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)

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

A male, born on December 8, 1956, during the period when many Minamata diseases broke out in a district. His parents who ate much fish and shell fish taken in Minamata Bay suffered from the light, incomplete Minamata disease showing sensory disturbance, the constriction of the visual field, muscular weakness, etc. He weighed 3,225 gr. upon the normal birth given 10 months after pregnancy. His abnormalities were noted since his head was not stabilized on the neck even six months after the birth. Because of the delay in the development of the motor function, he became barely able to sit, stand up and begin walking at the ages of 3, 5 and 6 respectively. In 1962 (at the age of 6), his congenital Minamata disease was diagnosed in view of his clinical symptoms and epidemiological conditions. The mercury value in the hair and blood upon the birth is not known because a considerable time had elapsed after the birth when his mercury poisoning was discovered. However, the clinical symptoms included intelligence disturbance, character change, dysarthria, primitive reflexes, strabismus, hypersalivation, ataxia and hyperkinesia, indicating a typical congenital Minamata disease. Until he became 13 years old (1969) or so, his mental and motor function developed, both gradually. In the same year, he was admitted to a special class for the handicapped. EEG examination revealed that there was a slow alpha activity in the basic pattern and that 6 Hz positive spike was found in the sleep EEG. The constriction of the visual field was classified through examination.2+
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PMID:[Congenital Minamata disease accompanied by arachnoid cyst (author's transl)]. 709 64

X-linked Charcot-Marie-Tooth disease (CMTX) is a hereditary demyelinating neuropathy caused by mutations in the connexin 32 (Cx32) gene. Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy. We have evaluated two male patients with CMTX who on separate occasions developed transient ataxia, dysarthria, and weakness within 3 days of returning from ski trips at altitudes above 8,000 feet. Magnetic resonance imaging studies in both patients showed nonenhancing, confluent, and symmetrical white matter abnormalities that were more pronounced posteriorly and that resolved over several months. Magnetic transfer images in one patient demonstrated increased magnetization transfer ratios distinct from that seen in demyelination or edema. Both patients returned to their normal baseline within 2 to 3 weeks. These cases suggest that CMTX patients are at risk for developing an acute, transient, neurological syndrome when they travel to places at high altitudes and return to sea level. Cx32 mutations may cause central nervous system dysfunction by reducing the number of functioning gap junctions between oligodendrocytes and astrocytes, making both cells more susceptible to abnormalities of intercellular exchange of ions and small molecules in situations of metabolic stress.
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PMID:Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. 1232 71

Neurological findings, motor symptoms, mental abnormality and dysarthria were examined in 28 children with lesions in the thalamus, putamen, and/or peri-Rolandic area. The thalamus and putamen were involved in eight, and only the thalamus in ten of the children. Most of these 18 children had mild disabilities; they did not have severe mental retardation and could walk alone, speak words, and grasp an object. Dominant flexion of the hips was observed in many of the children who could walk. Two-thirds of these children had athetotic involuntary movement and the remaining had gross or fine motor abnormalities although they had no involuntary movement. In most of these children, reaching patterns were abnormal and were affected by shoulder retraction. Their abnormal movements were thought to be inappropriate muscle activity brought about by voluntary movements. In the remaining ten children, the thalamus, putamen, and peri-Rolandic area were all involved. Many had severe disabilities such as severe mental retardation and the inability to sit, speak words, or grasp an object. All had athetotic involuntary movements. Three children had spasticity of the lower extremities. Five children with severe disabilities and no spasticity were thought to have apparent weakness with athetosis.
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PMID:Clinical profiles of children with cerebral palsy having lesions of the thalamus, putamen and/or peri-Rolandic area. 1513 Jun 88

We report a 71-year-old man presenting with paraneoplastic cerebellar degeneration (PCD) associated anti-Yo antibody after surgery for gastric adenocarcinoma. Seven months after partial gastrectomy, he deviated to the right on walking. Furthermore, a feeling of dysarthria appeared and he was unable to sit after 2 months. When he was hospitalized, he showed a disturbance of his eye movement on lower gaze, a nystagmus on lateral gaze, saccadic eye movement on smooth pursuit, cerebellar ataxia, and decreasing of muscle tonus in his extremities. However, no atrophic findings of the brainstem and cerebellum were revealed by brain MRI. He responded poorly to treatment with high-dose methylprednisolone, high-dose immunoglobulin, double filtration plasmapheresis and rehabilitation. There was a strong anti-Yo immunohistochemical staining of the cytoplasm in both the patient's tumor cells and normal cerebellar Purkinje cells. These findings suggest that PCD associated with anti-Yo antibody triggered by adenocarcinoma might occur in this male patient.
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PMID:[Anti-Yo antibody associated paraneoplastic cerebellar degeneration with gastric adenocarcinoma in a male patient: a case report]. 1661 40

Gait and limb incoordination and ataxia are most often found in patients with brainstem and cerebellar infarcts and hemorrhages. Lesions involving the thalamus and the deep portions of the cerebral hemispheres also may cause ataxia accompanied by weakness and sensory symptoms. Patients who have lesions in the lateral medulla and inferior cerebellum often topple, lean, or veer when attempting to sit, stand, or walk. They list to the side or abruptly veer when walking. The affected limbs are often hypotonic. In pontine lesions, ataxia is accompanied by weakness and pyramidal tract signs as part of an ataxic hemiparesis syndrome. In lesions affecting the superior cerebellum and the brachium conjunctivum, limb dysmetria and overshoot and dysarthria predominate and gait ataxia is absent or slight and transient. Infarcts affecting the thalamus can cause gait instability and astasia with ataxia. Lateral thalamic lesions are characterized by hemisensory symptoms, extrapyramidal limb postures and dysfunction, and gait ataxia. Lesions that affect the posterior limb of the internal capsule and its afferent and efferent projections may also cause an ataxic hemiparesis syndrome, often with accompanying hemisensory abnormalities.
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PMID:Ataxia in patients with brain infarcts and hemorrhages. 2182 86