6-minute walk test (6MWT), and hand grip power, in patients with DM1. Eighteen patients with DM1 and twenty healthy controls participated in this study. The MRCSS and 6MWT reflect patients’ general motor performance, particularly gait, while hand grip reflects the presence of myotonia. We found significant relationships between DTI parameters in the corticospinal tract (CST) and genetic factors and motor performance in patients with DM1. These findings suggest that CST involvement reflecting deterioration of the motor tracts may play a significant role in clinical myotonia. Further, a direct relationship between the cortical gray matter volume and DTI measures in the CST suggests that white matter abnormalities in the CST are strongly associated with volume reductions in the sensorimotor cortex of patients with DM1.

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Section: Discussionsupporting

confidence: 92%

Diffusion tensor imaging and voxel-based morphometry reveal corticospinal tract involvement in the motor dysfunction of adult-onset myotonic dystrophy type 1

Park

Song

Jang

et al. 2018

Sci Rep

View full text Add to dashboard Cite

show abstract

“…We do not yet know how manual forces are encoded in the responses of neurons in the motor or somatosensory cortex [32] . Previous studies suggested a relationship between myotonia and abnormalities in the white matter and descending motor tracts in DM1 [33][34][35][36] , thus it is possible that delayed response to the relax cue may involve abnormal sensorimotor integration. In this regard hand myometry synchronized with measurement of cortical activity (e.g., via EEG) and muscle activity (EMG) is needed.…”

Section: Article In Pressmentioning

confidence: 99%

Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy

Bulea

Gúth

Sarkar

et al. 2022

Neuromuscular Disorders

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“…A previous 3- T MRI (T 1 /T 2 /diffusion-weighted) study found a correlation between brain hypoechogenicity of the raphe nucleus with fatigue in DM1 and an inverse correlation between fatigue and the extent of brain white matter hyperintensities ( 51 , 52 ). In neurophysiological studies, both motor cortex excitability, valued by means of transcranial magnetic stimulation measuring intracortical facilitation and inhibition of motor evoked potentials, and central motor conduction time, are also affected in patients with DM1 ( 53 , 54 ).…”

Section: Clinical Features Of Cns Involvementmentioning

confidence: 99%

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

et al. 2020

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Increasing evidences indicate that in Myotonic Dystrophy type 1 (DM1 or Steinert disease), an autosomal dominant multisystem disorder caused by a (CTG)n expansion in DMPK gene on chromosome 19q13. 3, is the most common form of inherited muscular dystrophy in adult patients with a global prevalence of 1/8000, and involvement of the central nervous system can be included within the core clinical manifestations of the disease. Variable in its severity and progression rate over time, likely due to the underlying causative molecular mechanisms; this component of the clinical picture presents with high heterogeneity involving cognitive and behavioral alterations, but also sensory-motor neural integration, and in any case, significantly contributing to the disease burden projected to either specific functional neuropsychological domains or quality of life as a whole. Principle manifestations include alterations of the frontal lobe function, which is more prominent in patients with an early onset, such as in congenital and childhood onset forms, here associated with severe intellectual disabilities, speech and language delay and reduced IQ-values, while in adult onset DM1 cognitive and neuropsychological findings are usually not so severe. Different methods to assess central nervous system involvement in DM1 have then recently been developed, these ranging from more classical psychometric and cognitive functional instruments to sophisticated psycophysic, neurophysiologic and especially computerized neuroimaging techniques, in order to better characterize this disease component, at the same time underlining the opportunity to consider it a suitable marker on which measuring putative effectiveness of therapeutic interventions. This is the reason why, as outlined in the conclusive section of this review, the Authors are lead to wonder, perhaps in a provocative and even paradoxical way to arise the question, whether or not the myologist, by now the popular figure in charge to care of a patient with the DM1, needs to remain himself a neurologist to better appreciate, evaluate and speculate on this important aspect of Steinert disease.

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Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity

Cited by 13 publications

References 40 publications

Diffusion tensor imaging and voxel-based morphometry reveal corticospinal tract involvement in the motor dysfunction of adult-onset myotonic dystrophy type 1

Diffusion tensor imaging and voxel-based morphometry reveal corticospinal tract involvement in the motor dysfunction of adult-onset myotonic dystrophy type 1

Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

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