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)

The propositus (case 1) was a 40 year-old man. He had begun to note unsteady walking at age 26. He was found to have cerebellar ataxia and pyramidal signs in addition to minor features such as progressive external ophthalmoplegia, gaze nystagmus, bulging eyes, intention fasciculation-like movements of facial and lingual muscles, and limb dystonia. These findings were categorized into type II form of the disease. One sister (case 3) aged 37 years, and one brother (case 4) aged 44 years of the propositus had also type II form of the disease. His uncle (case 2) had the same cerebellar and extrapyramidal signs accompanied with peripheral nerve signs such as muscle wasting, weakness, hypo-tonus and decreased deep tendon reflexes, and a diagnosis of type III form of the disease was made. In the T2-weighted magnetic resonance imaging (1.5 T, TR 2000 or 3000 msec, TE 120 msec) of the three patients (case 1, 3 and 4), dorsolateral part of the putamen showed decreased signal intensity. Although hypo-intensity of the putamen is often observed in normal elderly people over 50 years old, it is considered to be abnormal when it exists in relatively young people as in this family members.
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PMID:[A new family of Machado-Joseph disease--an abnormal decrease in signal intensity of the putamen in magnetic resonance imaging]. 224 34

We present 43 patients with reflex sympathetic dystrophy (RSD) who manifested abnormalities of movement. The patients have focal dystonia, weakness, spasms, tremor, difficulty initiating movement, and increased tone and reflexes. These motor signs and symptoms may precede other manifestations of the illness by weeks or months. They most frequently, but not invariably, occur concomitantly with sudomotor or vasomotor changes and pain. Lioresal is effective in reducing spasms. Early in the course of RSD, the motor manifestation may be alleviated by intense sympathetic blockade or sympathectomy. In many patients, the movement disorder becomes independent of sympathetic innervation.
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PMID:The movement disorder of reflex sympathetic dystrophy. 239 45

We followed 205 of 232 patients with medically intractable cervical dystonia for at least 3 months and up to 4 years, during which time they received 1,074 injections in 505 visits. One hundred forty-five of the 205 patients (71%) improved substantially (global rating greater than or equal to 2; from 0 = no response to 4 = marked improvement in severity and function) after 1 or more visits. Of the 89 patients who reported pain, 68 (76%) had almost complete relief of their pain. While most patients noted improvement within the 1st week after injection, some had a latency of up to 8.5 weeks. Duration of maximum benefit lasted up to 12.5 months in some, but the average was 11.2 weeks. Only 58 of 205 (28%) patients, seen in 76 of 505 visits (15% of all visits), had complications, primarily mild dysphagia (35 patients) or neck weakness (17 patients). We conclude that botulinum toxin is a safe and effective therapy for most patients with cervical dystonia.
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PMID:Botulinum toxin injections for cervical dystonia. 230 Feb 49

Of 85 consecutive patients with mitochondrial myopathy, 29 had clinically significant central nervous system involvement. Nine of these had movement disorders that included dystonia, chorea, parkinsonism, and myoclonus. Autopsy studies of one patient with ataxia, dementia, and parkinsonism followed by dystonia showed the features of olivopontocerebellar atrophy with additional degenerative changes in the basal ganglia. Postmortem in a further case with myoclonus, deafness, muscle weakness, retinopathy, and ataxia showed symmetrical mineralisation of the striatopallidodentatal system.
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PMID:Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies. 232 72

Profile and variation of gross motor disability and neural impairments were studied in a series of 30 women, aged 22-44 years, fulfilling the diagnostic criteria for the Rett syndrome (RS). The sequential development of neurological signs and a movement disorder causing immobility in 80% were found. On the basis of acquired and sustained walking ability, the women could be divided into three groups: one comprising those 20% still walking (group III), one those 60% previously walking (group IVA) and the third those 20% who had never developed walking ability (group IVB). Spastic signs, seldom prominent, were found in all the three groups, while dystonic signs were most common in those previously walking, and weakness and wasting in the group that never acquired that skill. Early progressive scoliosis, peroneal weakness and excavated feet, interpreted as lower motor neuron signs mainly due to spinal tract impairment, were most extensive among those never able to walk. Loss of walking was considered a consequence of deranging combinations of weakness and dystonia. The patterns of neuromotor disturbances are discussed in relation to other manifestations of RS.
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PMID:The Rett syndrome: gross motor disability and neural impairment in adults. 234 19

A girl of first cousin parents presented in the 1st year of life with a progressive neurological disease with muscle weakness and hypotonia, accompanied later by dystonia. Investigations, including gas chromatography of urine, showed no abnormality. Autopsy showed marked neuronal loss and gliosis in the putamen and globus pallidus. The activity of glutaryl-CoA dehydrogenase in cultured fibroblasts was normal, but the activity of electron transfer flavoprotein was markedly diminished. Retrospective study of urine by capillary gas chromatography/mass spectrometry showed small amounts of glutaric and other organic acids. This is the first report of striatal degeneration in association with glutaric acidaemia type II. The neuropathological changes were milder than those in glutaric acidaemia type I.
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PMID:Striatal degeneration in glutaric acidaemia type II. 271 49

The effects of botulinum toxin injections have been studied on 19 patients with hand dystonia. The dystonic muscles were identified by clinical examination and EMG findings of localised bursts of muscle activation with fine wire electrodes during the tasks that precipitated the dystonia. Injections into the most active muscles were given to each patient every 2 weeks in increasing doses (up to 20 U the first week, up to 40 U the second week, and up to 80 U the third week) until performance improvement was achieved. Subjective improvement of cramping, pain and/or tension was associated with temporary weakness in injected muscles. Benefit was seen in 16 patients, lasted between 1 and 6 months, and was reproducible.
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PMID:Treatment of focal dystonias of the hand with botulinum toxin injections. 292 21

Simulated gait abnormalities involve weakness of 1 or both legs or ataxia and trembling. The patterns rarely duplicate those of neurologic disability and are usually promptly suspected of being functional by the experienced clinician. As with other pseudoneurologic signs, normal underlying neurologic function must be demonstrated. A dramatic cure is the best diagnostic evidence, and a bias toward organic etiology is warranted by a relatively greater risk in delayed diagnosis. Dystonia and chorea are the signs most likely to be mistaken for functional conditions. While CT and MRI now provide a welcome diagnostic safety net, the variety of hysterical gaits, and probably the effectiveness of "moral" treatment, does not appear to have changed appreciably in the past century.
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PMID:Hysterical gait disorders: 60 cases. 292 86

Spastic dysphonia is a condition producing a strain-strangle phonation. We have previously classified most of these patients as having focal laryngeal dystonia, a disorder of central motor processing. The initial success of recurrent nerve section in many of these patients has been followed by recurrence of symptoms in months to years. Bilateral involvement of the vocal cords with hyperfunction of the nonparalyzed vocal cord could explain these failures. Injection of botulinum toxin (BOTOX) has been effective treatment for many focal dystonias. We have treated more than 100 patients with dystonia including five with laryngeal dystonia. All of the patients laryngeal had dramatic improvement after 48 to 72 hours; benefit lasted 3 to 9 months for each injection period. BOTOX injection can be performed on awake, ambulatory patients. Bilateral treatment and titration of dose can achieve the desired degree of weakness.
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PMID:Localized injections of botulinum toxin for the treatment of focal laryngeal dystonia (spastic dysphonia). 333 31

We studied five patients who received local injections of botulinum toxin for dystonic disorders to determine if there had been any distant effects on neuromuscular transmission. No patient developed weakness or abnormalities on routine electrophysiologic testing. In all patients who received more than 245 U of toxin, SFEMG in the extensor digitorum communis muscle, a muscle distant to all those injected, was abnormal. Fiber density was increased in the two patients who received the largest cumulative dose. Jitter was maximally increased at slow firing rates, confirming its presynaptic basis. Our results reveal that there is an effect on neuromuscular transmission in muscles distant to those injected with botulinum toxin for dystonia.
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PMID:Distant effects of local injection of botulinum toxin. 345 58


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