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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[…][]

  • Myotonia Congenita

    We report a 10-year-old girl with myotonia, "Herculean appearance" and electromyographic confirmation of myotonic discharges.[] In a later study myotonic discharges were found electromyographically in the muscles of the patient and her brother.[] 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.[]

  • Paramyotonia Congenita

    With warming, the myotonic discharges decreased as the repetitive discharges reappeared.[] In the patients with persistent weakness there were no spontaneous myotonic discharges, but myopathic abnormalities were found in proximal muscle.[] 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[]

  • Oculopharyngodistal Myopathy

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

  • Schwartz-Jampel Syndrome

    Neurophysiological studies showed continuous high frequently low voltage activity at rest and myotonic discharges which did not wax and wane.[] Myotonic discharges, complex repetitive discharges, myokymic discharges, positive sharp waves and fibrillation potentials were seen on EMG needle examination and MUPs were[] […] was atypical myotonic discharges.[]

  • Normokalemic Periodic Paralysis

    discharges in one patient.[] Needle electromyography revealed abundant myotonic discharges.[] […] 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[]

  • Myotonic Dystrophy

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

  • 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[] EMG shows a myopathic pattern with myotonic discharges.[] Small muscle potentials, myotonic discharges are present on EMG, with no CMAP decrement with cooling. Biopsy is normal.[]

  • Hyperkalemic Periodic Paralysis

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

  • Autoimmune Necrotizing Myopathy

    Myotonic discharges were more common in statin-associated NAM.[] discharges.[] […] 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[]

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