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)

Adult-onset focal dystonias (AFD) are common disorders that are often misdiagnosed and incorrectly treated. Their presentation is readily recognized, and botulinum toxin has become the agent of choice for treating these disorders. Most of the focal dystonias include cervical dystonia, blepharospasm, oromandibular dystonia, spasmodic dysphonia, and limb dystonia, specifically writer's cramp. Their onset is either idiopathic, familial, or post-traumatic, and the pathophysiology of the focal dystonias is not currently known. Local injections of botulinum toxin into the affected area result in chemical denervation of the muscle, resulting in a weakness of the muscles that are involved in the sustained contractions. This weakness alleviates the painful contraction of the dystonia. In this paper we present a case study of the most common type of focal dystonia, cervical dystonia. The etiology in this case was post-traumatic, and significant improvement resulted after treatment with botulinum toxin type A.
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PMID:Adult-onset focal dystonias: presentation and treatment options. 899 56

Heat-induced lesions in miners are characterized by syndrome of vegetovascular dysfunction presenting with a damage to the segmental and suprasegmental structures of the vegetative nervous system, worsening of the bodily heat status, decrement of physical performance. A distinguishing feature of vegetovascular dystonia in acute overheating is activation of sympathicus, while in chronic one that of parasympathicus. By patterns of function disorders and degree of their restoration acute overheating can be categorized into the following forms-mild, moderately severe and severe ones. In chronic overheating distinct syndromes are recognized depending upon the particular course of vegetovascular dysfunction, viz., permanent course vegetovascular dystonia, permanent paroxysmal one presenting with varying trend vegetative crises, apparent persistent bradycardia and syndrome of weakness of sinoatrial node. Acute overheating is more commonly seen in those miners with as yet little service duration while chronic overheating occurs more frequently in those persons with more than 8-year record of service in conditions of heating microclimate.
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PMID:[The clinical manifestations of heat-induced lesions in miners in the deep coal mines of the Donets Basin]. 900 80

Over a 5-year period, 40 patients, 11 with musician's and 29 with writer's cramp, were treated with botulinum toxin A using a precise injection technique in which the hollow-bore electromyography (EMG) needle was positioned by both standard EMG and by muscle twitch evoked by stimulating current passed through it. Moderate to complete improvement in dystonia occurred in 28 patients (70%) after the first injection and in 34 patients (85%) after the second injection with better outcome in nonmusicians than in musicians. Of note, weakness of uninjected muscles, immediately adjacent to those injected, was found in 25/40 patients (63%). The most common patterns of toxin spread were from flexor digitorum sublimis to profundus, extensor carpi radialis to extensor digitorum communis, and extensor indicis proprius to extensor pollicis brevis. Spread to, and weakness of, adjacent uninjected muscles was a major factor contributing to suboptimal outcome in 6/39 (15%) such patients.
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PMID:Treatment of occupational cramp with botulinum toxin: diffusion of toxin to adjacent noninjected muscles. 914 Mar 66

This article reviewed the anatomic issues of respiration and the active and passive mechanics of the thorax as related to dysfunctional breathing. Influences from respiratory dysfunction on forward head posture and temporomandibular dysfunction were offered. Discussion of inspiratory and expiratory muscle responsibilities, effects of diaphragmatic dystonia and abdominal weakness, and results of improper coordination and timing of respiratory muscle should all give the dentist and physical therapist an appreciation of the need for careful observation and appropriate treatment with the patient experiencing TMD and dysfunctional respiratory mechanics. Summaries of hyperinflation relationships and treatment considerations should help in the management of TMD.
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PMID:Influences of dysfunctional respiratory mechanics on orofacial pain. 914 80

We studied the clinical features and molecular genetics of a family, afflicted with a form of atypical parkinsonism, originating from the Madeira Islands of Portugal. We examined four affected individuals and reviewed clinical information on one other affected family member. Mean age at onset was 31 years. Parkinsonism (akinesia, rigidity, gait disturbance) was the most prominent feature in advanced disease. Levodopa responsiveness with peak-dose dyskinesia was present in one individual. Initial symptoms and other clinical features were variable and included other extrapyramidal signs (dystonia, action tremor of the limbs and bulbar muscles, synkinesis), ophthalmologic abnormalities (ptosis, slow saccades, progressive external ophthalmoplegia, hypometric saccades, saccadic pursuit movements), speech abnormalities (dysarthria, hypernasality), cortical impairment (dementia, frontal lobe dysfunction, palilalia, perseveration), minor cerebellar signs (dysmetria, gait ataxia), pyramidal abnormalities (spasticity, hyperreflexia), and peripheral nervous system abnormalities (propioceptive loss, areflexia, distal weakness, atrophy). The length of trinucleotide repeats in the MJD1 gene was in the normal range for all affected individuals.
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PMID:Atypical parkinsonism in a family of Portuguese ancestry: absence of CAG repeat expansion in the MJD1 gene. 915 59

Some of the most common diseases in humans occur intermittently in people who are otherwise healthy and active. Such disorders include migraine headache, epilepsy, and cardiac arrhythmias. Because electrical signals are critical to the function of neurons, muscle cells, and heart cells, proteins that regulate electrical signaling in these cells are logical sites where abnormalities might lead to disease. All of these diseases have prominent genetic components. Difficulty in understanding these diseases arises from the complexity of the clinical phenotypes as well as from the genetic heterogeneity that is almost certain to exist. Therefore, early work in may laboratory was aimed at understanding the pathogenesis of rare disorders that are similar in their episodic nature. These disorders of muscle (the periodic paralyses), lead to attacks of weakness that occur intermittently in otherwise normal people. We, and others, have shown that hyperkalemic periodic paralysis (hyperKPP) and paramyotonia congenita (PC) result from mutations in a gene encoding a skeletal muscle sodium channel. We have also shown that hypokalemic periodic paralysis (hypoKPP) is caused by mutations in a gene encoding a voltage-gated calcium channel. The characterization of these diseases as channelopathies has served as a paradigm for other episodic disorders. One example is periodic ataxia, which results from mutations in voltage-gated potassium calcium channels. Long QT syndrome, an episodic cardiac dysrhythmia syndrome, is known to result from mutations in either voltage-gated sodium or potassium channels. We have recently mapped genes that cause a familial paroxysmal dyskinesia (non-kinesiogenic paroxysmal dystonia/choreoathetosis) in humans and a reflex epilepsy in mice. The similarities among all these disorders, including their episodic nature, precipitating factors, and therapeutic responses, are striking. Understanding gained from work in these rare monogenic episodic disorders is not only allowing characterization of the molecular and physiologic basis of these diseases, but may ultimately shed light on our understanding of the pathophysiology of more common and genetically complex disorders of the central nervous system.
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PMID:Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. 919 7

We studied the effects of intrathecal baclofen upon voluntary movements. Eleven patients with spasticity of different etiology and one patient with idiopathic dystonia were studied. Six patients participated in a double-blind trial. Kinematic/dynamic and electromyographic (EMG) patterns were recorded during attempts at single-joint elbow or ankle voluntary movements and isometric contractions. Reflex responses were also recorded. Baclofen suppressed spastic signs in 10 patients: it eliminated clonus and decreased the co-contraction of antagonist and distant muscle groups. Baclofen could induce weakness, particularly in patients with cerebral palsy (CP). Patients with hemi-syndromes did not notice any effects of baclofen in their 'unaffected' limbs. Intrathecal baclofen could improve voluntary movements in some patients with spasticity resulting in better walking and usage of arms. We hypothesize that spasticity induces an adaptive reaction at a segmental level that includes an increase in the number and/or affinity of GABA-sensitive receptors.
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PMID:Changes in voluntary motor control induced by intrathecal baclofen in patients with spasticity of different etiology. 923 40

Botulinum toxins, exotoxins of Clostridium botulinum, are the most toxic naturally occurring substances known to man. For more than a century they are known to be the cause of botulism, a nowadays rare intoxication with spoiled food that leads to generalized flaccid weakness of striated muscle including pharyngeal and respiratory musculature. The toxins act primarily at peripheral cholinergic motor nerve endings by blocking the release of the neurotransmitter acetylcholine. As a consequence, action potentials in the motor nerve can no longer be transmitted to the muscle. This lack in transmission, clinically appearing as weakness, may disable or actually critically endanger affected patients. However, in certain neurological diseases characterized by an abnormal increase in muscle tone or activity, for example dystonia or spasticity, a reduction in signal transmission may actually be beneficial. Around 1980 local injections of minute amounts (in the order of 0.5 ng) of Botulinum toxin type A were first successfully used in a neurological disorder named blepharospasm which is characterized by an involuntary squinting of the eyes. Since then Botulinum toxin has developed rapidly from a frightful poison to a safe therapeutic agent with a remarkable beneficial impact on the quality of life of many thousands of patients worldwide. This review tries to outline in brief the characteristics of Botulinum toxins, their mechanism of action and the various indications for clinical use as a therapeutic agent.
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PMID:Botulinum toxin: from poison to remedy. 933 23

The authors report the use of high-dose botulinum toxin A for muscle relaxation prior to surgery for cervical spine fixation in two patients with dystonic cerebral palsy that included severe cervical dystonia. Both patients had recently developed progressive cervical myelopathy and surgery was planned to halt the insidious progressive weakness. However, marked dystonic posturing of the neck would have compromised their tolerance of halo fixation and subsequently impeded postoperative fusion. Preoperative chemodenervation of selected cervical muscles with injections of high-dose botulinum toxin A eliminated all involuntary neck movements, permitting the patients to tolerate halo fixation and facilitating postoperative spinal fusion. It is concluded that botulinum toxin A can be used safely and effectively in the preoperative management of patients with cervical dystonia and cervical spondylitic myelopathy.
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PMID:Preoperative treatment with botulinum toxin to facilitate cervical fusion in dystonic cerebral palsy. Report of two cases. 945 45

We report a 67-year-old hypertensive right-handed woman who developed severe pain and dystonia in her left upper and lower extremity after a thalamic infarction. She was well until 9 months prior to the present admission to our hospital, when she had an acute onset of left hemiparesis which turned out to have been caused by a thalamic infarct. Her hemiparesis showed nearly complete recovery during the next four months. She noted an onset of severe spontaneous pain and difficulty in using her left hand four months prior to the present admission. Neurologic examination on admission revealed an alert and well oriented Japanese woman. Cranial nerves were intact. Although she did not have weakness, her left hand showed thalamic posture, and upon standing, she showed a dystonic posture in which her left forearm took pronation and flexion at the elbow joint and her left lower extremity took extension in the knee joint and planter flexion in the ankle joint. Her dystonic posture increased during walking and disappeared in the supine position. She complained of severe spontaneous pain and tingling sensation in her left extremities. Position sense was diminished in her left leg. However other sensations were intact. She had slight ataxia on the left side. Deep tendon reflexes were symmetric, but the planter response was extensor on the left side. MRI revealed a small lacunar infarct involving the right posterolateral thalamic region. EMG with surface electrodes revealed non-reciprocal tonic discharges in the left biceps brachii and forearm flexor and extensor muscles. She responded poorly to various medications. Only trihexyphenidyl showed partial alleviation of her pain and dystonic posture. We thought her pain might be caused by dystonic contraction of the skeletal muscles, at least in part. We injected 25 IU of botulinus toxin as a total dose into her biceps brachii, triceps brachii, and wrist flexor muscles. A few days after the injection, her dystonic posture began to show marked improvement; as her dystonia improved, her pain also showed marked improvement. This patient appeared to represent a case of post-hemiplegic dystonia. Her pain was initially thought to be the thalamic pain. However, as her pain disappeared with improvement of her dystonia, her pain is most likely to have been caused by the dystonic muscle contraction. Botulinus toxin treatment appears to be useful for post-hemiplegic painful dystonia.
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PMID:[A case of post-hemiplegic painful dystonia following thalamic infarction with good response to botulinus toxin]. 949 Aug 97


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