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

Three cases of severe asthma requiring mechanical ventilatory support after sudden cardiorespiratory collapse developed myoclonus following the hypoxemic insult. They were unable to stand, walk or feed themselves because of these jerky involuntary movements which were worse on intention. Oral clonazepam in varying doses up to 8 mg daily improved the myoclonus remarkably such that they were able to perform these functions unaided.
 ...
PMID:Myoclonus following severe asthma: clonazepam relieves. 657 42

Chlorambucil neurotoxicity was observed in two children treated for frequently relapsing minimal change nephrotic syndrome. In the first child the drug was overdosed. Myoclonic jerks were observed, followed by a generalized tonic-clonic seizure. Concomitant EEG abnormalities disappeared after discontinuation of therapy, but reappeared 6 months later without further seizures. In the second child chlorambucil treatment was started twice, but had to be interrupted each time; the first time because of sudden collapse, bradycardia and respiratory arrest, and the second time because of myoclonic jerks. EEG changes were limited to generalized slowing and improved after discontinuation of therapy. According to the literature chlorambucil neurotoxicity is found almost exclusively in children, after overdosage or in the nephrotic syndrome. Strict neurologic supervision of patients treated with this drug is recommended.
 ...
PMID:Chlorambucil neurotoxicity: report of two cases. 741 Jan 14

Wolfram syndrome was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. Other neurological features subsequently emerged, and "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) became a commonly accepted acronym. Here, we describe 4 further cases from 2 families, in whom there occurred previously unrecognized neurological features, central apnea and neurogenic upper airway collapse, together precipitating primary respiratory failure (fatal in 1 case), startle myoclonus (in 2 unrelated cases), axial rigidity, and Parinaud's syndrome. Magnetic resonance images revealed striking brainstem atrophy affecting, in particular, the pons and midbrain. The mitochondrial DNA from 3 cases (and relatives) showed no evidence of any of the previously reported abnormalities. These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.
 ...
PMID:Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. 860 54

Since a report in 1996 of 10 cases of Creutzfeldt-Jakob disease (CJD) with onset in a younger than usual age, a pattern of the disease has emerged. This includes early neuropsychiatric features and sensory symptoms and neurological signs such as ataxia and involuntary movements later in the course of the disease. Three patients with varied clinical presentations and disease course seen at a single neurology unit are described. The first patient was characterised by cognitive and psychiatric symptoms together with neurological signs. The second patient presented with unusual behavioural disturbance and episodes of collapse. The third patient exhibited striking psychomotor retardation and had abnormal CSF and MRI findings. All patients succumbed in a state of akinetic mutism and myoclonus. All three patients had the methionine/methionine genotype at codon 129 of the PrP gene and in two of the three patients a tonsil biopsy was performed with positive results. These two patients also tested positive for the 14.3.3. protein in the CSF. Whereas late features of the disease seem very similar in all cases, the initial presentation was variable and underlines the uncertainty of the range of the clinical phenotype. Successful diagnosis demands a high index of clinical suspicion.
 ...
PMID:New variant Creutzfeldt-Jakob disease: three case reports from Leicestershire. 1067 25

Caffeine is a natural alkaloid methylxanthine that is found in various plants such as coffee or tea. Symptoms of a severe overdose may present with hypokalemia, hyponatremia, ventricular arrhythmias, hypertension followed by hypotension, respiratory failure, seizures, rhabdomyolysis, ventricular fibrillation and finally circulatory collapse. A 21-year-old woman called for the ambulance herself soon after the ingestion of about 10,000 mg of caffeine. At the arrival of the ambulance, the patient went into cardiac arrest almost immediately. After a total resuscitation period of 34 min including seven counter-shocks and 2 mg epinephrine, the patient was stable enough to be transferred to the hospital. The patient soon went into VF again and received two more counter-shocks and 1 mg epinephrine and finally an intravenous bolus dose of 300 mg amiodarone. The initial arterial blood gas showed pH at 6.47, lactate at 33 mmol/l and potassium level at 2.3 mmol/l. Unfortunately, no blood samples for caffeine analysis were taken. Three days after hospital admission, the patient developed myoclonus, which did not respond to medical treatment. Excessive intake of caffeine may produce arrhythmias and pronounced hypokalemia and ensuing ventricular fibrillation. In case of counter-shock-resistant VF, it can be necessary to give an early loading dose of amiodarone. Furthermore, it may be beneficial to replace the potassium as early as possible. Epinephrine and buffer solutions used during resuscitation may further decrease blood potassium levels and should be administrated cautiously. Epinephrine can be replaced by other vasopressor drugs, such as vasopressin without effects on beta-receptors.
 ...
PMID:A case of fatal caffeine poisoning. 2064 25

Cerebral disorders are known to be associated with myoclonus, but spinal pathologies have received little attention as a causative factor in movement disorders. Propriospinal myoclonus (PSM) is a rare hyperkinetic movement disorder caused by activity of a spinal pattern generator localized in a few segments of the spinal cord, spreading to other intraspinal segments via propriospinal pathways. Majority of cases of PSM are reported as functional movement disorders. Structural lesions were found in only a small number of reported cases. We present this rare case report of a patient who developed PSM 2 years following spinal surgery, done 5 years ago for D6-D7 vertebral body collapse. To the best of our knowledge, only few cases of PSM have been reported after spinal surgery and none from India.
 ...
PMID:Delayed Propriospinal Myoclonus Following Dorsal Spinal Cord Surgery. 3173 79