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109 Possible Causes for Myotonic Discharges

  • Autosomal Recessive Progressive External Ophthalmoplegia

    BACKGROUND: Whole-exome sequencing using next-generation technologies has been previously demonstrated to be able to detect rare disease-causing variants. Progressive external ophthalmoplegia (PEO) is an inherited mitochondrial disease that follows either autosomal dominant or recessive forms of inheritance[…][ncbi.nlm.nih.gov]

  • Myotonia Congenita

    We report a 10-year-old girl with myotonia, "Herculean appearance" and electromyographic confirmation of myotonic discharges.[ncbi.nlm.nih.gov] In a later study myotonic discharges were found electromyographically in the muscles of the patient and her brother.[ncbi.nlm.nih.gov] Brief myotonic discharges were present in at least one parent in 67% of the families. Fathers were more likely than mothers to show these discharges.[ncbi.nlm.nih.gov]

  • Paramyotonia Congenita

    With warming, the myotonic discharges decreased as the repetitive discharges reappeared.[ncbi.nlm.nih.gov] In the patients with persistent weakness there were no spontaneous myotonic discharges, but myopathic abnormalities were found in proximal muscle.[ncbi.nlm.nih.gov] However, immersion of the hand in ice water for 10 minutes caused unambiguous differences: In paramyotonia, the myotonic discharges disappeared and the muscles went into stiff[ncbi.nlm.nih.gov]

  • Oculopharyngodistal Myopathy

    EMG showed myotonic discharges in oculopharyngodistal myopathy.[ncbi.nlm.nih.gov] Electromyography revealed myopathic changes and myotonic discharges. Both cardiologic and pneumologic evaluation did not reveal abnormalities.[ncbi.nlm.nih.gov] Electromyography revealed myogenic changes with inconsistent myotonic discharge. The respiratory function test revealed subclinical respiratory muscle involvement.[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    Neurophysiological studies showed continuous high frequently low voltage activity at rest and myotonic discharges which did not wax and wane.[ncbi.nlm.nih.gov] Myotonic discharges, complex repetitive discharges, myokymic discharges, positive sharp waves and fibrillation potentials were seen on EMG needle examination and MUPs were[acta.tums.ac.ir] […] was atypical myotonic discharges.[cags.org.ae]

  • Normokalemic Periodic Paralysis

    discharges in one patient.[ncbi.nlm.nih.gov] Needle electromyography revealed abundant myotonic discharges.[jstage.jst.go.jp] […] electromyography in nine patients revealed increased compound muscle action potentials after short exercise and a delayed decline during rest after long exercise as well as myotonic[ncbi.nlm.nih.gov]

  • Myotonic Dystrophy

    A needle electromyography showed insertional classic myotonic discharges. A nerve conduction study showed mild axonal sensorimotor polyneuropathy.[ncbi.nlm.nih.gov] Surprisingly, myotonic discharges were detected in electromyography (EMG).[ncbi.nlm.nih.gov] discharges.[ncbi.nlm.nih.gov]

  • Generalized Myotonia of Thomsen

    Diagnostic methods The clinical diagnosis can easily be confirmed by electromyography (EMG), which reveals myotonic discharges in association with hyperexcitation of the muscle[orpha.net] EMG shows a myopathic pattern with myotonic discharges.[neuroweb.us] Small muscle potentials, myotonic discharges are present on EMG, with no CMAP decrement with cooling. Biopsy is normal.[neuroweb.us]

  • Hyperkalemic Periodic Paralysis

    The myotonic discharge is due to increased Na( ) influx through defective Na( ) channels that triggers generation of several action potentials.[ncbi.nlm.nih.gov] Abstract Hyperkalemic periodic paralysis (HyperKPP) is characterized by myotonic discharges that occur between episodic attacks of paralysis.[ncbi.nlm.nih.gov] The patient evaluation included an electromyogram, without cooling, which showed myotonic discharges (data not shown).[jci.org]

  • Autoimmune Necrotizing Myopathy

    Myotonic discharges were more common in statin-associated NAM.[ncbi.nlm.nih.gov] discharges.[news-medical.net] […] strongly associated with the presence of anti-3-hydroxy-3-methylglutaryl–CoA reductase antibodies – the combination of which was linked to a milder disease course – and myotonic[news-medical.net]

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