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)

Niemann-Pick disease type C (NPC) is a neurometabolic genetic disorder that is distinguished from Niemann-Pick disease by its later onset, more insidious progression, variable visceromegaly, and abnormalities of intracellular cholesterol metabolism. We describe a patient who presented with an 8-year history of psychosis requiring chronic neuroleptic therapy for a presumed diagnosis of schizophrenia. He was subsequently diagnosed with NPC as the emerging features of dementia, ataxia, dysarthria, and vertical supranuclear ophthalmoplegia were recognized. The characteristic features of adult-onset NPC and the obstacles to early diagnosis are reviewed.
Neurology 1995 Sep
PMID:Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C. 864 5

We report on a 12-year-old Chinese child with type C Niemann-Pick disease, who presented primarily with neurologic symptoms. He started to develop ataxia and dysarthria at the age of six years. Dementia, dysphagia, dystonia and seizures, in that sequence, followed within a couple of years. He was anarthric and bedridden five years after onset. Supranuclear vertical gaze palsy was found at the beginning of the illness. However, no hepatosplenomegaly or other physical abnormality was noted. Bone marrow aspirates revealed foamy storage cells and sea-blue histiocytes. However, sphingomyelinase activity in the cultured skin fibroblast was normal. The characteristic clinical presentations and typical pathologic and histochemical findings meet the diagnostic criteria of type C Niemann-Pick disease. We report the first Chinese case of type C Niemann-Pick disease and review 73 cases reported previously.
J Formos Med Assoc 1993 Sep
PMID:Type C Niemann-Pick disease: report of a Chinese case. 790 66

Mutism can be defined as "a condition in which there is no, or very little, oral-verbal expression, whereas comprehension of speech ... is normal or at least at a considerably higher level" (Lebrun, 1990). Benson (1979) enumerates five neuroanatomical correlates of mutism: (a) damage to the Broca region, (b) lesion of the supplementary motor area of the dominant hemisphere, (c) dysfunction of the mesencephalic reticular system, (d) thalamotomy, and (e) bilateral pathology of cortical and subcortical motor structures. The last item refers to syndromes of mutism resulting from central motor disorders. Depending on location and size of the lesion this pathophysiological interpretation should hold true for the fourth point as well. In mutism due to central motor disturbances lacking verbal expression represents the most severe degree of dysarthria, i.e. anarthria. The present review provides a detailed description of mutism following corticobulbar, striatal, and cerebellar dysfunctions.
Fortschr Neurol Psychiatr 1994 Sep
PMID:[Mutism in central motor disorders--a review of the literature]. 795 17

Superficial hemosiderosis (SH) of the CNS is a rare disease caused by repeated subarachnoid hemorrhage, with progressive superficial siderosis of the CNS. We report a patient with SH whose clinical picture was marked by progressive gait ataxia, hearing loss, dysarthria, and recurrent episodes of hemifacial spasm. Iron and ferritin levels in the CSF were significantly higher than in a control group of patients. Six month's treatment with the iron-chelating agent trientine dihydrochloride led to clinical improvement, with a concomitant reduction of CSF iron level. We suggest that, in addition to magnetic resonance imaging findings, CSF levels of iron and ferritin should be used as diagnostic criteria for SH, as well as to estimate the efficacy of iron chelation treatment.
Mov Disord 1994 Sep
PMID:Superficial hemosiderosis of the central nervous system. 855 30

The Motor Speech Treatment Hierarchy used to guide PROMPT intervention represents a theoretical framework for the application of all bottom-up motor speech treatments. In addition, the hierarchy can be used prior to motor speech treatment to evaluate what aspects of the child's neuromotor system are intact and which elements are operating ineffectively or partially. When consideration is given to the development of the speech motor system and the interaction among the various valves and/or articulators, it becomes apparent that treatment must focus on the integration of all these aspects in order to be successful. The goal of intervention must be the voluntary control of all speech actions. But voluntary control of all speech actions is not possible for all children, and the clinician must realize that compensatory actions, although beneficial in the short term, will limit more complex interactions later. It is for these reasons that more attention should be given to mastery of control at the lower stages of the hierarchy. The clinician should not assume that all actions are intact based upon the perceived quality of speech. For the child with "pure" DAS, intervention usually begins at stage V or VI, whereas for children with developmental dysarthria, intervention begins at lower levels of the hierarchy. The responsibility, as always, lies with the clinician to determine the most appropriate level at which intervention should begin and the steps needed to achieve the best speech production. The clinician's knowledge provides the foundation for changing deviant motor speech patterns and for providing for our clients voluntary control of motor speech function. It has been the aim of this article to provide for clinicians a framework for treatment that will enhance their clinical effectiveness.
Clin Commun Disord 1994 Sep
PMID:Motor Speech Treatment Hierarchy: a systems approach. 799 91

A 62-year-old man developed recurrent TIAs presenting as mild unconsciousness, dysarthria and weakness of the right upper extremity lasting for 15 to 20 minutes. He was found to have severe iron deficiency anemia (hemoglobin: 5.5-5.9g/dl; hematocrit: 18.4-19.5%) which insidiously developed through the chronic bleeding from the gastric ulcer. He had slight hypertension (184/86mmHg), but no orthostatic hypotension. DSA and MR angiography showed severe stenosis at the origin of the bilateral internal carotid arteries and of the left vertebral artery. There was also hypoplasia of the right vertebral artery. Blood circulation detected by 123I-IMP-SPECT was markedly decreased in the whole brain and in the right hemisphere of the cerebellum. TIA was, however, completely disappeared following to the recovery of anemia. The present case suggested that the presence of severe anemia accelerated the occurrence of hemodynamic TIA (regional cerebral anemic hypoxia), which is probably the consequence of the reduced oxygen-transporting capacity of the blood.
No To Shinkei 1994 Sep
PMID:[Hemodynamic TIA associated with severe anemia--a case report]. 799 47

We report a 54-year-old man with progressive generalized muscle atrophy and ophthalmoparesis in the terminal stage. He was well until 44 years of age (1982) when he noted weakness in his right hand and muscle atrophy; in May of 1985, he noted weakness in his left hand and in both legs. His weakness had become progressively worse, and he became unable to walk in November of 1985. He noted dysarthria one month later, and dysphagia in March of 1986. His difficulty in swallowing had also become worse; he regurgitated foods into the trachea in September of that year, and he developed a low grade fever on the same day. He was admitted to our service on September 24, 1987. On physical examination, general findings were unremarkable, except for low grade fever (37.3 degrees C). On neurologic examination, he was alert and mentally sound. He had normal vision and visual fields; ocular movements were normal. He had moderate weakness in facial muscles, dysarthria, dysphagia, and atrophy in his tongue. He had marked generalized muscle atrophy with fasciculation. He was unable to stand or walk. His muscle strength was not more than 1/6 in any part. The lower extremities were spastic. Deep reflexes were exaggerated in both lower extremities but were normal in upper extremities. Sensation was intact. Laboratory examination was unremarkable, and so was the cranial CT scan. He was treated with nasogastric feeding. He was able to communicate smoothly using his eyes, but a restriction in the vertical gaze was noted in February of 1989. The range of ocular movement was better in the oculocephalic reflex compared with his spontaneous vertical eye movements. In April of 1990, his horizontal gaze also had become slow, and he was complicated by bronchial asthma. He was treated with 20 mg/day of prednisolone; after the institution of prednisolone, his horizontal eye movement showed much improvement. In the terminal stage, he was able to move his eyes only very slowly; vertical gaze was impossible. His subsequent course was complicated by respiratory tract infection and septicemia, and he expired on July 15, 1992. The patient was discussed in a neurological CPC, and the chief discussant arrived at the conclusion that this patient had amyotrophic lateral sclerosis with oculomotor paresis. Post-mortem examination revealed spongy change involving the posterior column and the posterior spinocerebellar tract, in addition to severe degenerative change in the upper and the lower motoneurons, which were consistent with amyotrophic lateral sclerosis.(ABSTRACT TRUNCATED AT 400 WORDS)
No To Shinkei 1994 Sep
PMID:[A 54-year-old man with generalized muscle atrophy and oculomotor paresis]. 799 50

We report a case of myasthenia gravis in a young Melanesian woman. It is only the second case described from Papua New Guinea and the first in which antibodies to the acetylcholine receptor have been demonstrated. The patient's complaint of occasional dysarthria was initially dismissed as hysterical in nature due to her apparent normal speech on conversation. The true nature of her problem only became apparent when she was asked to read a prolonged monologue. Myasthenia gravis may present without involvement of the eye muscles and the diagnosis may only become apparent if muscle groups are specifically tested for fatiguability.
P N G Med J 1993 Sep
PMID:Myasthenia gravis in a young Papuan woman. 805 51

The territory of the lateral branch of the posterior inferior cerebellar artery (1PICA) supplies the anterolateral region of the caudal part of the cerebellar hemisphere. Because infarcts in the territory of the 1PICA have rarely been studied specifically, 10 patients with this type of infarct are reported. An 1PICA infarct was isolated in only three patients, whereas it was associated with brainstem infarct in four, with occipital infarct in one, and with multiple infarcts in two patients. The most common symptom at onset was acute unsteadiness and gait ataxia without rotatory vertigo (six patients). Unilateral cerebellar dysfunction was found in all patients, with limb ataxia (nine patients), dysdiadochokinesia (five patients), and ipsilateral body sway (four patients), but dysarthria and primary position nystagmus were notably absent. In the patients with a coexisting infarct in the brainstem, cranial nerve and sensorimotor dysfunction was prominent and often masked the signs of cerebellar dysfunction. Unlike other infarcts in the PICA territory, 1PICA territory infarcts were mainly associated with vertebral artery atherosclerosis (six patients), whereas cardiac embolism was less common (three patients). Unilateral limb ataxia without dysarthria or vestibular signs suggests isolated 1PICA territory infarction and should allow its differentiation from other cerebellar infarcts.
J Neurol Neurosurg Psychiatry 1994 Sep
PMID:Infarcts in the territory of the lateral branch of the posterior inferior cerebellar artery. 808 72

Two cases of cerebral vasculitis of the central nervous system are reported. In our cases, systemic investigation found no underlying cause for vasculitis. Case 1: A 59-year-old female presented severe headache due to subarachnoid hemorrhage. CT scan obtained one month later demonstrated a low density area with ring-like enhancement in the right frontal lobe. A surgical specimen revealed inflammation of the leptomenigeal vessels with many lymphocytes. Case 2: A 64-year-old female came to us with dysarthria and slight left hemiparesis. CT scan and MRI obtained after admission demonstrated an abnormal mass lesion with enhancement in the right frontal lobe. The histological examination revealed vasculitis. After systemic disease and central nervous system infection were excluded, we diagnosed this case as cerebral vasculitis of unknown origin. In this paper, the clinical and pathological features of cerebral vasculitis and differential diagnosis were discussed.
No Shinkei Geka 1994 Sep
PMID:[Two cases of what was regarded as cerebral vasculitis]. 809 Feb 70


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