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

Shields, Richard K.; Lee, Jinhyun; Buelow, Aaron; Petrie, Michael A.; Dudley-Javoroski, Shauna; Cross, Stephen; Gutmann, Laurie; Nopoulos, Peg

doi:10.1002/mus.26767

Cited by 4 publications

(3 citation statements)

References 53 publications

(71 reference statements)

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“…LLR in Myotonic Dystrophy Type 1 (DM1) (n = 1 Study): In a study of 24 patients with DM1, abnormalities in the muscle twitch properties such as reduced H-reflex depression with less robust LLR response was observed. 84…”

Section: Resultsmentioning

confidence: 99%

“…83 LLR in Myotonic Dystrophy Type 1 (DM1) (n = 1 Study): In a study of 24 patients with DM1, abnormalities in the muscle twitch properties such as reduced H-reflex depression with less robust LLR response was observed. 84 LLR in Stroke (n = 3 Studies) and Neurorehabilitation (n = 1 Study): Results of LLR assessment among long term stroke-survivors were contradictory. 85,86,87 A more recent study by Bank C et al showed that stroke survivors with intact LLR, have a better clinical recovery with respect to walking speed and power of ankle flexors compared to healthy controls.…”

Section: Llr In Other Movement Disordersmentioning

confidence: 99%

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Long Latency Reflexes in Clinical Neurology: A Systematic Review

Dhar

Kamble

Pal

2022

Can. J. Neurol. Sci.

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Background: Long latency reflexes (LLRs) are impaired in a wide array of clinical conditions. We aimed to illustrate the clinical applications and recent advances of LLR in various neurological disorders from a systematic review of published literature. Methods: We reviewed the literature using appropriately chosen MeSH terms on the database platforms of MEDLINE, Web of Sciences, and Google Scholar for all the articles from 1st January 1975 to 2nd February 2021 using the search terms “long loop reflex”, “long latency reflex” and “C-reflex”. The included articles were analyzed and reported using synthesis without meta-analysis (SWiM) guidelines. Results: Based on our selection criteria, 40 articles were selected for the systematic review. The various diseases included parkinsonian syndromes (11 studies, 217 patients), Huntington’s disease (10 studies, 209 patients), myoclonus of varied etiologies (13 studies, 127 patients) including progressive myoclonic epilepsy (5 studies, 63 patients) and multiple sclerosis (6 studies, 200 patients). Patients with parkinsonian syndromes showed large amplitude LLR II response. Enlarged LLR II was also found in myoclonus of various etiologies. LLR II response was delayed or absent in Huntington’s disease. Delayed LLR II response was present in multiple sclerosis. Among the other diseases, LLR response varied according to the location of cerebellar lesions while the results were equivocal in patients with essential tremor. Conclusions: Abnormal LLR is observed in many neurological disorders. However, larger systematic studies are required in many neurological disorders in order to establish its role in diagnosis and management.

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Section: Resultsmentioning

confidence: 99%

Section: Llr In Other Movement Disordersmentioning

confidence: 99%

Long Latency Reflexes in Clinical Neurology: A Systematic Review

Dhar

Kamble

Pal

2022

Can. J. Neurol. Sci.

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“…Utilizing novel physiology measures of lower leg muscle function (soleus), our group recently showed that DM1 patients exhibited co-occurring alteration of spinal and trans-cortical reflex properties, providing strong support for the role of CNS abnormalities in muscle dysfunction in DM1 19 . Other neuroimaging studies have supported the notion that muscle impairment is linked to regional decreases in fractional anisotropy 12 , 13 .…”

Section: Discussionmentioning

confidence: 96%

White matter microstructure relates to motor outcomes in myotonic dystrophy type 1 independently of disease duration and genetic burden

Koscik

Plas

Gutmann

et al. 2021

Sci Rep

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Deficits in white matter (WM) integrity and motor symptoms are among the most robust and reproducible features of myotonic dystrophy type 1 (DM1). In the present study, we investigate whether WM integrity, obtained from diffusion-weighted MRI, corresponds to quantifiable motor outcomes (e.g., fine motor skills and grip strength) and patient-reported, subjective motor deficits. Critically, we explore these relationships in the context of other potentially causative variables, including: disease duration, elapsed time since motor symptom onset; and genetic burden, the number of excessive CTG repeats causing DM1. We found that fractional anisotropy (a measure of WM integrity) throughout the cerebrum was the strongest predictor of grip strength independently of disease duration and genetic burden, while radial diffusivity predicted fine motor skill (peg board performance). Axial diffusivity did not predict motor outcomes. Our results are consistent with the notion that systemic degradation of WM in DM1 mediates the relationship between DM1 progression and genetic burden with motor outcomes of the disease. Our results suggest that tracking changes in WM integrity over time may be a valuable biomarker for tracking therapeutic interventions, such as future gene therapies, for DM1.

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Quantitative muscle MRI as a sensitive marker of early muscle pathology in myotonic dystrophy type 1

et al. 2021

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Background Quantitative muscle MRI as a sensitive marker of early muscle pathology and disease progression in adult‐onset myotonic dystrophy type 1. The utility of muscle MRI as a marker of muscle pathology and disease progression in adult‐onset myotonic dystrophy type 1 (DM1) was evaluated. Methods This prospective, longitudinal study included 67 observations from 36 DM1 patients (50% female), and 92 observations from 49 healthy adults (49% female). Lower‐leg 3T magnetic resonance imaging (MRI) scans were acquired. Volume and fat fraction (FF) were estimated using a three‐point Dixon method, and T2‐relaxometry was determined using a multi‐echo spin‐echo sequence. Muscles were segmented automatically. Mixed linear models were conducted to determine group differences across muscles and image modality, accounting for age, sex, and repeated observations. Differences in rate of change in volume, T2‐relaxometry, and FF were also determined with mixed linear regression that included a group by elapsed time interaction. Results Compared with healthy adults, DM1 patients exhibited reduced volume of the tibialis anterior, soleus, and gastrocnemius (GAS) (all, P < .05). T2‐relaxometry and FF were increased across all calf muscles in DM1 compared to controls. (all, P < .01). Signs of muscle pathology, including reduced volume, and increased T2‐relaxometry and FF were already noted in DM1 patients who did not exhibit clinical motor symptoms of DM1. As a group, DM1 patients exhibited a more rapid change than did controls in tibialis posterior volume (P = .05) and GAS T2‐relaxometry (P = .03) and FF (P = .06). Conclusions Muscle MRI renders sensitive, early markers of muscle pathology and disease progression in DM1. T2 relaxometry may be particularly sensitive to early muscle changes related to DM1.

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

Cited by 4 publications

References 53 publications

Long Latency Reflexes in Clinical Neurology: A Systematic Review

Long Latency Reflexes in Clinical Neurology: A Systematic Review

White matter microstructure relates to motor outcomes in myotonic dystrophy type 1 independently of disease duration and genetic burden

Quantitative muscle MRI as a sensitive marker of early muscle pathology in myotonic dystrophy type 1

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