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 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory neuropathy and internuclear ophthalmoplegia.
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PMID:An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia. 183 93

The clinical features in 100 patients suffered from olivopontocerebellar atrophy (OPCA) and their genetic trait were studied. The diagnosis was verified in all cases with computed tomography, demonstrating the atrophy of cerebellum and brainstem, vascular, neoplastic, infectious and any other organic disorder suspected were excluded. 53 out of 100 cases were sporadic (SOPCA) and the remainder (47 cases) was familial (FOPCA). The age of onset in SOPCA group was 36.1 +/- 14.95 (M +/- SD) in average, while in FOPCA group was 28.9 +/- 11.8. It seems that the symptoms in FOPCA group develop earlier than that in SOPCA group (P less than 0.05). All 47 cases of FOPCA group belong to 36 families in which altogether 166 persons were involved. According to pedigree patterns, there were 26 families inherited as autosomal dominant trait and probably so in another 5 families. Autosomal recessive trait could be confirmed in 2 families, in which the parents of proband were consanguineous, and in 3 other families autosomal recessive trait of inheritance was highly suspected. Anticipation was demonstrated in 26 families with dominant inheritance. Generally, ataxia and weakness of legs develop as initial symptoms in 88% of cases, then followed by dysarthria, and ataxia of upper extremities. The rapid alternating test of hand was impaired in 95% of patients, however, tension tremor was revealed only in 53% of patients. A method for assessing the ataxia quantitatively was proposed, our data suggest that the quantitative alternating test in the upper extremity and the measurement of base-width in lower extremity seem to be valuable in identifying the intensity of ataxia.
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PMID:[Olivopontocerebellar atrophy: clinical analysis of 100 cases]. 186 Mar 80

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.
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PMID:[A case of HTLV-1 associated myelopathy progressed in course over 30 years]. 189 70

Case 1. A 46-year-old man suddenly developed mild gait disturbance and left hemiparesis. On examination, gross strength was slightly reduced in the left extremities. The finger-to-nose and heel-to-knee tests disclosed moderate dyssynergia and dysmetria on the left side that could not be explained by the muscular weakness. Deep tendon reflexes were more brisk in the left extremities. There was no Babinski sign. Magnetic resonance imaging showed a region of high signal intensity in the right posterior limb of internal capsule with extension into lateral thalamus. The lesion involved the cortico-ponto-cerebellar pathway and partly the dentato-rubro-thalamo-cortical pathway. No lesions were seen in the brainstem. Single photon emission CT with 123I-IMP showed left cerebellar hypoperfusion termed crossed cerebellar diaschisis by Baron et al. Case 2. A 65-year-old female developed weakness of the left extremities and gait disturbance. On examination, there was a horizontal nystagmus on lateral gaze to each side. She showed dysarthria, mild left hemiparesis and slight left hypesthesia. The finger-nose and heel-knees tests revealed moderate dysmetria and dyssynergia on the left side. Deep tendon reflexes were hyperactive in the left extremities with left Babinski sign. CT showed a low density area in the right basis pontis at about middle level. Intravenous digital subtraction angiography revealed a slight stenosis of right vertebral artery, but no other abnormality. The lesion involved the cortico-ponto-cerebellar pathway. Single photon emission CT with 123I-IMP showed left cerebellar hypoperfusion. The right cerebellar blood flow was normal.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Analysis of hemiparesis with homolateral ataxia by single photon emission CT]. 189 73

We reported two cases of brothers demonstrating oculopharyngeal muscular dystrophy (OPMD). The cases had consanguineous parents and five healthy siblings, which suggested the autosomal recessive inheritance. The initial symptom was slowly progressive blepharoptosis with onset in the third decade. On examination, total external ophthalmoplegia was observed in both patients. Additionally, the elder, a 57-year-old man, exhibited dysarthria, dysphagia and muscular weakness with atrophy of the face, bilateral proximal upper limbs and diffuse lower limbs. The younger brother, a 55-year-old man, displayed muscular weakness and atrophy distributed in the face and four limbs. Muscle biopsy of both cases revealed rimmed vacuoles and spheroid bodies in the atrophic and normal-sized fibers. Biochemical study of the biopsy specimens of the elder brother disclosed the myophosphorylase activity reduced to about 40% of the normal value, although in the younger brother, that activity was normal. OPMD is usually inherited in the autosomal dominant mode, and autosomal recessive OPMD is rare. The onset age of our cases was younger than that of the autosomal dominant OPMD. There were some differences in the clinical manifestation between the presented cases, which could be interpreted as phenotypic variation. The elder brother was thought to be associated with McArdle's disease.
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PMID:[Autosomal recessive oculopharyngeal "muscular dystrophy"--clinical features and association with reduced activity of myophosphorylase]. 191 22

This is the first large scale case series of motor neurone disease (MND) in Thailand. Seventy-seven patients were identified between 1978 and 1984 at Siriraj Hospital Medical School, Bangkok, Thailand. Fifty-five patients were male (71.43%) and the mean age of the patients was 51.55 (SD 14.26) years with the range of 17 to 78 years. Clinical classification of MND was categorized as progressive bulbar palsy (PBP), 26 patients (33.77%); amyotrophic lateral sclerosis (ALS), 42 patients (54.54%); and progressive spinal atrophy (PSA), 9 patients (11.69%). The mean age of PBP, ALS and PSA were in the order of 57.61 (SD 12.09), 52.81 (SD 11.18), and 28.11 (SD 9.44) years. Progressive spinal atrophy group was younger than PBP and ALS groups significantly at the P-value less than 0.05 by analysis of variance and Duncan tests. Fifty-three patients (72.60%) were resident in Bangkok and the central part of Thailand. The main presenting symptoms were wasting of the small muscles of both hands, leg weakness, and speech and/or swallowing difficulties. These symptoms were found in 62 patients (81.58%). Nearly half of the patients (48.68%) came to our care within six months of onset, 22.8 per cent presented with asymmetry of motor wasting, while limb and trunk fasciculation was seen in 73.61 per cent. Dysarthria, dysphagia and tongue fasciculation were recorded as 51.32, 48.68, 60.53 per cent respectively. Exaggerated deep tendon reflexes were noted as 65.79 and 80.26 per cent over the upper and lower limbs, while Babinski sign was elicited in only 23.3 per cent of the patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Motor neurone disease in Thailand: the clinical aspects of 77 patients. 194 Jul 1

We studied 23 individuals (16 men, seven women; mean age 57 years) who had brainstem strokes confirmed by computed tomography of the head or magnetic resonance imaging. Videofluoroscopic modified barium-swallowing examination showed aspiration in 15 of 23 patients. Of the 15 aspirating patients, the majority had bilateral strokes with multiple lesion loci, most often in association with large-vessel disease. All 15 patients had involvement of the pons or medulla. Statistical analyses revealed a significant association between aspiration and pharyngeal residue observed under videofluoroscopy, cranial nerve IX abnormality, vocal fold weakness, and severe dysarthria. Despite initial severity, recovery was good. Following an aggressive program of aspiration prevention, over 80% of patients resumed full oral nutrition at the last follow-up.
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PMID:Dysphagia following brain-stem stroke. Clinical correlates and outcome. 195 4

This report describes a rare complication after the resection of a tumor of the posterior fossa, the "one-and-a-half" syndrome. The one-and-a-half syndrome is a disturbance of horizontal eye movements in which patients have lateral gaze palsy in one direction and internuclear ophthalmoplegia in the other direction. The patient was a 54-year-old woman who developed headaches, diplopia, and blurred vision over 6 months. Computed tomographic scans and magnetic resonance imaging demonstrated an enhancing, mixed density, midline mass of the cerebellum. After a resection of the mass, an anaplastic astrocytoma, the patient complained of more severe diplopia and facial weakness. An examination disclosed a left one-and-a-half syndrome, left peripheral facial paralysis, dysarthria, dysphagia, mild left hemiparesis, dysmetria of the left upper limb, and truncal ataxia. The brain stem showed no abnormalities on postoperative computed tomographic scans. After 4 months of follow-up, the one-and-a-half syndrome had not improved, even though other signs had improved or resolved. This syndrome is caused by damage to structures within the pontine tegmentum: the medial longitudinal fasciculus, the ipsilateral paramedian pontine reticular formation, or the ipsilateral abducens nucleus. Multiple sclerosis and brain stem infarction are the most common causes of the one-and-a-half syndrome. Less frequently, it is caused by primary and metastatic tumors of the brain stem and cerebellum. Rarely, the one-and-a-half syndrome can develop postoperatively after the removal of tumors of the posterior fossa. The mechanism of pontine tegmental injury remains unknown.
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PMID:"One-and-a-half" syndrome after a resection of a midline cerebellar astrocytoma: case report and discussion of the literature. 196 11

We report a case of Horner's syndrome due to ipsilateral posterior hypothalamic infarction, occurring in the absence of other signs of hypothalamic dysfunction. Associated symptoms of contralateral faciobrachial weakness and dysarthria correlated with the extension of the infarct into the posterior limb of the internal capsule seen by magnetic resonance imaging. The likely vascular anatomy of this lesion is discussed.
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PMID:Horner's syndrome from hypothalamic infarction. 200 Nov 93

We describe four men from two kinships affected with X-linked recessive bulbospinal neuronopathy, and one sporadic case. All developed postural tremor, weakness, and fasciculations, with onset from age 25 to 39 years. Weakness began in the pelvic girdle or hands, with dysphagia or dysarthria occurring years later in two. Sensory symptoms were present in only one, who also had diabetes mellitus. In contrast, sural nerve action potentials were small or absent in all. Needle EMG showed widespread chronic partial denervation with reinnervation. The characteristic twitching of the chin produced by pursing of the lips consisted of repetitive or grouped motor unit discharges, rather than fasciculations. Broader awareness of the distinctive features of bulbospinal neuronopathy will probably increase the frequency of its recognition. Diagnosis is important for purposes of providing a prognosis for affected men and genetic counseling for affected families.
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PMID:Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. 153 Jul 14


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