scholarly journals Paving the way for a better understanding of the pathophysiology of gait impairment in myotonic dystrophy: a pilot study focusing on muscle networks

2019 ◽  
Vol 16 (1) ◽  
Author(s):  
Antonino Naro ◽  
Simona Portaro ◽  
Demetrio Milardi ◽  
Luana Billeri ◽  
Antonino Leo ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Muscle Weakness ◽  
Rehabilitation Program ◽  
Muscle Coordination ◽  
Gait Impairment ◽  
Time Frequency ◽  
Lower Limb Muscles ◽  
Muscle Impairment ◽  
System Disorder ◽  
Muscle Connectivity

Abstract Background A proper rehabilitation program targeting gait is mandatory to maintain the quality of life of patients with Myotonic dystrophy type 1 (DM1). Assuming that gait and balance impairment simply depend on the degree of muscle weakness is potentially misleading. In fact, the involvement of the Central Nervous System (CNS) in DM1 pathophysiology calls into account the deterioration of muscle coordination in gait impairment. Our study aimed at demonstrating the presence and role of muscle connectivity deterioration in patients with DM1 by a CNS perspective by investigating signal synergies using a time-frequency spectral coherence and multivariate analyses on lower limb muscles while walking upright. Further, we sought at determining whether muscle networks were abnormal secondarily to the muscle impairment or primarily to CNS damage (as DM1 is a multi–system disorder also involving the CNS). In other words, muscle network deterioration may depend on a weakening in signal synergies (that express the neural drive to muscles deduced from surface electromyography data). Methods Such an innovative approach to estimate muscle networks and signal synergies was carried out in seven patients with DM1 and ten healthy controls (HC). Results Patients with DM1 showed a commingling of low and high frequencies among muscle at both within– and between–limbs level, a weak direct neural coupling concerning inter–limb coordination, a modest network segregation, high integrative network properties, and an impoverishment in the available signal synergies, as compared to HCs. These network abnormalities were independent from muscle weakness and myotonia. Conclusions Our results suggest that gait impairment in patients with DM1 depends also on a muscle network deterioration that is secondary to signal synergy deterioration (related to CNS impairment). This suggests that muscle network deterioration may be a primary trait of DM1 rather than a maladaptive mechanism to muscle degeneration. This information may be useful concerning the implementation of proper rehabilitative strategies in patients with DM1. It will be indeed necessary not only addressing muscle weakness but also gait-related muscle connectivity to improve functional ambulation in such patients.

scholarly journals Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel

2011 ◽  
Vol 21 (6) ◽  
pp. 1312-1324 ◽  
Author(s):  
Zhen Zhi Tang ◽  
Viktor Yarotskyy ◽  
Lan Wei ◽  
Krzysztof Sobczak ◽  
Masayuki Nakamori ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Myotonic Dystrophy ◽  
Muscle Weakness

scholarly journals Effect of Parkinson’s disease and two therapeutic interventions on muscle activity during walking: a systematic review

2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Aisha Islam ◽  
Lisa Alcock ◽  
Kianoush Nazarpour ◽  
Lynn Rochester ◽  
Annette Pantall
Keyword(s):  
Parkinson’S Disease ◽  
Motor Activity ◽  
Lower Limb ◽  
Muscle Activity ◽  
Therapeutic Interventions ◽  
Gait Impairment ◽  
Dopaminergic Medication ◽  
Lower Limb Muscles ◽  
Limb Muscles ◽  
Functional Gait

Abstract Gait deficits are a common feature of Parkinson’s disease (PD) and predictors of future motor and cognitive impairment. Understanding how muscle activity contributes to gait impairment and effects of therapeutic interventions on motor behaviour is crucial for identifying potential biomarkers and developing rehabilitation strategies. This article reviews sixteen studies that investigate the electromyographic (EMG) activity of lower limb muscles in people with PD during walking and reports on their quality. The weight of evidence establishing differences in motor activity between people with PD and healthy older adults (HOAs) is considered. Additionally, the effect of dopaminergic medication and deep brain stimulation (DBS) on modifying motor activity is assessed. Results indicated greater proximal and decreased distal activity of lower limb muscles during walking in individuals with PD compared to HOA. Dopaminergic medication was associated with increased distal lower limb muscle activity whereas subthalamic nucleus DBS increased activity of both proximal and distal lower limb muscles. Tibialis anterior was impacted most by the interventions. Quality of the studies was not strong, with a median score of 61%. Most studies investigated only distal muscles, involved small sample sizes, extracted limited EMG features and lacked rigorous signal processing. Few studies related changes in motor activity with functional gait measures. Understanding mechanisms underpinning gait impairment in PD is essential for development of personalised rehabilitative interventions. Recommendations for future studies include greater participant numbers, recording more functionally diverse muscles, applying multi-muscle analyses, and relating EMG to functional gait measures.

Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy

2014 ◽  
Vol 21 (7) ◽  
pp. 1123-1126 ◽  
Author(s):  
Roya Khoshbakht ◽  
Akbar Soltanzadeh ◽  
Babak Zamani ◽  
Siyamak Abdi ◽  
Kourosh Gharagozli ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Muscle Weakness ◽  
Electrophysiological Findings ◽  
Ctg Expansion

scholarly journals Can modular strategies simplify neural control of multidirectional human locomotion?

2014 ◽  
Vol 111 (8) ◽  
pp. 1686-1702 ◽  
Author(s):  
Karl E. Zelik ◽  
Valentina La Scaleia ◽  
Yuri P. Ivanenko ◽  
Francesco Lacquaniti
Keyword(s):  
Lower Limb ◽  
Neural Control ◽  
Human Locomotion ◽  
Task Demands ◽  
Muscle Coordination ◽  
Muscle Control ◽  
Modular Control ◽  
Lower Limb Muscles ◽  
Modular Architectures ◽  
Muscle Activations

Each human lower limb contains over 50 muscles that are coordinated during locomotion. It has been hypothesized that the nervous system simplifies muscle control through modularity, using neural patterns to activate muscles in groups called synergies. Here we investigate how simple modular controllers based on invariant neural primitives (synergies or patterns) might generate muscle activity observed during multidirectional locomotion. We extracted neural primitives from unilateral electromyographic recordings of 25 lower limb muscles during five locomotor tasks: walking forward, backward, leftward and rightward, and stepping in place. A subset of subjects also performed five variations of forward (unidirectional) walking: self-selected cadence, fast cadence, slow cadence, tiptoe, and uphill (20% incline). We assessed the results in the context of dimensionality reduction, defined here as the number of neural signals needing to be controlled. For an individual task, we found that modular architectures could theoretically reduce dimensionality compared with independent muscle control, but we also found that modular strategies relying on neural primitives shared across different tasks were limited in their ability to account for muscle activations during multi- and unidirectional locomotion. The utility of shared primitives may thus depend on whether they can be adapted for specific task demands, for instance, by means of sensory feedback or by being embedded within a more complex sensorimotor controller. Our findings indicate the need for more sophisticated formulations of modular control or alternative motor control hypotheses in order to understand muscle coordination during locomotion.

A male with oligozoospermia and muscle weakness subsequently diagnosed with myotonic dystrophy

2015 ◽  
pp. 24-26
Author(s):  
Inge Liebaers ◽  
Willem Verpoest ◽  
Nick S. Macklon ◽  
Human M. Fatemi ◽  
Robert J. Norman ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Muscle Weakness

Lower limb muscle impairment in myotonic dystrophy type 1: The need for better guidelines

2015 ◽  
Vol 51 (4) ◽  
pp. 473-478 ◽  
Author(s):  
Émilie Petitclerc ◽  
Luc J. Hébert ◽  
Johanne Desrosiers ◽  
Cynthia Gagnon
Keyword(s):  
Myotonic Dystrophy ◽  
Lower Limb ◽  
Myotonic Dystrophy Type 1 ◽  
Lower Limb Muscle ◽  
Myotonic Dystrophy Type ◽  
Limb Muscle ◽  
Muscle Impairment

scholarly journals Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

2018 ◽  
Vol 21 (2) ◽  
pp. 39-43
Author(s):  
J Finsterer ◽  
C Stöllberger ◽  
A Reining-Festa ◽  
M Loewe-Grgurin ◽  
M Gencik
Keyword(s):  
Myotonic Dystrophy ◽  
Muscle Weakness ◽  
Factor V Leiden ◽  
Myotonic Dystrophy Type ◽  
Multisystem Disease ◽  
Myotonic Dystrophy Type 2 ◽  
Factor V Leiden Mutation ◽  
Endocrine Organs ◽  
Vesico Ureteral Reflux

Abstract Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association with hyperlipidemia and diabetes, as a manifestation of MD2 has not been reported. A 52-year-old female with a history of hyper-CKemia since the age of 32 years associated with diabetes, hyperlipidemia and hyperuricemia, developed anginal chest pain and proximal muscle weakness together with clinical myotonia when opening the fists at age 51 years. Examination revealed a left anterior hemiblock, sensorimotor neuropathy, extensive myotonic discharges on needle electromyography (EMG) and a CCTG-expansion of 134 bp on the ZNF9 gene. The family history was positive for hyper-CKemia and muscle weakness. In addition, over the previous years, she had developed vesico-ureteral reflux, cutaneous melanoma, renal cysts, cervix dysplasias, thrombocytosis, cataracts, arterial hypertension, heterozygous Factor V Leiden mutation, cholecystolithiasis, multiple ovarial cysts and vitamin D deficiency. Asymptomatic, long-term hyper-CKemia in association with multisystem disease should raise the suspicion of a MD2. Rare manifestations of MD2 may be thrombocytosis, hyperuricemia, vesico-ureteral reflux, gallstones, hypertension and cyst formation. In patients with asymptomatic hyper-CKemia, needle EMG should be considered. Myotonic dystrophy type 2 may take a mild course over many years if the CCTG-expansion is short.

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