Peripheral nerve involvement in myotonic dystrophy type 2 – similar or different than in myotonic dystrophy type 1?

Nojszewska, Monika; Łusakowska, Anna; Szmidt-Salkowska, Elzbieta; Gaweł, Malgorzata; Lipowska, Marta; Sułek, Anna; Krysa, Wioletta; Rajkiewicz, Marta; Seroka, Andrzej; Kaczmarek, Katarzyna; Kamińska, Anna

doi:10.1016/j.pjnns.2015.04.008

Cited by 11 publications

(15 citation statements)

References 31 publications

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“…NCS and nerve biopsy studies documented a sensory-motor polyneuropathy with predominant axonal damage. Thus, our findings confirm literature data indicating sensory-motor axonal neuropathy as the most frequent symptom in DM patients [4, 6, 7]. …”

Section: Discussionsupporting

confidence: 92%

“…A symptomatic peripheral neuropathy has been rarely reported in DM2 patients [6, 7], yet in these cases, DM2 had its onset with typical muscle symptoms, and symptoms of neuropathy occurred later in the disease course.…”

Section: Discussionmentioning

confidence: 99%

“…Interestingly, dysautonomic symptoms were reported in 2 other DM2 cases with symptomatic neuropathy [6, 7], suggesting that this feature may be typical of DM2-related polyneuropathy. NCS and nerve biopsy studies documented a sensory-motor polyneuropathy with predominant axonal damage.…”

Section: Discussionmentioning

confidence: 99%

“…DM1 and DM2 are multisystem disorders variably affecting, besides the skeletal muscle, other tissues and organs [2]. Among extra-muscular manifestations, a predominantly subclinical involvement of the peripheral nerve has been reported in about 15–30% of DM1 patients [4, 5], and recent neurophysiological studies suggest similar findings in DM2 [6, 7]. …”

Section: Introductionmentioning

confidence: 99%

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Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

et al. 2018

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Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy caused by the expansion of an intronic tetranucleotide CCTG repeat in CNBP on chromosome 3. As DM1, DM2 is a multisystem disorder affecting, beside the skeletal muscle, various other tissues, including peripheral nerves. Indeed, a subclinical involvement of peripheral nervous system has been described in several cohorts of DM2 patients, whereas DM2 patients manifesting clinical signs and/or symptoms of neuropathy have been only rarely reported. Here, we describe 2 related DM2 patients both of whom displayed an atypical disease onset characterized by dysautonomic symptoms, possibly secondary to peripheral neuropathy.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

et al. 2018

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“…The age of both groups, DM1 and DM2, was similar to that in a previous study, with about 10-year difference between the subtypes 24. The sex distribution was slightly different from that in the previous study in patients with DM1, while it was comparable in those with DM2 24.…”

Section: Discussionsupporting

confidence: 79%

Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies

Banach¹,

Antczak²,

Rola

2017

NDT

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BackgroundMyotonic dystrophy (DM) type 1 and type 2 are inherited diseases characterized by myotonia and myopathy. Additional symptoms include, among others, peripheral neuropathy and sleep-related breathing disorders (SRBDs). There is growing evidence for a complex association between DM1 and DM2, which was described in patients with diabetes mellitus and in the general population. In this study, we investigated whether there is an association between peripheral neuropathy and SRBDs also in the population of patients with DM.MethodsThe study included 16 patients with DM1 (mean age, 37.9±14.1 years; 20–69 years) and eight patients with DM2 (mean age, 47.6±14.1 years; 20–65 years), who underwent a sensory and motor nerve conduction study (NCS) and diagnostic screening for SRBDs. In both groups, the NCS parameters were correlated with respiratory parameters.ResultsIn both groups, the amplitude of the ulnar sensory nerve action potential (SNAP) correlated with the mean arterial oxygen saturation (SaO2). In addition, in the DM2 group, the median SNAP correlated with the mean SaO2. In the DM1 group, the median SNAP and the distal motor latency (DML) of the ulnar nerve correlated with the apnea–hypopnea index, while the oxygen desaturation index correlated with the DML of the tibial nerve and with conduction velocity in the sural nerve.ConclusionOur results indicate a complex association between neuropathy and SRBDs in DM1 and DM2. Axonal degeneration may contribute to nocturnal hypoxemia and vice versa. Neuropathy may contribute to muscle weakness, which in turn may cause respiratory events.

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

et al. 2019

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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. Cooccurring 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. K E Y W O R D S excitation-contraction coupling, homosynaptic depression, H-reflex, long-latency reflex, muscle plasticity, perturbation

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Peripheral nerve involvement in myotonic dystrophy type 2 – similar or different than in myotonic dystrophy type 1?

Abstract: Peripheral nerves are quite frequently involved in DM2, but abnormalities meeting the criteria of polyneuropathy are rarely found. The incidence of peripheral nerve involvement is similar in both types of myotonic dystrophy.

Cited by 11 publications

References 31 publications

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies

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

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