Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied 26 patients belonging to 20 families with a disorder caused by mutations in the POLG gene. The patients were homozygous for 1399 G/A or 2243 G/C (giving the amino acid changes A467T and W748S, respectively) or compound heterozygotes for these two mutations. Irrespective of genotype, the patients exhibited a progressive neurological disorder usually starting in their teens and characterized by epilepsy, headache, ataxia, neuropathy, myoclonus and late onset ophthalmoplegia. However, major differences in survival were seen depending on genotype, with compound heterozygotes having a significantly shorter survival time than patients homozygous either for the A467T or W748S (P = 0.006). Epilepsy occurred in 22 of the 26 patients and in the majority of these there was an occipital EEG focus. Episodes of both generalized and focal motor status epilepticus were common and highly resistant to treatment, even with generalized anaesthesia. Status epilepticus was the recorded cause of death in 9 of 11 patients. Liver failure was the sole cause of death in two patients and evolved terminally in six others, all but one of whom were being treated with sodium valproate. Two patients underwent liver transplantation, but only one survived. Delayed psychomotor development and subsequent cognitive decline also occurs. This study demonstrates the clinical spectrum of a disorder that combines features of Alpers' syndrome and a later onset mitochondrial spinocerebellar ataxia with epilepsy and headache. Patients with this disorder are at high risk of death from status epilepticus and from liver failure, if exposed to sodium valproate. Each mutation appears capable of producing a disorder that is recessively inherited, although we also find evidence in one patient suggesting that heterozygotes may manifest. Compound heterozygotes have a significantly more severe phenotype raising the possibility of a dominant negative effect.
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PMID:The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. 1743 11

A nulliparous woman presented with pre-eclampsia at 39 weeks' gestation. A combined spinal-epidural anaesthesia was employed for Caesarean section but the spinal component produced no discernible block, so the epidural was topped up with 20 ml ropivacaine 0.75% without problem and surgery was uneventful. A week after delivery she developed twitching of her legs and opisthotonus, that was initially thought to be eclampsia but was subsequently diagnosed as spinal myoclonus. She was treated with oral carbamazepine and diazepam, with improvement over the next 4 days, and discharged home a week later taking oral carbidopa and levodopa. Her symptoms resolved completely 6 months after the initial event.
Anaesthesia 2006 Jun
PMID:Spinal myoclonus following combined spinal-epidural anaesthesia for Caesarean section. 1670 99

Focal myoclonus of peripheral origin, i.e., peripheral myoclonus (PM), is a rare disorder. Although PM always accompanies a lesion in the peripheral nerve, supplying the affected muscles, its mechanism remains unclear. Here we present a patient with focal myoclonus of the thigh muscles following a traumatic lesion in the femoral nerve. Lumbar spinal anesthesia, as well as local anesthetic block of the femoral nerve, completely abolished the patient's myoclonus temporarily. This movement was remarkably diminished after a surgical exploration of the wound with the removal of fibrous tissue beneath the scar and liberation of the femoral nerve. This case suggests the contribution of a spinal relay mechanism in the development of PM, in addition to the contribution of a nerve lesion.
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PMID:The contribution of a spinal mechanism in developing peripheral myoclonus: a case report. 1748 7

Etomidate does not depress the upper airway reflexes, making it difficult to insert a laryngeal mask airway (LMA) when using it for anaesthesia. This study investigated the effect of adding remifentanil to etomidate for LMA insertion. Fifty adult patients, undergoing cystoscopy, were randomized to two groups. The propofol-remifentanil group (n=25) received propofol anaesthesia induction (2.5 mg/kg) and a remifentanil bolus of 0.5 microg/kg, followed by a 2-min remifentanil infusion of 0.05 microg/kg per min. The etomidate-remifentanil group (n=25) received etomidate anaesthesia induction (0.3 mg/kg) and remifentanil as described. The LMA was inserted by a blinded anaesthetist who assessed a number of parameters. Only 13 LMAs were inserted at the first attempt in the etomidate-remifentanil group compared with 23 in the propofol-remifentanil group. Gagging, chest rigidity and myoclonus occurred significantly more frequently in the etomidate-remifentanil group. We conclude that the addition of remifentanil to etomidate anaesthesia induction does not improve LMA insertion.
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PMID:Remifentanil and etomidate for laryngeal mask airway insertion. 1803 6

Etomidate is a popular anaesthetic induction agent, but it frequently causes myoclonic movements. Although both benzodiazepines and opioids reduce myoclonus, there has been no comparative study between these agents. Thus, we conducted a prospective, randomized study to compare midazolam and remifentanil as pre-treatment agents for reducing etomidate-induced myoclonus in 90 adults undergoing surgery. Patients were pre-treated before the etomidate injection, either with saline (Group C), midazolam 0.5 mg/kg (Group M) or remifentanil 1 microg/kg (Group R). Both Groups M and R showed a significantly lower incidence of myoclonus compared with Group C (17%, 17% and 77%, respectively). The incidence of myoclonus was not significantly different between Groups M and R, but 10% (n = 10) of the patients in Group R experienced remifentanil-related side-effects. We conclude that midazolam is probably a better choice than remifentanil for reducing etomidate-induced myoclonus during anaesthesia induction.
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PMID:A comparison of midazolam with remifentanil for the prevention of myoclonic movements following etomidate injection. 1823 Feb 63

We present a case of accidental injection of tranexamic acid instead of bupivacaine during spinal anesthesia. One minute after intrathecal injection of 3.5 mL of solution, the patient developed myoclonus of his lower extremities. Accidental intrathecal injection of the wrong drug was suspected and a used ampule of tranexamic acid discovered in the trash can. The ampules of tranexamic acid (500 mg/5 mL) and bupivacaine (5 mg/mL, Merck, Darmstadt, Germany) were similar in appearance. General anesthesia was induced. Ten hours later, the patient developed myoclonus of his upper extremities and face. His polymyoclonus was successfully treated with phenytoin, sodium thiopental infusion, sodium valproate and supportive care of the hemodynamic, and respiratory systems. The patient's condition progressively improved to full recovery.
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PMID:Polymyoclonus seizure resulting from accidental injection of tranexamic acid in spinal anesthesia. 1944 37

Propofol is now the most commonly used intravenous anesthetic-for general anesthesia and sedation because of its rapid onset and recovery. Besides the well-known adverse effects of cardiovascular and respiratory depression, recent studies indicate that propofol may cause excitatory phenomena such as myoclonus, opisthotonus, and even seizure. However, the mechanisms of these excitatory effects of propofol have not been elucidated. Considering glutamate as the principle excitatory neurotransmitter in the central nervous system and excessive glutamatergic synaptic transmission can cause seizure, we examined the effect of propofol on the release of glutamate from rat cerebral cortex nerve terminals (synaptosomes). Results showed that subanesthetic concentration propofol facilitated 4-aminopyridine (4-AP), but not KCl- or ionomycin-evoked glutamate release from nerve terminals. The facilitation of 4-AP-evoked glutamate release by propofol also occurred in the calcium chelation and significantly attenuated by glutamate transporter inhibitors, DL-threo-beta-benzyloxyaspartic acid (DL-TBOA) and L-trans-pyrrolidine-2,4-dicarboxylic acid (L-trans-PDC). In addition, propofol increased 4-AP-evoked depolarization of the plasma membrane potential. Furthermore, protein kinase C (PKC) inhibition suppressed propofol-mediated facilitation of glutamate release. These results suggest that subanesthetic concentration propofol facilitates glutamate release from rat cerebrocortical glutamatergic terminals by increasing nerve terminal excitability, likely through the activation of PKC pathway. This finding may provide an explanation for propofol-induced excitatory phenomena.
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PMID:Facilitation of glutamate release from rat cerebral cortex nerve terminal by subanesthetic concentration propofol. 1948 7

Propofol, a GABA-mediated inhibitor of excitatory neurotransmitter, is a popular intravenous agent for general anesthesia and sedation. Its side effects reportedly include opisthotonus, seizures, and myoclonus, and are usually manageable. We present a patient who developed propofol-induced delayed-onset refractory myoclonic seizures that resisted antiepileptic drugs.
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PMID:A case of propofol-induced delayed-onset refractory myoclonic seizures. 1951 84

Accurate prediction of neurological outcome in survivors of cardiac arrest may be difficult. We report the case of a 44-year-old survivor of a hypoxic cardiac arrest who repeatedly developed relentless myoclonic jerks on attempted discontinuation of his propofol infusion. These were initially thought to represent myoclonic status epilepticus before the correct diagnosis of Lance-Adams syndrome was made. Lance-Adams syndrome is a rare disorder seen in survivors of profound hypoxic episodes. It is characterised by intention myoclonus but preserved intellect. Accurate distinction between myoclonic status epilepticus and Lance-Adams syndrome is vital as they have very different prognoses. The different pathophysiology and distinguishing clinical features of these two conditions are highlighted.
Anaesthesia 2009 Aug
PMID:Myoclonus after cardiac arrest: pitfalls in diagnosis and prognosis. 1960 97

An 18-year-old woman was treated with neuroleptic analgesia using fentanyl, morphine, droperidol and haloperidol for general anesthesia and pain control for her knee operation. Postoperatively, she showed emotional unstableness, following dyspnea, tachycardia, fever, hyperhydrosis, muscle rigidity and myoclonus like involuntary movement. She received infusion of 140 mg dantrolene in total under suspicion of having neuroleptic malignant syndrome, but her symptoms improved slightly. After being transferred to our hospital, she exhibited immobility, mutism, rigidity, and catalepsy, and she was suspected of having lethal catatonia. Infusion of diazepam 10 mg resulted in dramatical improvement of her symptoms. Differential diagnosis between neuroleptic malignant syndrome and catatonia is difficult; however, a first line therapy is differential diagnosis. Thus, physician should consider catatonia when treating neuroleptic malignant like syndrome.
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PMID:[Case with difficulty in differentiating between transient neuroleptic malignant syndrome and catatonia after neuroleptic analgesia]. 2016 67


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