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)

At present there are two methods of management of tinnitus: one old, by masking with a noise generator, and one new, by biofeedback. Neither of these methods is convenient and neither gets at the heart of the problem. A third method, using intravenous lidocaine as a test and oral carbamazepine therapy, was developed in the Pain Clinic of the Auckland General Hospital in New Zealand. This paper will report our brief experience with these drugs in the management of tinnitus and other similar disorders. Twenty-seven patients with intractable tinnitus had a significant reduction from a test dose of intravenous lidocaine and were treated with oral carbamazepine. Of this group 1 patient (4%) had complete relief, 21 patients (78%) had partial relief, and 5 patients (18%) had no relief. Complications were few and not serious, and either disappeared spontaneously or when the carbamazepine was stopped. One patient with palatal myoclonus, refractory to all other forms of treatment, had complete relief on a small dose of carbamazepine. It may be that palatal myoclonus, hemifacial spasm, and other such clonic convulsive disorders will be amenable to the same treatment.
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PMID:Management of tinnitus aurium with lidocaine and carbamazepine. 68 4

We reported a female infant with early myoclonic encephalopathy (EME). She was diagnosed on the basis of clinical and laboratory features including electroencephalographic and magnetic resonance image (MRI) findings. Frequent erratic myoclonic seizures appeared since 28 days after birth and EEG showed a typical suppression-burst pattern. We administered a high-dose pyridoxal phosphate, thyrotropin-releasing hormone analogue (TRH), and then ACTH, but could not control the seizures at all. With seizure types, we observed the change from erratic myoclonus to tonic spasms in series, with concomitant EEG change to hypsarhythmia at the age of 6 months. Cranial MRI revealed delayed myelination in the white matter but no brain malformation. We administered ACTH to her again and succeeded partially in the decrease of the seizure frequency, and significantly in the improvement of EEG findings. It is supposed that the responsiveness to ACTH treatment changed with age as the seizure patterns developed from erratic myoclonus to tonic spasm.
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PMID:[A longitudinal study of clinical and electroencephalographic findings in a female infant with early myoclonic encephalopathy]. 165 45

The descriptive aspects of all types of movement disorders and their related syndromes and terminologies used in the literature are reviewed and described. This comprises the features of (a) movement disorders secondary to neurological diseases affecting the extrapyramidal motor system, such as: athetosis, chorea, dystonia, hemiballismus, myoclonus, tremor, tics and spasm, (b) drug induced movement disorders, such as: akathisia, akinesia, hyperkinesia, dyskinesias, extrapyramidal syndrome, and tardive dyskinesia, and (c) abnormal movements in psychiatric disorders, such as: mannerism, stereotyped behaviour and psychomotor retardation. It is intended to bring about a more comprehensive overview of these movement disorders from a phenomenological perspective, so that clinicians can familiarize with these features for diagnosis. Some general statements are made in regard to some of the characteristics of movement disorders.
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PMID:Clinical features of movement disorders. 662 43

Two patients with objective tinnitus due to continuous tubal opening are presented. The objective tubal tinnitus was found to be due to clonic spasm of the muscles of the pharynx and eustachian tube and it can be easily differentiated by means of sonotubometry alone. The acoustic events occurring during the clicking sound were analyzed and were similar to the swallowing sound. Movements of the tympanic membrane were not seen in any of these ears. However, the close relationship of the tensor tympani and tensor palati muscles could explain the movement of the tympanic membrane in some cases. I believe that stapedius muscle spasm or a patulous tube as such does not cause the clicking sound, but it can occur in association with palatal myoclonus. The objective tubal tinnitus is heard as a result of the walls of the eustachian tube snapping together. Transection of the tensor veli palatini muscle tendon may be a useful method of treatment if the patient experiences objective tinnitus which is very distressing.
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PMID:Objective tubal tinnitus: a report of two cases. 688 47

Botulinum toxin (B; Botox), produced by the anaerobic bacterium Clostridium botulinum, causes temporary paralysis by blocking the presynaptic release of acetylcholine at the neuromuscular junction. This action is clinically used to alleviate muscle spasm by injecting the toxin directly into the overactive muscle. We report our experience with B injections in 2 women, aged 20 and 21, respectively, 1 of whom had bilateral palatal myoclonus and the other adductor spastic dysphonia. Both showed remarkable improvement of conditions for which, until now, we had no effective treatment. These are the first cases in Israel treated with B for otorhinolaryngological conditions.
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PMID:[Botulinum toxin for palatal myoclonus and spastic dysphonia]. 811 64

Botulinum toxin is now an established treatment for blepharospasm, hemifacial spasm, spasmodic torticollis, and spastic dysphonia. We report the effectiveness of botulinum toxin against painful limb myoclonus of spinal cord origin. The patient, a 16-year-old girl with a pulmonary vascular anomaly, Scimitar syndrome, suffered from an acute spinal cord infarct at age 11. She was left with paralysis of the right leg and bladder dysfunction. Four years after the original insult, she developed "painful cramping" and involuntary movements of the left thigh, which were unresponsive to a wide range of therapeutic trials. The movements were continuous, rhythmic, and confined to the left quadriceps muscles. Electromyographic examination revealed continuous myoclonic discharges. Treatment with botulinum toxin in the left quadriceps muscles resulted in complete cessation of pain and marked reduction in amplitude of the movements, both clinically and electromyographically. This observation indicates the efficacy of botulinum toxin in the treatment of painful spinal myoclonus.
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PMID:Effectiveness of botulinum toxin type A against painful limb myoclonus of spinal cord origin. 819 91

We report a case of Creutzfeldt-Jakob disease in a 38-year-old man, transmitted by a cadaveric dural graft. In August 1985, he underwent cranial nerve decompression for hemifacial spasm and received a cadaveric dural graft for dural closure. He had been well until he began to complain of blurred vision and headache in May, 1990. He developed dementia, myoclonus and urinary incontinence over the subsequent 3 months. He was admitted to our hospital in August, 1990. On admission, he was somnolent and showed gait disturbance, myoclonus in extremities and elevated deep tendon reflexes symmetrically. The results of analysis of blood, urinary and cerebrospinal fluid were normal. The initial computed tomography (CT) and magnetic resonance imaging detected no abnormality. Electroencephalography showed typical periodic synchronous discharge (PSD). There was progressive worsening of his neurological symptoms, and this developed into mutism in September, 1990. CT, 11 months after clinical onset, showed marked enlargement of the ventricles and the sulci. In view of his rapid worsening clinical course, PSD findings on electroencephalography, and delayed progressive changes of CT findings, the diagnosis of CJD disease was made. The cadaveric dural graft was suspected as the cause of the patient's condition. Since Thadani et al reported the first case of CJD transmitted by cadaveric dural graft in 1988, 3 other cases have been reported. This is most likely the 5th reported case of Creutzfeldt-Jakob disease transmitted by cadaveric dural graft.
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PMID:[Creutzfeldt-Jakob disease transmitted by cadaveric dural graft: a case report]. 845 5

The major form of familial hyperekplexia, a rare autosomal dominant disorder, is characterized by an abnormal startle reaction elicited by auditory and somatosensory stimuli, with transitory stiffness during the neontam period, followed later by falling attacks accompanied by momentary generalized muscular stiffness. Affected neonates occasionally have fatal hypertonia. The minor form is characterized only by an inconstant excessive startle response. We encountered a family in which three females presented with a partial or complete major form of the disease. All our patients were hyperreflexic, insecure gait was present in two subjects, without concomitant spontaneous nocturnal myoclonus. The pathophysiological basis of the hyperekplexia remains unclear. The abnormal startle reflex, probably related to the lack of inhibition by higher centers, is relayed in the caudal brainstem (ponto-medullary reticular formation), where bulbospinal motor efferents originate. Moreover, nonspecific changes such as large somatosensory evoked potentials and long-loop reflexes ("C-responses") may indicate increased cortical neuronal excitability. Polygraphic studies in these patients were normal. The locus of the major form of the disorder is located on chromosome 5q33-q35. Sequence analysis of the alpha 1 subunit of the inhibitory glycine receptor (GLRA1) revealed a mutation at the same codon 271 in several families (G1192A and G1192T). We analyzed this gene and found a G1192A mutation changing an ARG to a LEU codon in all three presented patients. Sporadic cases may represent new mutations or lack of penetrance in some family members. Only one of our three patients needed clonazepam. The diagnosis of this disorder rules out epilepsy, or psychogenic pathological startle reaction. Electrophysiological criteria are useful, however perinatal hypertonia or a tonic generalized spasm accompanied with falls following an abnormal startle reaction and genetic studies remain the diagnostic milestones of familial hyperekplexia.
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PMID:[Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family]. 894 41

We report on eight patients with stiff-man syndrome (SMS) or its "plus" variant, progressive encephalomyelopathy with rigidity and myoclonus (PERM) receiving intrathecal baclofen via pump. In six of the patients, follow-ups continued for approximately 2.5 to 6.5 years after pump implantation. Intrathecal baclofen was an effective last-resort alternative for patients who responded poorly to or did not tolerate oral antispasticity medications. General mobility increased, and spasms and rigidity were reduced; however, no complete remissions were observed either before or after pump implantation. PERM patients showed more severe and rapid progression of symptoms and more attacks of autonomic dysregulation than SMS patients. They also required higher doses and more rapid dosage increases. Complications of intrathecal baclofen therapy included spasm-induced rupture of the catheter, catheter dislocation causing radicular symptoms, and pump malfunction resulting in inaccurate dosage administration. Patients suffered fewer side effects with intrathecal baclofen than with oral medication, but overdose resulted in a transient, comalike state in one patient and sudden dosage reduction due to pump failure was fatal in another.
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PMID:Intrathecal baclofen therapy for stiff-man syndrome and progressive encephalomyelopathy with rigidity and myoclonus. 940 52

EMG can be used for both dystonic muscles selection and performing injections of botulinum toxin. The indications for performing injections under EMG guidance in different forms of movement disorders are discussed. There is no need of EMG control in the treatment of blepharospasm and hemifacial spasm. In cervical dystonia the use of EMG guidance can improve the results of treatment in cases of head tilt, retrocollis, shoulder elevation and in more complex forms of dystonia. The injections should be performed under EMG control in patients with limb, oro-mandibular and laryngeal dystonia and with palatal myoclonus.
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PMID:[Botulinum toxin injections under electromyographic guidance]. 960 57


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