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)

We describe three brothers with type 3 GM1 gangliosidosis presenting as dystonia. The ages of the patients when examined were 28, 31, and 33. They had developed dysarthria with facial grimacing since early childhood. The common neurological sign was generalized dystonia. Both dystonic postures and dystonic movements resulting from varying degrees of fixed rigidity of each muscle involved did not disappear when the patients were lying or sitting relaxed. There was no correlation between the severity of dystonia and the residual activities of acid beta-galactosidase. Magnetic resonance imaging (MRI) showed bilaterally symmetric high intensity lesions only in the putamen on T2-weighted and proton density images. Selective putaminal changes on MRI may be the lesions most responsible for symptomatic dystonia in this disorder.
Acta Neurol Scand 1992 Dec
PMID:Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. 133 95

The authors report three children who suffered transient loss of speech during six to eight weeks following removal of a large midline cerebellar tumour. None manifested speech difficulties immediately after surgery, but all developed mutism within 24 to 48 hours. The speech of all children slowly but completely recovered, after a period of severe dysarthria. The re-organization of speech functions is discussed in relation to the functioning of musculature.
Dev Med Child Neurol 1992 Dec
PMID:Transient loss of speech followed by dysarthria after removal of posterior fossa tumour. 145 41

Analysis of the temporal sequence of neurologic events, neurophysiologic abnormalities, and longevity in 36 Niemann-Pick type C patients revealed two clinical subgroups with five stages of severity within each group. Patients with a preschool onset (group I; n = 18) had a higher mortality than did patients with a school-age onset (group II; n = 18). An asymptomatic phase (stage 0) was defined by biochemical and histopathologic evidence of disease. The initial manifestations of stage 1 were a movement disorder (group I) and cognitive difficulties (group II) accompanied by impaired vertical saccadic eye movements and abnormal acoustic reflexes. Stage 2 was characterized by the sequential occurrence of vertical supranuclear gaze palsy (VSGP), cognitive difficulties, and dysarthria in group I and a movement disorder, VSGP, and dysarthria in group II. Pyramidal tract signs and abnormal brainstem auditory evoked responses defined stage 3 in both groups. Stage 4 culminated in a nonambulant, vegetative state.
Neurology 1992 Dec
PMID:A clinical staging classification for type C Niemann-Pick disease. 146 80

Syringobulbia is a term which has been clinically applied to brain stem symptoms or signs in patients with syringomyelia. Syringobulbia clefts are found on investigation or at necropsy caused by cutting outwards of the CSF under pressure from the fourth ventricle into the medulla. These should be differentiated from the ascending syringobulbia which may occur from upward impulsive fluid movements in a previously established syringomyelia. Clinical analysis of 54 patients suggests that bulbar features are most often found with neither of the above mechanisms but are due to the effects of pressure differences acting downward upon the hind-brain with consequent distortion of the cerebellum and brainstem, traction on cranial nerves or indentation of the brain-stem by vascular loops. The commonest symptoms in the 54 patients were headache (35), vertigo (27), dysphonia or dysarthria (21), trigeminal paraesthesiae (27), dysphagia (24), diplopia (16), tinnitus (11), palatal palsy (11) and hypoglossal involvement (11). Careful attention to hydrocephalus is advisable before craniovertebral surgery, but the decompression of the hindbrain and the correction of craniospinal pressure dissociation remains the mainstay of surgical treatment. The results of careful surgery are good, 45 of the 54 cases reported improvement. Most of the reported deterioration occurred in a few patients who did conspicuously badly.
J Neurol Neurosurg Psychiatry 1992 Dec
PMID:Syringobulbia: a surgical appraisal. 147 91

A 53-year-old male complained of frequent left motor-sensory transient ischemic attack for 4 months. On admission, he demonstrated mild right hemiparesis, dysarthria, and right hemisensory disturbance of all modalities. Cerebral angiography demonstrated complete occlusion of the left internal carotid artery just above the origin of the ophthalmic artery and a stenotic lesion at the horizontal segment of the right middle cerebral artery. Renal angiography showed severe stenosis of the right renal artery. Systolic blood pressure was over 200 mmHg and marked circadian variation of blood pressure was noted. Serum renin was 4.0 ng/ml/hr. Four months after superficial temporal artery-middle cerebral artery anastomosis, left carotid angiography showed good patency of the bypass and the ischemic symptoms completely disappeared. Single photon emission computed tomography (SPECT) showed increased cerebral blood flow (CBF), especially in the left hemisphere after surgery. Six months after the bypass surgery, he complained of mild right hemiparesis again. Shortly after percutaneous transluminal angioplasty (PTA) for renal arterial stenosis, his hemiparesis was improved and the systolic blood pressure stabilized to 150-170 mmHg. SPECT showed the CBF had also recovered in both hemispheres. The improvement in ischemic symptoms and increased CBF after PTA were probably related to stabilization of the systemic blood pressure or inhibition of serum renin-angiotensin.
Neurol Med Chir (Tokyo) 1991 Dec
PMID:[Improvement of ischemic symptoms and cerebral blood flow after percutaneous transluminal angioplasty for renovascular hypertension. Report of a case with multiple cerebrovascular occlusive disease]. 172 58

Recently attention has been drawn to postoperative cerebral hyperperfusion after carotid endarterectomy (CEA) associated with a preoperative state of impaired cerebral hemodynamics. Rarely postoperative neurological deficits are caused by cerebral edema due to hyperperfusion. The patient was a 65-year-old male with dysarthria and right hemiparesis. Because of the presence of severe stenosis of the left carotid artery, CEA was performed. On the 6th postoperative day, he developed severe right hemiparesis and aphasia due to cerebral edema in the subcortical region of the left cerebral hemisphere. Left carotid angiography showed normal circulation without evidence of the carotid stenosis. Later the cerebral edema and the neurological deficits gradually disappeared.
Neurol Med Chir (Tokyo) 1991 Dec
PMID:[Neurological deterioration due to cerebral hyperperfusion following carotid endarterectomy. Case report]. 172 61

A 55-year-old man came to us with dysarthria and right hemiparesis. The cerebral angiography showed segmental narrowing and irregularity of the left anterior cerebral artery. The patient responded well to corticosteroid therapy and there was later angiographic evidence of healing. After systemic angiitis and central nervous system infection were excluded, the diagnosis of isolated benign cerebral vasculitis was made. According to past reports, at least 13 patients have been described as having isolated benign cerebral vasculitis. The common features of isolated benign cerebral vasculitis are as follows: 1) benign evolution, 2) sensitiveness to corticosteroids, 3) absence or minimal change of CSF findings, 4) angiographic pattern of arteritis, 5) the most common symptom is headache. We suggest that early corticosteroid therapy is necessary in any case of cerebral vasculitis.
No Shinkei Geka 1991 Dec
PMID:[A case of what was regarded as isolated benign cerebral vasculitis]. 176 43

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.
J Neurol Neurosurg Psychiatry 1991 Dec
PMID:An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia. 183 93

This study gives detailed information regarding the changes of bulbar dysfunction in a long-term follow-up of four severely brain-damaged young persons. There are similarities in the pathology and symptomatology of the four and all made measurable improvements albeit these did not start for some considerable time following injury. Few gains in bulbar function were noted in the first 18 months. One subject began to improve after 24 months, another after 30 months with the most substantial changes for all subjects being seen by 48 months post-injury. Further small improvements continued to be recorded up until the end of the study. The four subjects with severe dysarthria and profound physical disability following head injury were monitored for 7 years. All were assessed using the Frenchay Dysarthria Assessment (FDA) at regular intervals. The gains were not so significant that any became independent oral speakers. Although the subjects remain severely dysarthric and all use communication aids, the improvements are seen to have functional relevance. The timing of the maximum improvement was noted to follow the cessation of specific remediation of bulbar function. The results of this study raise interesting questions with regard to neurological recovery and rehabilitation management. It is possible to speculate that oral/motor therapy should be implemented at a later stage with severely head-injured patients in an attempt to exploit and extend returning function.
Br J Disord Commun 1990 Dec
PMID:Long-term recovery patterns of severe dysarthria following head injury. 215 67

Symptoms compatible with vertebrobasilar ischemia have been reported in patients with unilateral or bilateral carotid occlusive disease. Intracranial steal phenomena have been proposed to explain the symptoms. In a review of 54 patients with angiographically documented severe bilateral carotid stenosis (less than or equal to 2 mm residual lumen) or occlusion, eight had symptoms suggesting vertebrobasilar insufficiency. Five patients were identified retrospectively, and the other three were evaluated prospectively. Symptoms included various combinations of hemodynamically mediated, transient bilateral motor, sensory, or visual impairment. Dysarthria, dysphagia, and diplopia were generally absent. Each patient also described additional symptoms compatible with transient hemispheric or retinal ischemia. The anatomic regions subserving the bilateral vertebrobasilar-like symptoms could be correlated with angiographically estimated arterial border zones in both hemispheres and may thus represent bilateral hemispheric border zone ischemia rather than brain stem ischemia. An intracranial steal need not be invoked.
Stroke 1990 Dec
PMID:The syndrome of bilateral hemispheric border zone ischemia. 226 72


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