Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 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.
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PMID:Hereditary essential myoclonus in a large Norwegian family. 192 29

To study the demographic and clinical correlates of essential tremor (ET), we analyzed a comprehensive database of 350 patients evaluated at the Movement Disorders Clinic at Baylor College of Medicine from 1982 to 1989. The age at onset of tremor showed bimodal distribution for both male and female patients, with peaks in 2nd and 6th decades. ET appeared most frequently in hands, followed by head, voice, tongue, leg, and trunk. Half of the patients (47%) had associated dystonia, including cervical dystonia, writer's cramp, spasmodic dysphonia, and cranial dystonia, and 20% of the patients had associated parkinsonism. At least one 1st-degree relative of 62.5% of ET patients reported tremor. Alcohol relieved tremor in 2/3 of ET patients. Sixty-eight percent of patients who had adequate follow-up improved with propranolol, and 72% with primidone. There was no significant difference in various clinical variables between the 219 patients with familial ET and 131 with sporadic ET. Patients with early-onset ET were more likely to have hand involvement and associated dystonia than patients with late-onset ET. Dystonia was more frequently associated with mild ET than with severe ET. Patients with low-frequency tremor were older and had more head but less hand involvement than patients with high-frequency tremor. The lack of relevant differences between ET subgroups suggests that, despite variable expression, ET represents a single disease entity.
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PMID:Essential tremor: clinical correlates in 350 patients. 162 Mar 68

Idiopathic spasmodic torticollis is a type of focal dystonia. Major muscles which rotate the neck are M. sternocleidomastoideus (SCM) and M. splenius capitis (Spl) on both sides. In torticollis patients, its clinical characteristics could be understood as a vectorial summing up of tonus in bilateral SCM and Spl at rest. There is not any curative treatment for dystonia yet. A variety of medications and many types of surgical interventions have been tried without consistent or satisfactory results. In recent days local injection of botulinum-A toxin has shown to be effective in weakening focal dystonias. We used pure ethanol for local injection. Fourteen patients aged between 20-77 years (mean 48.9) were treated by alcoholisation. Disease duration ranged from 5 months to 12 years (mean 4.9 years). All had torticollis alone or had segmental dystonia containing spasmodic torticollis. Patients were recorded electromyographically using surface electrodes to make sure which neck muscles were hypertonic, and were rated before and after treatment according to the stages (0; normal-5; most severe). On the bases of these recordings the two most active muscles were selected for injection. Into the motor point of these muscles 1 ml of 1% lidocaine, and then the same dose of 99% ethanol were injected. This procedure was repeated on the mean ten times (6-14 times) every other week. The number of times of injection was decided in each case. Using the paired Student t test, there was a significant (p less than 0.01) improvement of the stage for the patients after injection, with a mean of 3.7 before treatment and 2.3 after treatment.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Local alcoholisation treatment of spasmodic torticollis]. 224 25

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.
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PMID:Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. 225 50

Twenty patients with tongue tremor associated with essential tremor are reported. Patients were unaware of the tongue tremor, and voice disturbance was a complaint in only one patient. Three patients had an isolated tongue tremor. Hand tremor was present in 16 patients. Dystonia, myoclonus, and tremor of other body parts were present in some patients. Three patients had a mild-to-moderate dysarthria. The frequency of tongue tremor (4-8 Hz) was identical to hand tremor. The intravenous infusion of ethanol suppressed tongue tremor. Therapy with propranolol, primidone, or clonazepam also reduced tongue tremor amplitude. Tongue tremor is a common finding in some essential tremor patients but often there are no symptoms.
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PMID:Essential tongue tremor. 350 57

An intravenous infusion of a 250-ml, 10% ethanol solution decreased dystonic scores in five of seven patients with spasmodic torticollis, but had no effect in patients with Meige syndrome, tardive dystonia, or generalized torsion dystonia. Alcohol may temporarily decrease some forms of dystonia.
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PMID:Effect of alcohol on dystonia. 396 14

Patients with focal dystonia take advantage of certain cutaneous or proprioceptive sensory inputs to alleviate their symptoms ("sensory trick"). We examined the effects of increasing muscle spindle activity by the tonic vibration reflex maneuver and decreasing it by intramuscular injection of lidocaine. The vibration was applied to the palm or the tendon of forearm muscles in 15 patients with writer's cramp and 15 age-matched normal subjects. In 11 patients, the vibration induced dystonic postures or movements typical of those seen during writing. Normal subjects showed either no response to the vibration or a gradually developing tonic vibration reflex only in the wrist and finger flexors, which produced visible movements with a significantly longer latency (12.5 +/- 6.7 seconds [mean +/- standard deviation]) than what was observed in the patients (2.7 +/- 2.5 seconds, p < 0.0001). Local injection of lidocaine (0.5%, 5-40 ml/muscle) attenuated the tendon reflex with relatively little effect on the M response. Injection into muscles with increased activity produced marked reduction of dystonic movements and significant clinical improvement in 13 patients, whereas injection into the other muscles had no effect. The clinical benefit lasted for 1 to 24 hours after injection. In 13 patients who had additional injections of 10% ethanol, which blocks sodium channels for a longer period than does lidocaine, the duration of action was prolonged to 5 to 21 days. These findings suggest that muscles causing dystonic movements have abnormal sensitivities to vibration at rest and that muscle afferents may play a pivotal role in producing dystonic movements.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Tonic vibration reflex and muscle afferent block in writer's cramp. 765 62

We examined 678 essential tremor patients in specialty, university, and private practice clinics. The mean age of patients was 65.2 years with a similar number of men and women. Six percent of patients were left-handed. A positive family history of tremor was reported in more than 60% of patients. Alcohol ingestion was reported to decrease tremor in 74% of patients who were cognizant of the effect of alcohol on tremor. Mean age at tremor onset was 45.3 years. An earlier onset of tremor was observed in those patients having a positive family history of tremor. Tremor affected the hands in 90% of patients, head in 50%, voice in 30%, and legs and chin in 15%. Functional disability was common and impairment at work occurred in 18%. Propranolol and primidone were the most frequently used drugs and were effective in 40% of patients. Six and one-tenth percent of essential tremor patients had concomitant Parkinson's disease, 6.9% had a coexisting dystonia, and 1.8% had myoclonus. It is concluded that the frequency of Parkinson's disease in essential tremor is more than would be reported in the general population and that other movement disorders are infrequently observed in essential tremor.
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PMID:The relationship of essential tremor to other movement disorders: report on 678 patients. Essential Tremor Study Group. 821 Feb 29

A 29-year-old man suffered from dystonic writer's cramp for over three years. When he wrote, typed and did other tasks using right hand, dystonic involuntary movement triggered medial rotation of the arm, wrist extension and shoulder elevation. Medication, biofeedback, and botulinum injection were performed without much success. We tried to block the sensory input from muscles by using lidocaine and ethanol. We made injections of 0.5% lidocaine 50ml and 99% ethanol 5ml into muscles with abnormal activity at the frequency of twice a week for about six months. After the treatment, dystonic movement was remarkably improved and he was then able to write, type and perform other tasks with the right hand. Side effects included pain of the injection site, nausea and dizziness, which lasted for a few hours. This "muscle afferent block" did not cause muscle weakness. We speculate that muscle afferent plays a pivotal role in dystonia so that its blocking may be of clinical use.
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PMID:[Muscle afferent block for the treatment of writer's cramp]. 872 Mar 30

Fifty patients with Leber's hereditary optic neuropathy (LHON) with an associated pathogenic mutation of mitochondrial DNA (mtDNA) at base pair (bp) 11778 (35 cases), 14484 (eight cases) or 3460 (seven cases) were matched with 50 controls. The frequency of additional neurological features in LHON and the role of a number of past medical and environmental factors in the development of the disease were investigated using a case-control study. Additional neurological features were reported by 15 patients. Four patients had a multiple sclerosis-like illness; one had focal dystonia. Ten patients had tremor, which occurred at significantly higher frequency in patients than in controls. Alcohol and tobacco consumption were similar in patients with the 11778 mutation and matched controls, but were significantly increased in patients with the 3460 and 14484 mutations. No other associated past medical or environmental factors were identified.
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PMID:A case-control study of Leber's hereditary optic neuropathy. 893 73


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