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 patient is reported whose ailment meets the criteria of CPM. The illness was complicated by pneumonitis, most likely of the aspiration type. Of particular interest was the reversibility of a clinical picture of marked deterioration when attention was paid to fluid and electrolyte balance and maintenance of respiration. This patient's illness appears to meet the criteria of CPM, namely impairment of the facial muscles and tongue with dysphagia and dysarthria, flaccid quadriparesis or quadriplegia, and frequently, lack of response to painful stimuli followed by respiratory paralysis. The presence of peripheral neuropathy has been previously noted in a patient with CPM, but it is not an integral part of the disease.
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PMID:Central pontine myelinolysis. 37 56

A 51-year-old woman, with progressive gait disturbance and dysarthria, had been diagnosed as Menzel-type spinocerebellar degeneration. Later, she developed dystonic posture of upper limbs and bulging eyes. She was diagnosed as Machado-Joseph disease from neurological findings, which consisted of cerebellar signs, pyramidal tract signs and extrapyramidal tract signs and peripheral neuropathy. She died suddenly of unknown origin. Her illness lasted about 13 years. Neuropathological findings showed moderate neuronal loss with gliosis in the subthalamic nucleus, globus pallidus, substantia nigra, dentate nucleus, oculomotor and hypoglossal nucleus and anterior horn. Positron emission tomography (PET) using 15O steady state inhalation technique revealed reduction of cerebral blood flow and cerebral metabolic rate of oxygen in not only cerebellum but also cerebral cortex. These findings are different from typical PET findings of spinocerebellar degeneration.
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PMID:[A case of Machado-Joseph disease--cerebral blood flow and cerebral metabolic rate of oxygen]. 129 Nov 71

Seventy individuals with ataxia telangiectasia were studied: 29 females and 41 males with an age range of 2 to 42 years. The majority (43/68) presented by 3 years of age with truncal ataxia. All had progressive, handicapping neurological symptoms exhibiting ataxia (70/70), ocular motor apraxia (70/70), an impassive face (70/70), dysarthria (70/70), chorea (68/70), dystonia (55/70) and peripheral neuropathy (50/70). Clinical immune deficiency was present in 43 of 70 patients. Ocular telangiectasia were seen in all but one case and excessive thinness in 54 of 70. The mean age of loss of walking was 10 years and of writing 8 years. All 60 tested showed increased sensitivity to ionizing irradiation, 43 of 48 had an elevated alpha-fetoprotein level and 14 of 21 had an immunoglobulin deficiency. Although there was a marked variation in disease findings sibs were always similar. The heterogeneity seen seems at odds with the unilocus linkage of ataxia telangiectasia to 11q23.
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PMID:Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. 137 28

Neuronal intranuclear hyaline inclusion disease (NIHID) has been recognized in 14 patients. It usually occurs in the first and second decades but has been seen in the sixth. Both sexes are affected by this sporadic multisystem degenerative disorder that has involved the central and peripheral nervous systems with fibrillar and granular intranuclear inclusions. NIHID appears to be several variants of a multisystem degenerative disease as illustrated by the combination of a spontaneous, degenerative central and peripheral nervous system disorder with neuronal intranuclear inclusions and severe atherosclerotic coronary artery disease in a 23-year-old white man. Beginning at 11 years of age, this patient had experienced diffuse muscle spasms, dysarthria, dysphagia, tremors, ataxia, oculogyric crises, progressive muscle weakness, and atrophy. At autopsy, neuronal intranuclear hyaline inclusions and neuronal loss were seen in his brain, brainstem, cerebellum, spinal cord, bowel, bladder, and esophagus. These fibrillary and granular Cowdry type A and B intraneuronal inclusions were consistent with the diagnosis of NIHID associated with severe coronary atherosclerosis.
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PMID:Neuronal intranuclear hyaline inclusion disease associated with premature coronary atherosclerosis. 244 45

Magnetic resonance (MR) imaging of a case of Hallervorden-Spatz disease (HSD) using a 1.5 T system is described. The patient showed progressive spastic diplegia with equinovarus deformity of the feet, dystonic postural movements, dysarthria, dysphagia, mental deterioration, optic nerve atrophy, and peripheral neuropathy. These clinical features were compatible with HSD. Symmetrical, decreased signal intensity was seen on both proton density weighted and T2-weighted spin echo images in the globus pallidus as well as in the substantia nigra (Group I). This MR finding suggests an increased iron deposition in these subcortical nuclei, which is characteristic of HSD. The characteristic MR imaging, together with the relevant clinical features, was considered to be useful for establishing the diagnosis of HSD.
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PMID:MR imaging of a group I case of Hallervorden-Spatz disease. 317 Aug 46

The epidemiological, clinical, electrophysiological and nerve biopsy findings of 3 cases of n-hexane neuropathy in shoe industry are reported. The disease affects more than 1 person working in the same environment, regardless of their specific role, and occurs in factories where standards of hygiene are low. In the most severe cases the picture of peripheral neuropathy is associated with symptoms suggesting a concurrent involvement of the central nervous system such as dysarthria, disproportionate ataxia of the gait, blurred vision, and sometimes, after the recovery of the peripheral neuropathy, appearance of leg spasticity. Light- and electron microscopic study of peripheral nerve biopsies shows that the toxic produces a primary axonopathy characterized by segmental swellings of the fibers, due to accumulation of filaments. Retraction of the myelin from the node and segmental demyelination are secondary to the axonal changes. Experimental models of hexacarbon neurotoxicity may offer an explanation for the anatomical substrate underlying the symptoms related to the involvement of the central nervous system.
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PMID:n-hexane polyneuropathy. An occupational disease of shoemakers. 624 7

A 68 year old man with a 10 year history of apparently benign IgM kappa paraproteinaemia presented with dysarthria, left hemiparesis, and a sensory peripheral neuropathy. A calcified right temporoparietal extradural mass was shown by scintigraphy with 123I-serum amyloid P component to contain amyloid. There were no extracranial amyloid deposits. Clinical improvement followed craniotomy and partial resection of tissue which consisted of amyloid and a mixed mononuclear cell infiltrate. The amyloid fibrils consisted of the framework 1 region of the variable domain of monoclonal kappa IV immunoglobulin light chains. There was a prominent B-cell clonal immunoglobulin gene rearrangement in the tumour tissue, supporting a diagnosis of lymphoplasmacytic lymphoma, but no sign of systemic lymphoma. Neurological state, tumour volume, and quantity of amyloid have remained static for two years after treatment with chlorambucil.
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PMID:AL kappa amyloid in a solitary extradural lymphoma. 800 62

We report a case of adrenomyeloneuropathy in a 35-year-old man. He experienced acute adrenal insufficiency at 29 years of age, followed by psychic disorders and mental deterioration, then spastic paraparesia, dysarthria and peripheral neuropathy. MRI showed high-intensity signal areas in the cerebellum and periventricular white matter. Clinical symptoms, neurophysiological and neuroradiological examinations disclosed both features of adrenoleukodystrophy and adrenomyeloneuropathy. This indicates that adrenoleukodystrophy and adrenomyeloneuropathy probably represent two portions of the same entity.
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PMID:[Adrenoleukomyeloneuropathy in an adult]. 823 21

We reported a 33-year-old man with Lennox syndrome of 26 years' duration associated with unusual symptom complexes such as severe cerebellar ataxia and dysarthria, and peripheral neuropathy. His convulsive disorder was very intractable despite multiple anticonvulsants including phenytoin (PHT), phenobarbital (PB), primidone (PRM), valproate and so on. At the age of 25 he was no longer able to walk without help. PHT blood levels were kept almost within the therapeutic range, while PB blood levels tended to be greater than the therapeutic range. Needle EMG study revealed denervation pattern. Motor conduction velocity of the peroneal nerve was 25.2 m/s and sensory conduction velocity of the sural nerve could not be elicited. Brain CT and MRI showed the marked cerebellar atrophy predominant in the vermis. To our knowledge there were no previously reported cases of Lennox syndrome associated with such cerebellar dysfunctions and peripheral neuropathy. From the clinical course and laboratory findings, metabolic disorders and degenerative diseases were ruled out. We consider his cerebellar symptoms and peripheral neuropathy could be attributable to the long-term use of multiple anticonvulsants, i.e. PHT in combination with PB and PRM. These symptoms seem to be irreversible, because our patient's condition did not change after PHT and PB dose reduction, and discontinuation of PRM.
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PMID:[Lennox syndrome associated with severe cerebellar dysfunction and peripheral neuropathy]. 839 88

We report four sporadic cases of cerebellar ataxia associated with hypogonadism. All patients were female. The neurological symptoms appeared in the first three decades. Apart from ataxia, the most frequent features were nystagmus, dysarthria, mental impairment, brisk tendon reflexes, skeletal deformities, peripheral neuropathy, and tremor. Neuroimaging studies showed constant cerebellar atrophy, in some instances associated with involvement of either grey or white cerebral matter. Neurophysiological studies demonstrated an axonal neuropathy. Endocrine evaluation showed heterogeneity of the hypogonadism, which was hypogonadotrophic in one patient and hypergonadotrophic in the other three. One patient had partial deficiency of muscle cytochrome c oxidase. The syndrome appears to be a heterogeneous multisystem disorder and in some cases a mitochondrial metabolism deficiency could be suspected.
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PMID:Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes' type ataxia). 845 11


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