Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1

Logigian, Eric L.; Blood, C. L.; Barbieri, C.A.; Martens, William; Wiegner, Allen W.; Thornton, Charles A.; Moxley, Richard T.

doi:10.1212/01.wnl.0000118206.49652.a3

Cited by 40 publications

(48 citation statements)

References 20 publications

(22 reference statements)

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“…Lower EMG and MMG amplitude parameters values accompanied this force deficit in patients with DM1. Collectively, the DM1-induced alteration in Ca 2+ release, the reduction in the number of efficient motor units, as witnessed by the lower EMG and MMG amplitude, and the increased fibrosis and adipose deposition may all concur to explain the reduction in force [5,35,36].…”

Section: Emg Mmg and F Parametersmentioning

confidence: 99%

“…A longer duration of this component may suggest that an alteration of some electrochemical process involved in the synaptic latency may have occurred with DM1, at least in distal muscles, which are usually more affected than the proximal ones [1,5].…”

Section: Delays During Muscle Contractionmentioning

confidence: 99%

“…The longer duration of t MMG-F in DM1 may be suggestive of an alteration of the F transmission to the tendon insertion point. Likely, the modification occurring in DM1 at the muscle level, such as fibrosis and adipose deposition [5], may have reduced the whole efficiency in SEC tensioning.…”

Section: Delays During Muscle Contractionmentioning

confidence: 99%

“…Some authors hypothesized two different mechanisms to describe the cross-bridges and SEC behaviour of a muscle presenting the myotonic phenomenon [5,42]. The first mechanism implies two populations of muscle fibres: (i) normally relaxing fibres, and (ii) slowly relaxing fibres.…”

Section: Delays During Muscle Relaxationmentioning

confidence: 99%

“…The main features at the skeletal muscle level are muscle weakness and grip and percussion myotonia [1]. Distal muscles are generally more compromised than the proximal ones [1,5].…”

Section: Introductionmentioning

confidence: 99%

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Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1

Esposito

Cè

Rampichini

et al. 2016

Neuromuscular Disorders

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This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. Highlights Patients with myotonic dystrophy type 1 (DM1) were investigated isometrically  We calculated the electromechanical delays during muscle contraction and relaxation  Delays were partitioned into electrochemical and mechanical components  Measurements reliability was very high in both patients and controls  Delays were longer in DM1, especially during muscle relaxation AbstractThe electromechanical delay during muscle contraction and relaxation can be partitioned into mainly electrochemical and mainly mechanical components by an EMG, mechanomyographic, and force combined approach. Components duration and measurements reliability were investigated during contraction and relaxation in a group of patients with myotonic dystrophy type 1 (DM1, n=13) and in healthy controls (n=13). EMG, mechanomyogram, and force were recorded in DM1 and in age-and body-matched controls from tibialis anterior (distal muscle) and vastus lateralis (proximal muscle) muscles during maximum voluntary and electrically-evoked isometric contractions. The electrochemical and mechanical components of the electromechanical delay during muscle contraction and relaxation were calculated off-line. Maximum strength was significantly lower in DM1 than in controls under both experimental conditions. All electrochemical and mechanical components were significantly longer in DM1 in both muscles.Measurements reliability was very high in both DM1 and controls. The high reliability of the measurements and the differences between DM1 patients and controls suggest that the EMG, mechanomyographic, and force combined approach could be utilized as a valid tool to assess the level of neuromuscular dysfunction in this pathology, and to follow the efficacy of pharmacological or non-pharmacological interventions.

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Section: Emg Mmg and F Parametersmentioning

confidence: 99%

Section: Delays During Muscle Contractionmentioning

confidence: 99%

Section: Delays During Muscle Contractionmentioning

confidence: 99%

Section: Delays During Muscle Relaxationmentioning

confidence: 99%

“…The main features at the skeletal muscle level are muscle weakness and grip and percussion myotonia [1]. Distal muscles are generally more compromised than the proximal ones [1,5].…”

Section: Introductionmentioning

confidence: 99%

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Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1

Esposito

Cè

Rampichini

et al. 2016

Neuromuscular Disorders

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Open-Label Trial of Recombinant Human Insulin-like Growth Factor 1/Recombinant Human Insulin-like Growth Factor Binding Protein 3 in Myotonic Dystrophy Type 1

Heatwole¹,

Eichinger²,

Friedman³

et al. 2011

Arch Neurol

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Drug treatment for myotonia

Trip

Drost

Engelen

et al. 2006

Cochrane Database of Systematic Reviews

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Due to insufficient good quality data and lack of randomised studies, it is impossible to determine whether drug treatment is safe and effective in the treatment of myotonia. Small single studies give an indication that clomipramine and imipramine have a short-term beneficial effect and that taurine has a long-term beneficial effect on myotonia. Larger, well-designed randomised controlled trials are needed to assess the efficacy and tolerability of drug treatment for myotonia.

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Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1

Cited by 40 publications

References 20 publications

Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1

Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1

Open-Label Trial of Recombinant Human Insulin-like Growth Factor 1/Recombinant Human Insulin-like Growth Factor Binding Protein 3 in Myotonic Dystrophy Type 1

Drug treatment for myotonia

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