Dataset Information

Myotonic dystrophy type 1 alters muscle twitch properties, spinal reflexes, and perturbation-induced trans-cortical reflexes.

ABSTRACT:

Background

Neurophysiologic biomarkers are needed for clinical trials of therapies for myotonic dystrophy (DM1). We characterized muscle properties, spinal reflexes (H-reflexes), and trans-cortical long-latency reflexes (LLRs) in a cohort with mild/moderate DM1.

Methods

Twenty-four people with DM1 and 25 matched controls underwent assessment of tibial nerve H-reflexes and soleus muscle twitch properties. Quadriceps LLRs were elicited by delivering an unexpected perturbation during a single-limb squat (SLS) visuomotor tracking task.

Results

DM1 was associated with decreased H-reflex depression. The efficacy of doublet stimulation was enhanced, yielding an elevated double-single twitch ratio. DM1 participants demonstrated greater error during the SLS task. DM1 individuals with the least-robust LLR responses showed the greatest loss of spinal H-reflex depression.

Conclusions

DM1 is associated with abnormalities of muscle twitch properties. Co-occurring alterations of spinal and trans-cortical reflex properties underscore the central nervous system manifestations of this disorder and may assist in gauging efficacy during clinical trials.

SUBMITTER: Shields RK

PROVIDER: S-EPMC7711310 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Publications

Myotonic dystrophy type 1 alters muscle twitch properties, spinal reflexes, and perturbation-induced trans-cortical reflexes.

Shields Richard K RK Lee Jinhyun J Buelow Aaron A Petrie Michael M Dudley-Javoroski Shauna S Cross Stephen S Gutmann Laurie L Nopoulos Peggy C PC

Muscle & nerve 20191206 2

<h4>Background</h4>Neurophysiologic biomarkers are needed for clinical trials of therapies for myotonic dystrophy (DM1). We characterized muscle properties, spinal reflexes (H-reflexes), and trans-cortical long-latency reflexes (LLRs) in a cohort with mild/moderate DM1.<h4>Methods</h4>Twenty-four people with DM1 and 25 matched controls underwent assessment of tibial nerve H-reflexes and soleus muscle twitch properties. Quadriceps LLRs were elicited by delivering an unexpected perturbation during ...[more]

PMID: 31773755

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Project description:Myotonic dystrophy type 1 (DM1) and 2 (DM2) are autosomal dominant degenerative neuromuscular disorders characterized by progressive skeletal muscle weakness, atrophy, and myotonia with progeroid features. Although both DM1 and DM2 are characterized by skeletal muscle dysfunction and also share other clinical features, the diseases differ in the muscle groups that are affected. In DM1, distal muscles are mainly affected, whereas in DM2 problems are mostly found in proximal muscles. In addition, manifestation in DM1 is generally more severe, with possible congenital or childhood-onset of disease and prominent CNS involvement. DM1 and DM2 are caused by expansion of (CTG•CAG)n and (CCTG•CAGG)n repeats in the 3' non-coding region of DMPK and in intron 1 of CNBP, respectively, and in overlapping antisense genes. This critical review will focus on the pleiotropic problems that occur during development, growth, regeneration, and aging of skeletal muscle in patients who inherited these expansions. The current best-accepted idea is that most muscle symptoms can be explained by pathomechanistic effects of repeat expansion on RNA-mediated pathways. However, aberrations in DNA replication and transcription of the DM loci or in protein translation and proteome homeostasis could also affect the control of proliferation and differentiation of muscle progenitor cells or the maintenance and physiological integrity of muscle fibers during a patient's lifetime. Here, we will discuss these molecular and cellular processes and summarize current knowledge about the role of embryonic and adult muscle-resident stem cells in growth, homeostasis, regeneration, and premature aging of healthy and diseased muscle tissue. Of particular interest is that also progenitor cells from extramuscular sources, such as pericytes and mesoangioblasts, can participate in myogenic differentiation. We will examine the potential of all these types of cells in the application of regenerative medicine for muscular dystrophies and evaluate new possibilities for their use in future therapy of DM.

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Dataset Information

Myotonic dystrophy type 1 alters muscle twitch properties, spinal reflexes, and perturbation-induced trans-cortical reflexes.

Background

Methods

Results

Conclusions

Publications

Myotonic dystrophy type 1 alters muscle twitch properties, spinal reflexes, and perturbation-induced trans-cortical reflexes.

Similar Datasets

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