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)

We examined 56 members of a large Norwegian family with hereditary essential myoclonus, affecting mainly the neck and upper parts of the body, and inherited in an autosomal-dominant pattern. We observed definite myoclonus in nine individuals, probable myoclonus in one, and possible myoclonus in one. There were two other living members who had a history compatible with myoclonus but who had developed a permanent remission, so we did not observe the movements, and two who had involuntary movements only with stress. Writing usually increased the myoclonus in the neck and trunk, but did not produce myoclonus in the arm used for writing. Having a conversation with an individual who was aware of being watched would also usually increase the myoclonus. Alcohol ameliorated the myoclonus in many, but not all, affected members. Activities such as walking and concentrating during reading would usually reduce the myoclonus. Three living members with definite myoclonus also had features of mild focal dystonia, either spasmodic torticollis or blepharospasm, indicating that focal dystonia may exist as part of the clinical spectrum in hereditary essential myoclonus. In addition to examining the members of the family, we videotaped them and obtained blood samples for molecular genetic analysis.
 ...
PMID:Hereditary essential myoclonus in a large Norwegian family. 192 29

Alcohol-responsive myoclonic dystonia is reported in 26 individuals in a six-generation family, thus indicating autosomal dominant inheritance. Twenty affected family members aged between 3 and 56 years were examined on one occasion. Myoclonus in arms, shoulder, and neck distribution was seen in 17, with occasional generalized jerks in 14. Leg dystonia/hemidystonia was seen in two infant cases, writer's cramp in seven, torticollis/retrocollis in two, and finger tremor in three. The onset of myoclonus was regularly reported from 2 to 3 years of age, the onset of leg dystonia/hemidystonia from 6 to 18 months of age, writer's cramp from early school age, and neck dystonia from late teenage. The effect of alcohol had been noted in 10 individuals, and seven of them abused alcohol. Once established, the neurological signs did not progress significantly. Leg dystonia resolved in two juvenile members. Two adult members had recovered from myoclonus: one elderly man and one posthemorrhagic spastic hemiplegic man. Extensive family investigation is necessary to clarify the clinical variation of this autosomal dominant disorder of involuntary movements.
 ...
PMID:Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. 225 50

The clinical efficacy of the trihexyphenidyl was investigated in 100 patients with movement disorders. The study group consisted of 54 women and 46 men. Their ages ranged from 18 to 70 years, and their duration of illness varied from a few months to 36 years. Each patient had a videotape of the movements and a neurological examination, before administration of the drug, at the time of maximum or effective dosage, and one week after withdrawal from trihexyphenidyl. The drug was administered at an initial total daily dose of 2 mg and gradually increased to a total daily dose of 60 mg over a period of 4-6 weeks. Improvements were rated both clinically and from the videotapes. Three groups of movement disorders demonstrated a significant response to trihexyphenidyl: (1) dystonia 37%; tonic torticollis demonstrated a significantly better response than the clonic variant (80% vs. 22%). (2) rhythmic-oscillatory movements of brainstem-cerebellar origin (palatal myoclonus, pendular nystagmus, facial myokymia) 90%; (3) cerebellar tremor 75%. Among 32 responders, 17 (56%) continued taking trihexyphenidyl beyond 24 months. Side effects consisted of dryness of the mouth, jitteriness, stomatitis, blurred vision, and forgetfulness.
 ...
PMID:Treatment of movement disorders with trihexyphenidyl. 277 91

In this review, the authors present a critical overview of the historical development, indications, complications, operative techniques, and results of procedures for the alleviation of the major dyskinesias. Emphasis is placed upon recent refinement of technique, particularly stereotaxis, as well as neurophysiologic stimulation and recording, computerized tomographic scanning (CT) and magnetic resonance imaging (MRI). Specific disorders that may be amenable to surgical therapy include spasticity secondary to spinal cord pathology, cerebral palsy, and multiple sclerosis; the tremor and rigidity of Parkinson's disease; essential tremor; dystonia; spasmodic torticollis; post-traumatic and postinfarction intention tremor; cerebral palsy with tremor; hemiballismus; myoclonus; and dyskinesias induced by L-DOPA.
 ...
PMID:Neurosurgical management of spasticity, rigidity, and tremor. 332 80

Local injections of botulinum toxin is a well-accepted treatment for focal dystonias, hemifacial spasms and strabismus. Its use by skilled neurologists has been reported to be safe and effective. We report our experience with botulinum toxin injections in 108 patients with various central nervous system disorders. Botox was effective in upper face dystonia (86% improvement), spastic dysphonia (92% improvement), platysma muscle spasms and spasmodic torticollis (range of movement 61%, pain and tension 90%). It was also very effective in a few patients with apraxia of eyelid opening, parkinsonian jaw tremor, teeth clenching, palatal myoclonus and adductor leg spasticity. No serious side effects were recorded. Botulinum toxin is a useful symptomatic treatment for many neurological disorders, and one of the leading mode of treatments in the new subspecialty in neurology called "Interventional neurology."
 ...
PMID:Interventional neurology: botulinum toxin as a potent symptomatic treatment in neurology. 798 70

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.
 ...
PMID:Effectiveness of botulinum toxin type A against painful limb myoclonus of spinal cord origin. 819 91

Three siblings of a consanguineous parents with involuntary movements are reported. The mother had only a very slight neck tremor, without any other neurological abnormality, and the father had died. The 38-year-old son (Case 1) complained of involuntary movements at the age of 6. His involuntary movements were observed in the tongue, perioral region and upper and lower extremities: jerky movements with dystonic features. The 46-year-old elder brother (Case 2) experienced involuntary movements at the age of 18. Involuntary movements were observed in the upper extremities; he also had torticollis and tremulous movements in the neck, and jerky movements in the perioral region. They showed gait disturbance and dysarthria. The 35-year-old sister (Case 3) also experienced involuntary movements. When she was writing, her involuntary movements were obvious: dystonia and myoclonic jerks. Tremor in the neck was also seen. Their intelligence was below average. We concluded that this family had hereditary torsion dystonia, with myoclonus, and low intelligence. This condition may be associated with an autosomal recessive gene.
 ...
PMID:Hereditary non-progressive torsion dystonia with intellectual disturbance. 858 May 54

The dystonias are a common clinically and genetically heterogeneous group of movement disorders. More than ten loci for inherited forms of dystonia have been mapped, but only three mutated genes have been identified so far. These are DYT1, encoding torsin A and mutant in the early-onset generalized form, GCH1 (formerly known as DYT5), encoding GTP-cyclohydrolase I and mutant in dominant dopa-responsive dystonia, and TH, encoding tyrosine hydroxylase and mutant in the recessive form of the disease. Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles. Dystonia, usually torticollis and/or writer's cramp, occurs in most but not all affected patients and may occasionally be the only symptom of the disease. In addition, patients often show prominent psychiatric abnormalities, including panic attacks and obsessive-compulsive behavior. In most MDS families, the disease is linked to a locus on chromosome 7q21 (refs. 11-13). Using a positional cloning approach, we have identified five different heterozygous loss-of-function mutations in the gene for epsilon-sarcoglycan (SGCE), which we mapped to a refined critical region of about 3.2 Mb. SGCE is expressed in all brain regions examined. Pedigree analysis shows a marked difference in penetrance depending on the parental origin of the disease allele. This is indicative of a maternal imprinting mechanism, which has been demonstrated in the mouse epsilon-sarcoglycan gene.
 ...
PMID:Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. 1152 94

A 43-year-old man was admitted to our hospital due to unstable walking, head tilting to the left and difficulty in extending his arm. He was quite healthy until the age of 20 years, when these symptoms appeared and progressed slowly afterward. Due to his unstable walking, he started to use a wheelchair when he was 39 years old. He had no family history of similar disease. On admission, neurological examination revealed spasmodic torticollis, ataxic speech and marked limb and truncal ataxia. Myoclonic jerky flexion of the forearm was induced when he raised and extended his forearm. He also showed mild hyperreflexia in the lower limbs without pathological reflexes. He had weakness and atrophy of the left supraspinatus, infraspinatus, deltoid and biceps brachii muscles and mild superficial sensory impairment in the left axillary nerve territory due to cervical spondylotic radiculopathy of the left C5 root. MRI of the brain demonstrated severe bilateral atrophy of the cerebellar hemispheres and vermis but minimal atrophy of the cerebrum and brainstem. Because surface electromyography revealed continuous discharge with phasic components in the biceps and wrist flexor muscles on extending the upper limbs, the jerky flexion movement of the forearm was considered to be primarily dystonia. Although no giant SEP was observed, a C-response was detected in the long-loop reflex in response to right median nerve stimulation. Nuclear examinations showed diffuse hypoperfusion and decreased glucose metabolism in the cerebellum. Based on these findings, we hypothesized that cerebellar dysfunction may have induced severe dystonic movement resembling myoclonus. We would like to name this complicated involuntary movement an "arm thrust". This is the first case to be reported of sporadic, chronic, progressive cerebellar ataxia accompanied by severe dystonic movement, especially on stretching the forearms, that mimics myoclonic movement.
 ...
PMID:[A case of cerebellar ataxia showing severe dystonia masquerading as myoclonic jerky movements on arm extension]. 1235 58

Botulinum toxin has been a useful treatment in many movement disorders and more recently in other non-neurological motor dysfunctions for more than 15 years. Here, we review the various indications in neurology, mainly in the field of movement disorders. From 1973 to 2002, we searched the Medline database on this topic. We selected the most useful and relevant papers, with a special interest in dystonia. We summarized the results in the main indications (spasmodic torticollis, bleparospasm, hemifacial spasm) and in other manifestations such as writer's cramp, oromandibular dystonia, tremor, tics and myoclonus. We discuss the data of literature and compare them with the experience of the French movement disorders groups.
 ...
PMID:[Movement disorders and botulinum toxin in neurology]. 1292 35


1 2 Next >>