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

Sixty-six hospitalized patients suffering from chronic methylmercury poisoning were examined in Baghdad during 1972. The poisoning was attributed to consumption of home-made bread prepared from seed wheat treated with mercurial fungicide. The age incidence ranged between 4 and 70 years.Of the various clinical features encountered, neurological symptoms and signs were predominant and included muscular weakness, numbness, unsteady gait, paraesthesia, dysarthria, mental disturbances and, in severe cases, blindness, partial deafness, stupor, coma, and death. Involvement of the cardiovascular, urinary, gastrointestinal and haemopoietic systems, which was commonly encountered in ethylmercury poisoning in the 1960 outbreak in Iraq, was unusual.The severity of symptoms and signs was, broadly speaking, dose-dependent; high exposure led to severe clinical manifestations, but variations existed. Criteria, based on the clinical manifestations, were set for grading the severity of cases. The series included 2 asymptomatic cases, 20 mild, 20 moderate, 14 severe, and 10 very severe. In the latter group 5 patients died from failure of the central nervous system.The severely poisoned patients died irrespective of the medical treatment received. After 2 years of observation, most patients graded as mild or moderate cases lost their symptoms completely. Severe cases improved slowly, although ataxia, diminution of visual field and acuity and paraesthesia were still present. Thus, the previously accepted view that neurological signs were irreversible has been disproved.
 ...
PMID:Intoxication due to alkylmercury-treated seed--1971-72 outbreak in Iraq: clinical aspects. 108 68

A 66-year-old female suffering from HTLV-1 associated myelopathy (HAM) for more than 30 years was hospitalized because of memorial impairment, deafness, dysarthria, dysphagia, and complete paraplegia. She first noticed stiffness and weakness of the right leg at 35 years of age. Gait disturbance was slowly progressed and complete paraplegia developed 18 years later. Neurological examinations on admission revealed that she was bedridden with decubitus, mental deterioration (pre-dementia of subcortical type), bilateral optic nerve atrophy, severe sensory-neural deafness, dysarthria, complete paraplegia, and marked neurogenic bladder. Laboratory data showed mild normocytic anemia and moderate diabetes mellitus. Anti-HTLV-1 antibody titers in serum and CSF were 78,192X and 1,024X, respectively (PA method). Serum levels of soluble IL-2 receptor was markedly elevated (2,200 U/ml). Peripheral blood lymphocytes showed spontaneous proliferation when cultured for 5 days (3H-thymidine uptake; 45,285 cpm/5 X 10(4) cells). MRI examinations of the spinal cord disclosed a predominant atrophy of lower thoracic cord without any compressive lesions. Brain MRI showed diffuse high intensity lesions of the periventricular area on T2 weighted images. Such abnormalities were predominantly found in fronto-parietal region and were quite similar to those of leuko-ariosis. Single photon emission CT using 123I-iodoamphetamine showed hypoperfusion of cerebral white matter on delayed image. It has been reported that intellectual impairment and brain atrophy are not usually seen in HAM patients. The present case, however, shows that such abnormalities of the central nervous system could occur in HAM patients with a long duration of illness.
 ...
PMID:[A case of HTLV-1 associated myelopathy progressed in course over 30 years]. 189 70

A sixty-year-old man was admitted to our hospital on January, 1989. He had suffered a hemorrhage in the right side of pontine tegmentum on April, 1988. He had been in deep coma for about a week, and then he had showed diplopia, mild right deafness, right facial palsy, left hemiparesis, dysarthria, dysphagia, and urinary disturbance. He showed slight improvement of these symptoms and signs, but had developed thereafter extremity myorhythmia on the left side. On admission, rightward slow eye movement (absence of saccadic eye movement and preservation of pursuit eye movement of both eyes) was present. MRI revealed a hypointensity lesion with a hyperintensity spot on T2-weighted images showing an old hemorrhage in the right pontine tegmentum and a hyperintensity lesion on T2-weighted images showing an olivary pseudohypertrophy on the right. We concluded that the extremity myorhythmia in this patient was caused by the damage of the right central tegmental tract followed by right olivary pseudohypertrophy. The rightward slow eye movement was considered to be due to the damage of the right paramedian pontine reticular formation and/or its afferent fibers in the pontine tegmentum.
 ...
PMID:[Left-sided extremity myorhythmia and rightward slow eye movement caused by a hemorrhage in the right pontine tegmentum]. 233 25

The term sudden hearing loss refers to hearing losses of sensorineural origin that evolve over a short period of time and are often of unknown origin. Common causes include damage to the cochleovestibular nerve by viral infection, autoimmune disease, vascular insult, and labyrinthine membrane rupture. A 70-year-old man had a history of recent diplopia, dysarthria, syncopal episodes, dysequilibrium, and the sudden onset of deafness in his right ear. Angiography demonstrated severe ulcerative stenosis of the right internal carotid origin and an anomalous vessel (probable remnant of hypoglossal artery) originating from the distal right internal carotid artery that perfused the entire distal vertebral and basilar artery circulation. Arch angiograms confirmed the absence of a proximal right vertebral artery and revealed a small left vertebral artery that ended in the cervical region without reaching the posterior fossa. Standard right carotid endarterectomy with patch angioplasty resolved all neurologic symptoms except for persistent unilateral deafness at 9 months' follow-up. Presumed embolization through this anomalous vessel to the internal auditory artery and subsequent cochlear and vestibular branches represents the first reported case of sudden hearing loss as a result of anterior circulatory ulcerative disease.
 ...
PMID:Unilateral sudden hearing loss as a result of anomalous carotid anatomy. 239 91

Xeroderma pigmentosum associated with neurological abnormalities is a less familiar neurocutaneous disorder. In this report, 35 patients with group A xeroderma pigmentosum were assessed for neurological complications. Of these, 17 showed microcephaly and 24 mental retardation. Of 25 patients over 7 years of age, 22 had sensorineural deafness and 12 showed spinocerebellar signs such as nystagmus, dysarthria, tremor and ataxia, while none below 7 years of age had such neurological complications. Thirty-five EEG studies were performed on 29 patients, and 15 showed intermittent spindles of grouped theta waves with abnormal slow background activity and a poorly developed alpha rhythm, suggesting immature brain development or a regression from normal brain function in many areas including the diencephalon. Twenty-six patients were examined by cranial CT scan, of whom 20 showed abnormal CT findings such as ventricular dilatation, diffuse cortical atrophy, and marked thickening of the calvarial bones. The incidence of abnormal EEG and CT findings increased with advancing age in accordance with the development of neurological complications in the CNS, thus suggesting a chronic progressive degenerative disease.
 ...
PMID:EEG and CT abnormalities in xeroderma pigmentosum. 281 76

Dolichoectatic intracranial arteries (DIA) have been given several names, e.g. fusiform aneurysms, dolichomega-arteries. It is not an uncommon condition and it raises interesting points: 1) symptoms and signs result from compression (cranial nerve palsies; hydrocephalus) from ischemic or hemorrhagic episodes; 2) the diagnosis is made easier with CT since the arterial wall is often calcified; 3) the pathophysiology has long been assumed to be atherosclerotic in nature, but controversial assumptions are discussed; 4) associated arterial abnormalities are common: one of our cases and approximately half of the post mortem reported DIA were associated with aneurysm of the abdominal aorta. Two cases are reported here: 1) A 56 y/o male presented with progressive gait disorder, deafness and ischemic episodes. CT showed DIA and hydrocephalus. DIA involved the basilar artery, both intracranial carotid arteries, the abdominal aorta and probably one renal artery. A ventriculo-atrial shunt was performed unsuccessfully. Post mortem findings are reported; 2) A 52 y/o male had suffered from trigeminal neuralgia for about one year and from trigeminal permanent pain for two weeks. He had developed left hemiparesis and dysarthria. DIA involved the basilar artery and the left intracranial internal carotid artery. The right internal carotid artery and the right vertebral artery were hypoplastic. Clinical, radiographical and pathophysiological features are reviewed.
 ...
PMID:[Dolichoectatic intracranial arteries. Association with aneurysms of the abdominal aorta]. 305 65

We report on a male patient suffering from a congenital ichthyosiform dermatosis, whose family history offered no clue to the diagnosis. The skin lesions were mainly localized on the trunk, hands, elbows, and knees. During the last few years, the cutaneous lesions had slowly changed for the worse and the following additional symptoms had developed: keratitis, deafness, diffuse alopecia, dysarthria, and ataxic abasia. According to the clinical features, we established the diagnosis of KID syndrome (keratitis, ichthyosis, deafness). Although the skin lesions of our patient clinically and histologically belong to the group of atypical erythrokeratodermias, the term "KID syndrome" recently described by Skinner represents an useful, unifying clinical term.
 ...
PMID:[Atypical erythrokeratodermia with deafness, keratitis and double mycotic infection]. 323 40

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.
 ...
PMID:Neurological manifestations in xeroderma pigmentosum. 374 Aug 15

Communicating syringes confined to the brain stem are extraordinarily rare. Two patients, presenting with signs and symptoms of cerebellar dysfunction, later developed evidence of brain-stem disease with dysarthria, nystagmus, deafness, and internuclear ophthalmoplegia. The condition of both patients had been diagnosed clinically as multiple sclerosis, but at autopsy they had a striking keyhole-shaped syrinx in the midbrain and upper pons, which communicated with the aqueduct and fourth ventricle without associated syringomyelia. In addition, both patients had marked atrophy and gliosis of the cerebellum, one with extension of the syrinx into cerebellar folia. The unique character of these lesions coupled with the similarity of the clinical features of the cases prompted us to name this disorder--"keyhole aqueduct syndrome."
 ...
PMID:Keyhole aqueduct syndrome. 374 Dec 9

The clinical features of 115 patients from 90 families with Friedreich's ataxia are described. Onset of symptoms was before the age of 25 (mean 10.52) years in all the index cases. An analysis of early cases suggested that limb and truncal ataxia and absent tendon reflexes in the legs were the only consistent diagnostic criteria within five years of presentation. Dysarthria, signs of pyramidal tract dysfunction in the legs and loss of joint position and vibration sense are not necessarily present during the first five years of symptoms, but appear to develop eventually in all cases. Scoliosis and ECG evidence of cardiomyopathy were found in over two-thirds of the patients studied; pes cavus, distal amyotrophy, optic atrophy, nystagmus and deafness were all less frequent. The disorder was gradually progressive in all cases. The mean age of losing the ability to walk was 25 years; 95 per cent were chair-bound by the age of 44 years. About 10 per cent of the patients had diabetes mellitus which was controlled by oral hypoglycaemic drugs in one quarter. Diabetes appeared to be associated with a higher incidence of optic atrophy and deafness. Diabetes also clustered within sibships; the risk of an individual with Friedreich's ataxia developing diabetes if an affected sib has it is over 40 per cent. Similarly, cardiomyopathy ran true within affected members of the same sibship, but there were instances of discordance which suggest that the development of the non-neurological features of Friedreich's ataxia may be controlled by modifying genes rather than heterogeneity of the main gene. Segregation analysis and an increased consanguinity rate amongst parents of patients (5.55 per cent) confirmed that this disorder is of autosomal recessive inheritance. A study of 101 first degree relatives of the patients with Friedreich's ataxia failed to demonstrate any neurological or electrocardiographic abnormalities which could be ascribed to the heterozygous state.
 ...
PMID:Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. 727 14


1 2 3 4 5 Next >>