Sleep apnea syndrome in Thomsen's diseae. A case report

Striano, Salvatore; R, Meo; Bilo, Leonilda; Vitolo, S

doi:10.1016/0013-4694(83)90258-4

Cited by 10 publications

(2 citation statements)

References 6 publications

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“…From a functional perspective, humans with these disorders experience muscle stiffness which interferes with muscle contraction; this impairment eases with repeated contractions, the so‐called ‘warm‐up’ phenomenon (Ptacek et al 1993). Respiratory problems, including ‘breathing difficulties’, dyspnoea, sleep apnoea and daytime alveolar hypoventilation, have been reported in human myotonia congenita (Garcin et al 1967; Harel et al 1979; Striano et al 1983; Estenne et al 1984). Myotonic goats are described as having impaired ability to jump and climb fences, whereas myotonic mice walk slowly and stiffly but have relatively normal swimming performance (Heller et al 1982; Watkins & Watts, 1984).…”

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Isotonic contractile impairment due to genetic CLC‐1 chloride channel deficiency in myotonic mouse diaphragm muscle

Lunteren

Pollarine

Moyer

2007

Experimental Physiology

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The hallmark of genetic CLC-1 chloride channel deficiency in myotonic humans, goats and mice is delayed muscle relaxation resulting from persistent electrical discharges. In addition to the ion channel defect, muscles from myotonic humans and mice also have major changes in fibre type and myosin isoform composition, but the extent to which this affects isometric contractions remains controversial. Many muscles, including the diaphragm, shorten considerably during normal activities, but shortening contractions have never been assessed in myotonic muscle. The present study tested the hypothesis that CLC-1 deficiency leads to an impairment of muscle isotonic contractile performance. This was tested in vitro on diaphragm muscle from SWR/JClcn1 adr-mto /J myotonic mice. The CLC-1-deficient muscle demonstrated delayed relaxation, as expected. During the contractile phase, there were significant reductions in power and work across a number of stimulation frequencies and loads in CLC-1-deficient compared with normal muscle, the magnitude of which in many instances exceeded 50%. Reductions in shortening and velocity of shortening occurred, and were more pronounced when calculated as a function of absolute than relative load. However, the maximal unloaded shortening velocity calculated from Hill's equation was not altered significantly. The impaired isotonic contractile performance of CLC-1-deficient muscle persisted during fatigue-inducing stimulation. These data indicate that genetic CLC-1 chloride channel deficiency in mice not only produces myotonia but also substantially worsens the isotonic contractile performance of diaphragm muscle.

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confidence: 99%

Isotonic contractile impairment due to genetic CLC‐1 chloride channel deficiency in myotonic mouse diaphragm muscle

Lunteren

Pollarine

Moyer

2007

Experimental Physiology

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“…Involvement of respiratory muscles may lead to "breathing difficulties", dyspnea, sleep apnea, and daytime alveolar hypoventilation [23-26]. For many subjects the myotonia has an adverse effect on their ability to engage in sports [2,21-23].…”

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confidence: 99%

Fatigue-inducing stimulation resolves myotonia in a drug-induced model

2011

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BackgroundSlowed muscle relaxation is the contractile hallmark of myotonia congenita, a disease caused by genetic CLC-1 chloride channel deficiency, which improves with antecedent brief contractions ("warm-up phenomenon"). It is unclear to what extent the myotonia continues to dissipate during continued repetitive contractions and how this relates temporally to muscle fatigue. Diaphragm, EDL, and soleus muscles were examined in vitro during repetitive 20 Hz and 50 Hz train stimulation in a drug-induced (9-AC) rat myotonia model.ResultsAt the onset of stimulation, 9-AC treated diaphragm and EDL muscle had markedly prolonged half relaxation and late relaxation times (range 147 to 884 ms, 894 to 1324 ms). Half relaxation and late relaxation times reached near-normal values over the 5-10 and 10-40 subsequent contractions, respectively. In both muscles myotonia declined faster during repetitive 50 Hz than 20 Hz stimulation, and much faster than the rate of force loss during fatigue at both frequencies. Soleus muscle was resistant to the myotonic effects of 9-AC.ConclusionsIn a drug-induced model of mechanical myotonia, fatigue-inducing stimulation resolves the myotonia, which furthermore appears to be independent from the development of muscle fatigue.

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Sleep and Neuromuscular Diseases

George¹,

Guilleminault²

2005

Principles and Practice of Sleep Medicine

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Sleep apnea syndrome in Thomsen's diseae. A case report

Cited by 10 publications

References 6 publications

Isotonic contractile impairment due to genetic CLC‐1 chloride channel deficiency in myotonic mouse diaphragm muscle

Isotonic contractile impairment due to genetic CLC‐1 chloride channel deficiency in myotonic mouse diaphragm muscle

Fatigue-inducing stimulation resolves myotonia in a drug-induced model

Sleep and Neuromuscular Diseases

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