Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 55-year-old female with progressed dementia, cerebellar ataxia was reported. There was no family history of the same symptoms although her brothers, sisters and a son showed hypoceruloplasminemia and decrease of the serum copper content. On physical examination, anemia, dementia, dysarthria, torticollis, choreic involuntary movement of respiratory muscles, hyperreflexia in extremities and cerebellar ataxia were noted. Blood analysis revealed microcytic hypochromic anemia, diabetes mellitus, decrease of copper content of the serum and urine. Serum ferritin concentration was increased. Serum ceruloplasmin could not be detected. Biopsy of the liver showed that copper content in the liver was slightly increased and iron content was remarkably increased. On MRI study, dentate nucleus of the cerebellum, the thalamus, the putamen and the caudate nucleus and the liver showed low intensity in both T1 and T2 weighted images. Based on increased iron content in the liver, the radiological findings of the brain suggested deposition of iron in the brain. This deposition was considered as caused by deficiency of function of ceruloplasmin as ferroxidase. This disorder is suggested as a new disease due to ceruloplasmin deficiency different from Wilson's disease.
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PMID:[A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain]. 145 25

The vast majority of the patients with dystonia have obscure causes. We present 2 cases of neuronal heterotopia in the basal ganglia, who developed contralateral hemi-dystonia and other nervous system abnormalities in early childhood. The first case was a premature female infant who developed involuntary twist movements of the left arm, persistent plantar flexion and eversion of the left foot at age of 7 months. All of the symptoms disappeared during sleep. Delayed motor milestones were also noted. She was still not able to stand or sit steadily at the age of 17 months. The CT scan of brain revealed a nodular lesion at the margin of right lateral ventricle, which was not enhanced by contrast medium suggesting neuronal heterotopia. Besides, smooth cortical surface, poorly recognizable cortical sulci, agenesis of corpus callosum and dilatation of lateral ventricles were also noted. The second case was a 21-year-old man with involuntary movements of left side body and limbs since his early childhood. He had persistent twist and intermittent jerky movements of the left limbs and torticollis. The patient also showed dysarthria and mild mental retardation. The CT scan of brain showed a heterotopic nodule at the margin of right lateral ventricle. The 2 cases reported here suggest that the early onset of hemi-dystonia with multiple nervous system disorders and the abnormal neuronal migration in human embryonic stage are related.
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PMID:[Neuronal heterotopia with hemidystonia]. 279 66

The results of stereotaxic thalamotomy in 55 cases of dystonia are presented. The 16 cases with generalized dystonia were of varied pathogenesis, only 7 being typical of the idiopathic form of adolescent onset. Four of the 16 cases benefited considerably, but the others showed little or no lasting improvement. These results are in contrast to those obtained by Cooper (1976). Of the 27 cases with segmental or focal dystonia, 22 had spasmodic torticollis; 16 of these had bilateral thalamotomies, and 62 per cent were much improved. The incidence of operative complications, in particular dysarthria, was high following bilateral lesions. The incidence of hemiparesis, known to have persisted for more than a year, was 15 per cent. This complication was as frequent in those with unilateral as with bilateral thalamotomies. The incidence of dysarthria in those without preoperative bulbar dystonia was much higher in those who had bilateral lesions (56 per cent) as compared with those who had unilateral lesions (11 per cent). The group that has been identified as benefiting greatly from stereotaxic surgery comprises those with hemidystonia following unilateral brain damage. In these patients, symptomatic improvement in abnormal movement is striking and the incidence of operative side effects from unilateral lesions is low.
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PMID:Stereotaxic thalamotomy in 55 cases of dystonia. 636 Mar 6

Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism. The corresponding gene locus has been localized on the long arm of chromosome 13. Three different clinical variants of the disease can be distinguished: hepato-cerebral, abdominal/hepatic, and central nervous type. The heterogeneity of symptoms can cause problems in differential diagnosis, especially when another concordant disorder can also explain the pathogenesis of symptoms. The case report of a young man who suffered from brainstem contusion demonstrates the possibilities of misinterpretation because presenting symptoms could be attributed either to traumatic brain injury followed by adjustment disorder or Wilson's disease. Clinical signs included leftsided hemiparesis, bilateral gaze direction nystagmus, marked dysarthria with consecutive pervasive mutism, choreo-athetoid movements, spasmodic torticollis and diplopia dependent on gaze direction. Slit lamp examination showed Kayser-Fleischer's corneal ring. EEG- and computer assisted tomography investigations revealed non-specific findings. The patient was treated with D-Penicillamine. Alternative treatment with oral zinc preparations is discussed.
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PMID:Case report: concordant traumatic brainstem contusion delayed diagnosis in a young man with Wilson's disease. 778 83

Two children were referred with neck pain, torticollis, dysarthria, and atrophy of the tongue. The erythrocyte sedimentation rate was markedly elevated in both cases. Radiologic appearances were similar. In both cases the cervical spine was stable. Computerised tomography showed soft-tissue swelling surrounding the odontoid process and distorting the theca. Magnetic resonance imaging showed gadolinium enhancement of the soft tissue overlying the clivus and around the odontoid, impinging on the medulla and high cervical cord. Biopsy in the second case was not diagnostic. Steroids led to a dramatic and sustained improvement in symptoms and a marked decrease in soft tissue mass. The history, elevated inflammatory indices, radiologic appearance and response to steroids, are consistent with an inflammatory process.
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PMID:Painful torticollis with tongue atrophy--a different neck-tongue syndrome. 855 22

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.
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PMID:Hereditary non-progressive torsion dystonia with intellectual disturbance. 858 May 54

We studied the clinical efficacy of mexiletine, a derivative oral form of lidocaine, for treatment of spasmodic torticollis. One of the nine subjects of this study was previously reported. Before starting oral mexiletine, normal saline was first injected intravenously as placebo control; lidocaine infusion then followed and clinical evaluation was provided by dystonia rating scale scores, videotape recordings, and surface electromyographic recording. In all patients, lidocaine injection resulted in a decrease of dystonic muscle contractions within 5 minutes and the effect lasted approximately 1 hour. With gradual increase of mexiletine dose, similar clinical improvement was obtained with oral doses ranging from 450-1200 mg/day for more than 6 months. Side effects in six of nine patients included upper gastrointestinal symptoms, dizziness, ataxia, and dysarthria. These were tolerable or medically manageable; only one patient required a small reduction in mexiletine dose. Strong positive correlation was found between serum and cerebrospinal fluid (CSF) mexiletine concentrations with a CSF/serum ratio of 0.6 (r = 0.96, p = 0.0005) suggesting its effective penetrance into the central nervous system. We suggest that oral mexiletine therapy may be a safe and effective treatment for spasmodic torticollis.
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PMID:Mexiletine in the treatment of spasmodic torticollis. 982 18

Focal dystonias are relatively rare and significantly disabling disorders. These include cervical dystonia, blepharospasm and hemifacial spasm. The spasmodic torticollis consists of tonic posturing of the head away from its neutral position or twisting of the cervical muscles. The blepharospasm is an abnormal blinking, eyelid tic or twitch resulting from any cause. The hemifacial spasm is an involuntary unilateral twitching of the facial muscle. Patients affected by focal dystonias are predominantly females, and many times psychical stress can be revealed. The pathogenesis may involve dysfunction of the basal ganglia and brain stem although the exact mechanism remains to be elucidated. The patients need to be diagnosed and treated in centers specialized in movement disorders. Although many drug treatments can be beneficial, the most effective treatment is the local Botulinum toxin injection into the affected muscles. This neurotoxin produces temporary neuromuscular blockade, which reveals the symptoms and pain. The effect of the toxin is temporary and, therefore, the injection needs to be repeated every 6-12 weeks. The most common side effects are hypersensitivity, bleeding, hematoma, ptosis, facial spasm, dysphasia or dysarthria. With the use of proper dose and injection sites these side effects can be avoided.
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PMID:[Clinical symptoms, diagnosis and treatment of focal dystonias]. 1176 Jun 45

Deep neck abscesses are relatively rare in children compared with adults. Diagnosis can be difficult in pediatric patients because of the various clinical symptoms, therefore, it is important to correctly understand the pathology. We report herein on a rare pediatric case of a deep neck abscess that caused multiple instances of cranial nerve palsy. The patient was a 7-year-old boy who, despite treatment by a local physician for fever, swelling of the left neck and neck pain, developed torticollis, dysarthria, dysphagia and hoarseness and consequently consulted our department. We observed palsy associated with the IX, X, and XII left cranial nerves and a retropharyngeal abscess was diagnosed based on the computed tomography findings. The patient was hospitalized and underwent conservative treatment, and on day 21 of hospitalization, the patient was discharged after his symptoms had eased and the size of the abscess had reduced. We believe that palsy of the cranial nerves in the present case occurred as a result of pressure being applied to the cranial nerves in the carotid space due to an abscess in the retropharyngeal space.
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PMID:[A Pediatric Case of Retropharyngeal Abscess Causing Multiple Instances of Cranial Nerve Palsy]. 2634 78

A 38-year-old woman presented with cervical dystonia in the context of a recent surgery to remove a vestibular schwannoma. She initially presented to neurology with pain in the right arm, and MRI of the brain showed an incidental right-sided vestibular schwannoma (Video 1, Segment 1). An elective gamma-knife procedure was performed, which failed. Hydrocephalus requiring ventriculoperitoneal shunt insertion developed, and 3 years following the initial procedure the lesion was surgically excised. Surgery was further complicated by right middle cerebellar peduncle injury, extending to the cerebellopontine angle and marginally to the right pontine tegmentum, with subsequent mass effect on cerebellum displayed on follow-up MRI (Video 1, Segment 2). Six months later, the patient experienced forced head deviation to the right, with difficulty moving from this position. Examination revealed clear right-sided torticollis, with hypertrophy of the left sternocleidomastoid muscle. Cervical dystonia worsened with action and nearly resolved with the patient lying down. A clear geste antagoniste, where symptoms improved with the patient touching the side of her head, was present (Video 1, Segment 3). Findings consistent with injury to the cerebellar pathways were additionally exhibited. She demonstrated clear dysarthria, bilateral dysmetria, dysdiadochokinesia (worse on the right), and prominent gait ataxia (Video 1, Segment 4). Although a possible role of the schwannoma itself in the cervical dystonia pathogenesis cannot be entirely ruled out, the timing of signs, occurring soon after the postsurgical injury, suggest a prominent involvement of structures lying within the cerebellar pontine angle.
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PMID:Cervical Dystonia Following Injury to the Cerebellar Pontine Angle: An Instructive Case. 3063 92


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