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)

Haloperidol treatment for stuttering was examined in a double-blind cross-over study of 26 adult volunteers with long-standing stuttering. Most had had unsuccessful speech and drug therapy. During the three-month study, their speech and stuttering patterns were repeatedly evaluated from videotaped readings of a standard passage and during spontaneous speaking. Of the 18 patients completing the trial 11 were significantly more improved on haloperidol than on placebo, three benefited equally from both, and four were unchanged. Improvement over placebo was indicated by fewer dysfluencies, increased speed of speaking, and reduced secondary "struggle" phenomena. Side effects were common on a dosage of 3 mg haloperidol daily. Poor concentration, akathisia and dystonic movements caused 8 patients to discontinue the trial despite significant improvement in 5 of them. Although "statistically significant" improvement occurred in most patients on haloperidol, the "clinical significance" of this form of therapy will be limited by the partial response, the need for continuous medication, the side effects of haloperidol and the attitude of stutters to this type of therapy.
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PMID:Haloperiodl in the treatment of stuttering. 32 82

Two cases of progressive supranuclear palsy (PSP) with palilalia were presented. Case 1: A 64-year-old woman was in good health until age 62 when she noted clumsiness in walking. Subsequently, forgetfulness, abrupt falls and difficulty in swallowing developed. At the age of 63, she tended to repeat same words in conversation. On admission, neurological examination revealed mental deterioration (Hasegawa's scale 19), unsteady emotional state, supranuclear vertical gaze palsy, pseudobulbar palsy, nuchal dystonia, pyramidal tract signs and extrapyramidal signs. Although spontaneous speech production was reduced, she could answer to questions with compulsive repetition of a phrase or word. She always repeated twice or three times without stuttering, logoclonus or "palilalie aphone". Case 2: A 68-year-old, right-handed woman noted double vision since about one year ago. Subsequently, she developed slowness of voluntary movement, forgetfulness and difficulty in walking. Neurological examination showed similar signs as Case 1. She was not palilaic on examination, however we found the description of her palilalia on nurse's working records. Palilalia was not present so constantly as Case 1, but continued for about a year. We suppose that palilalia is not a rare phenomenon in PSP. Although the pathogenesis of palilalia is unknown at present, we speculate the combination of extrapyramidal sign, pseudobulbar palsy and dementia may most contribute the pathogenesis of palilalia on PSP.
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PMID:[Palilalia associated with progressive supranuclear palsy]. 267 8

Delayed neurological deterioration following anoxia is known to result from carbon monoxide exposure. However, it may also occur with anoxia of other types as well. The present report describes a case of delayed postanoxic encephalopathy with bilateral striatal lesions demonstrated by magnetic resonance imaging. A 27-year-old man exhibited anoxic anoxia caused by upper airway obstruction following general anesthesia for shoulder fracture surgery. Initially he was delirious and markedly excited for one day and became apparently normal for the following three days. Then he relapsed into delayed neurological deterioration with speech and gait disturbance, clumsiness of hand, pyramidal signs and metamorphopsia. Thereafter, he became bed-ridden and fell into semicomatose state with marked motor restlessness, involuntary movement of the tongue and decorticate posture. Twenty-five days later he had a second recovery period after hyperbaric oxygenation that lead to the sequelae with speech and motor disturbances and mild mental changes. I examined the present case as an expert witness in a civil suit eleven years after initial anoxia. The patient showed slight intellectual impairment and personality change. Impairment in figure-ground differentiation and disorders of spatial thought were also observed. Neurological examination revealed anisocoria, dysarthria with acquired stuttering, disturbances of fractionated movement of fingers, writer's cramp and Babinski's sign bilaterally. Postural dystonia of both hands and fingers, rigidity and spasticity of all extremities were also present. Magnetic resonance imaging (MRI) showed bilateral lesions of the corpus striatum, especially of the putamen. Some portion of the caudate nucleus was also involved. Cerebral cortices and white matter were slightly atrophic. From the above clinical course and neurological findings, we diagnosed the present case as delayed postanoxic encephalopathy. Ginsberg (1979) noted that in cases of anoxia not related to carbon monoxide, diffuse demyelinative changes of cerebral hemispheral white matter tended to be associated with relapsing clinical course, and gray matter injury was only seen in a few cases. MRI findings in the present case suggest that main site of the lesion to be in gray matter of the corpus striatum. In this respect, the present case is considered to be noteworthy.
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PMID:[A case of delayed postanoxic encephalopathy with bilateral lesions of the corpus striatum]. 281 6

Spastic dysphonia is a clinical speech disorder characterized by spasms of the laryngeal muscles during phonation, producing a broken pattern of speech sometimes termed laryngeal stuttering. Fourteen patients with the diagnosis of spastic dysphonia based on voice quality were referred for evaluation; detailed clinical and electrophysiologic evaluations were performed. Laryngeal electromyographic (EMG) testing failed to demonstrate any spontaneous activity in the 14 patients tested. Seven patients (50%) had normal number and amplitude of motor unit potentials. Four of these had disparate amplitudes when compared with the other side, and two had complex motor unit potentials. The other seven patients (50%) had abnormal findings, including three patients with abnormally increased amplitude. Two patients had asynchronous activity characteristic of a tremor disorder. One patient had synchronous bursts of activity also affecting the diaphragm, later diagnosed as pyramidal and extrapyramidal disease. One patient had bursts of activity, and later presented with diffuse myoclonus. Laryngeal EMG therefore seemed to be a more precise way of evaluating patients presenting with a tremulous voice pattern termed spastic dysphonia. Clinical observation and EMG data demonstrated that spastic dysphonia is not a "spastic" disease. We identified patients with tremor (2), pyramidal and extrapyramidal disease (1), and myoclonic disorders (1). The remainder of the patients had clinical and EMG findings consistent with dystonia, a neurologic disorder characterized by abnormal, often action-induced, involuntary movements or uncontrolled spasms. We classify these patients as having "focal laryngeal dystonia" when the disorder occurs in isolation. It may also present as a component of a generalized dystonic syndrome.
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PMID:Electromyographic findings in focal laryngeal dystonia (spastic dysphonia). 407 37

Stuttering is an action-induced speech disorder with involuntary, audible, or silent repetitions or prolongations in the utterance of short speech elements (sounds, syllables) and words. Symptomatic treatment programs frequently have initial success; persistent benefit is variable and many patients remain disabled. Stuttering has many characteristics similar to spasmodic dysphonia (laryngeal dystonia), often including the presence of adductor laryngeal spasms that obstruct airflow (glottal block). We hypothesized that relief of the spasmodic dysphonic glottal blocks in stutterers would modify the stuttering phenomenon and increase fluency. We therefore studied the effects of bilateral vocal fold injections of botulinum toxin type A (BTX) on dysfluency and speech characteristics in stuttering. We treated 14 adult patients (12 men, 2 women) with persistent stuttering and glottal block who previously failed standard speech therapy with 1.25 U BTX into each thyroarytenoid (vocalis) muscle. Fluency evaluations included the Stuttering Severity Instrument, the Perceptions of Stuttering Inventory, and a global rating scale (percent of normal function). Patients were evaluated at baseline and at 2-, 6-, and 12-week follow-up visits. Improvement in fluency documented by each rating instrument occurred at 2 and 6 weeks, with functional relapse by 12 weeks in most patients. We conclude that therapeutic laryngeal injections of botulinum toxin are useful in the management of stuttering with glottal block and result in a moderate improvement in fluency. When an adult patient with developmental stuttering with glottal blocks has failed speech interventional therapy and presents for treatment, a trial of BTX can be considered early.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Laryngeal botulinum toxin injections for disabling stuttering in adults. 799 Nov 10

Clinical and biochemical findings in a patient affected by chronic GM1 gangliosidosis, presenting as progressive dystonia and mental deterioration, are reported. The patient, a 13-year-old male, showed, at the age of 3 years, an impairment of gait with frequent falls, dysarthria and stuttering. At the age of 6, writing dystonia appeared and subsequently mental deterioration and dystonic postures of arms and legs became evident. The clinical features presented by this patient are similar to those shown by the cases of adult/chronic GM1 gangliosidosis previously reported, except for the early onset. This observation emphasizes the occurrence of dystonia as prominent symptom in chronic GM1 gangliosidosis, underlining that this disease must be considered in the diagnostic approach to the progressive dystonias of the early infancy.
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PMID:Chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies in a new case. 835 22

We observed abnormal involuntary movements, involving principally the facial and neck muscles, in 23 patients with stuttering. These movements were similar to involuntary movements seen in distinct dystonic syndromes. There was a history of stuttering in the first degree relatives of six patients. The association of stuttering with degenerative neurologic disorders and focal brain lesions, cerebral blood flow changes in patients with developmental stuttering, its occurrence as a side effect of centrally acting drugs, induction and alleviation of stuttering by mechanical perturbation, or by electrical stimulation of the thalamus, a strong genetic predisposition with male preponderance, and the statistically significant occurrence of stuttering in the family history of patients with idiopathic torsion dystonia suggest an organic basis for developmental stuttering. These findings and the reported similarities between the involuntary movements associated with stuttering and dystonic involuntary movements support the hypothesis that stuttering is a form of segmental or focal action dystonia.
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PMID:Stuttering may be a type of action dystonia. 872 45

Adduction spastic dystonia (SD) is currently considered a focal dystonia involving laryngeal muscles. SD is one of the most poorly known focal dystonias. We reviewed our experience with twentynine patients with adduction SD and compared the clinical and epidemiologic variables with the other focal dystonias studied at our institution in the last five years (132 patients). Mean age of patients (47.2 +/- 13 years), sex, clinical course in years (5.7 +/- 5) and presence of circadian fluctuations did not differ significantly from those observed in patients with other focal dystonias. Likewise, there were no significant differences regarding the presence of a family history of dystonia, essential tremor, or stuttering. Our results confirm the similarity of the clinical and epidemiologic data of SD with the other focal dystonias. All patients with SD were treated with a local injection of botulinum toxin. A total of 108 treatments were performed, 41 with a visually guided transoral technique and 67 with a percutaneous technique. The transoral technique was effective in all cases (41/41) but not all treatments with the percutaneous technique were effective (53/67). Three patients required the shift to the transoral procedure to achieve enough symptomatic alleviation.
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PMID:[Adduction spastic dysphonia: clinical and treatment]. 958 38

The role of botulinum toxin as a therapeutic agent is expanding rapidly in otolaryngology. Botulinum toxin is a protease that blocks the release of acetylcholine from nerve terminals. Its effects are transient and nondestructive, and largely limited to the area in which it is administered. These effects are also graded according to dose, allowing for individualized treatment of patients and disorders. Botulinum toxin has been used primarily to treat disorders of excessive or inappropriate muscle contraction. In the field of otolaryngology, these include spasmodic dysphonia, oromandibular dystonia, and blepharospasm; vocal tics and stuttering; cricopharyngeal achalasia; various tremors and tics; hemifacial spasm; temporomandibular joint disorders; and a number of cosmetic applications. Botulinum toxin treatment has recently begun to show some benefit in the control of pain from migraine and tension headache. It may also prove useful in the control of autonomic dysfunction, as in Frey syndrome, sialorrhea, and rhinorrhea. In over 20 years of use in humans, botulinum toxin has accumulated a considerable safety record, and in many cases represents relief for thousands of patients unaided by other therapy.
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PMID:Botulinum toxin: basic science and clinical uses in otolaryngology. 1121 Aug 64

A few patients with an affected CNS involving abnormalities in copper metabolism have been described that do not fit any known nosological entities such as Wilson's disease or Menkes' disease. Three sporadic patients (two men and one woman) were examined with involuntary movements and dysarthria associated with abnormal concentrations of serum copper, serum ceruloplasmin, and urinary copper excretion. The onset of neurological symptoms occurred at the age of 15 to 17 years. The common clinical symptoms were involuntary movements and dysarthria. The involuntary movements included dystonia in the neck, myoclonus in the shoulder, athetosis in the neck, and rapid orobuccal movements. The dysarthria consisted of unclear, slow, and stuttering speech. Two of the three patients did not have dementia. A cousin of the female patient had been diagnosed as having Wilson's disease and had died of liver cirrhosis. Laboratory findings showed a mild reduction in serum copper and ceruloplasmin concentrations, whereas urinary copper excretion was significantly reduced in all three patients. Two of the three patients showed a high signal intensity in the basal ganglia on T2 weighted brain MRI. In conclusion, the unique findings of involuntary movements, dysarthria, and abnormal serum copper and urinary copper concentrations suggest that the three patients may constitute a new clinical entity that is distinct from either Wilson's or Menkes disease.
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PMID:A new neurological entity manifesting as involuntary movements and dysarthria with possible abnormal copper metabolism. 1172 1


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