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)

The authors report the case of an 8 year-old boy who, when he was 2 1/2 years old, suffered from spasmodic mouth twitches. At the age of four, various other symptoms appeared: psychomotor backwardness, frequent fails and a photomyoclonic response on electroencephalogram. At the age of 5 1/2, noticeable difficulties appeared in walking with a broad-based gait, hypotonia, and intentional trembling associated with hypokinesia and dysarthria. When he was six, the first convulsive seizure appeared, then myoclonies which became continuous. The child gradually became bedridden. The family history tends to show these disorders can be linked with a Huntington chorea affecting six generations. This case is very similar to that previously described by the authors, in an 8 year-old girl where an anatomic examination revealed the existence of lesions characteristic of Huntington's disease associated with lesions of the cerebellum. The authors, on the basis of the data provided by the literature, discuss the myoclonic and cerebellous aspect of this infantile form. Lacking anatomic evidence, they stress the interest of the biochemical disturbances affecting the cerebral monoamines noted in this observation.
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PMID:[Myoclonic type of Huntington's chorea (author's transl)]. 14 49

Two adult Ashkenazi Jewish siblings have had slowly progressive deterioration of gait and posture since early childhood, distal to proximal muscle atrophy, pes cavus, foot drop, spasticity, mild ataxia of limbs and trunk, dystonic features, and dysarthria. Vision and optic fundi are normal, verbal intelligence is stable, and no seizures have occurred. The sister of the patients died at 16 years of age with the same illness. Autopsy showed diffuse neuronal storage, predominating in subcortical areas, consisting of membranocytoplasmic bodies, zebra bodies, and complex lamellar structures. GM2 ganglioside was increased in her brain. Hexosaminidase A was decreased in serum and leukocytes of the living patients, and was in the range for carriers of Tay-Sachs disease in their parents. The disease found in this family represents a new, more indolent variant of GM2 gangliosidosis.
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PMID:Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. 17 70

An unusual neurovisceral lipid storage disorder in two unrelated juvenile patients manifested itself by dystonia and involuntary movements, with facial grimacing, dysarthria, gait difficulty, and impaired manual dexterity. Supranuclear paresis of vertical gaze and splenomegaly were present. Absent were seizures, major intellectual deterioration, spasticity, or blindness. Histiocytes showed lysosomal storage of various phospholipids, cholesterol, neutral lipids, and autofluorescent material. Appendiceal neurons showed only an increse of phospholipids by histochemistry. Neuronal deposits differed ultrastructurally from these in histiocytes. Leukocyte sphingomyelinase activity was normal. The nosology of this disease and its relationship to so-called juvenile types of Niemann-Pick disease is discussed. The primary metabolic defect in these patients remains unknown.
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PMID:Juvenile dystonic lipidosis: an unusual form of neurovisceral storage disease. 18 51

Paroxysmal symptoms of frequent recurrence and short duration occurring mostly unilaterally and without loss of consciousness have been described under a vast variety of headings. Brain stem origin of these symptoms was presumed. Electroencephalographic recordings usually did not show any paroxysmal discharges. 328 patients were found in the available literature including 9 patients of ours. The seizures were classified by their appearance. Tonic or dystonic, sensory, algetic, ataxic and akinetic-atonic fits were distinguished. The dystonic variety includes the "paroxysmal kinesiogenic choreoathetosis". The "paroxysmal dysarthria and ataxia" was subsumed under the ataxic type. By etiology, seizures were grouped into the cryptogenic and the symptomatic type. The symptomatic variety is frequently caused by multiple sclerosis, and rarely by tumours of the basal ganglia or by vascular disorders. Cranial computertomography showed subcortical lesions in three out of seven patients. In one case cerebral atrophy was found. All types of seizures respond very well to antiepileptic drugs. The prognosis is favourable with the cryptogenic type and unfavourable with the symptomatic variety depending on the underlying disease.
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PMID:[Brain stem seizures (author's transl)]. 25 39

The cases presented with psychic troubles and repeated somnolence episodes accompanied by dysarthria in 5 cases, myoclonic jerks in 4 cases and epileptic seizures in 1 case. In all cases the EEG was disturbed. It showed symetrical, paroxystic, bilateral, monomorph slow activity with more or less frequent paroxysms. The average serum aluminium level was at 407 microgram/l in the acute phase, at 161 microgram/l in the remission phase and at 123 microgram/l three months later. After interruption of oral and dialytic aluminium intake the remission is maintained. However in 2 cases the transitory readministration of aluminium gel was followed by reversible recurrency. The role of both aluminium gel and dialysate aluminium as the origin of encephalopathy is discussed.
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PMID:[Reversible dialytic encephalopathy after interruption of aluminium intake. 6 cases (author's transl)]. 49 78

The observation in 14 dialysis patients of an encephalopathy associating myoclonia, dysarthria, generalised seizures in some cases, worsening over a few months, led to an aetiological inquiry based upon comparative study of patients with or without encephalopathy treated in the same centre or at home, and controls. Higher levels of aluminium were found in the frontal cortex grey matter of encephalopathy patients as compared to the control group. The same applies to manganese in the white matter. Copper, zinc and iron contents were not different. Aluminium levels in blood, dialysis bath and tap water supply were higher in center dialysis than in home dialysis. Blood aluminium levels at the end of hemodialysis were correlated with bath aluminium levels. The ingestion of alumine gels was not greater in the encephalopathy patients than in other hemodialysis patients; its estimation, in each case, was not related to the blood aluminium levels at the begining of hemodialysis. These finding indicate the need of a routine measure of metal content - mainly aluminium and manganese - in tap water used for dialysis, in order to treat this water if necessary.
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PMID:[Progressive myoclonic encephalopathy in dialysis patients. The role of the water used for haemodialysis (author's transl)]. 65 14

"Fahr's Disease" is characterized by bilateral and symmetrical calcifications of the Globus Pallidus (systematically extending to the Commisura Anterior and the Capsula Interna, and less commonly to the Putamen, the Centrum Semi-Ovale and the Cerebral Cortex), and of the Cerebellar Nucleus Dentalus (with spreading to the White Matter and the Cortical Lamellae). Lesions or absence of Parathyroids are frequently related, with subsequent metabolic disorders of Phosphorus and Calcium, but idiopathic cases without hypoparathyroid disturbances are also found. A Morgagni-Morel Hyperostosis Frontalis Interna is often associated with "Fahr's Disease", and there could be a relationship between these two affections. We found in three cases the association between "Fahr's Disease" and Morel's Nodular Dysgenesis of the Frontal Cortex. Most of the cases are sporadic, but observations with a clear familial incidence are also found. Clinically, various Neurological Disorders (cerebellar, extrapyramidal, pyramidal, dysarthria, epileptic seizures) are often but not always observed; the Psychiatric Disorders found in some cases could be fortuitious associations (psychoses), connected to hypothyroidism (oligophrenia), and in aged patients, to unrelated cerebral vascular or degenerative lesions; very seldom, a dementing state could be connected to the spreading of calcifications to the Cerebral Cortex.
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PMID:[Pallido-dentate calcifications (apropos of 7 anatomo-clinical case reports)]. 69 68

Paroxysmal syndromes do not occur frequently in the course of multiple sclerosis, but require diagnostic considerations of particular nature. The pathogenesis and clinical aspects of a) cerebral convulsions, b) (usually appearing unilaterally) tonic brain stem seizures, c) narcoleptic attacks, d) hemiballismus, e) acute attacks of vertigo, f) paroxysmal dysarthria, g) trigeminal neuralgia are discussed.
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PMID:[Paroxysmal syndromes in multiple sclerosis (author's transl)]. 82 88

Twenty-two out of 235 patients with undoubted or suspected MS, treated at the Neurological Clinic, Uppsala, during the eight-year period, 1966-1973, had paroxysmal symptoms during the course of their disease. Paroxysmal dysarthria and ataxia (7 cases), and tonic seizures (5 cases) were the most common types of attacks. Some types of attacks (paroxysmal hemiataxia and crossed paraesthesiae, paroxysmal itching, diplopia as the single, paroxysmal symptom) do not seem to have been described previously. A patient with tonic seizures caused by a localized, traumatic lesion of the cervical spinal cord is also described. It is suggested that the paroxysmal phenomena in MS are caused by a transversely spreading ephaptic activation of axons within a partially demyelinated lesion in fibre tracts somewhere in the central nervous system. The different paroxysmal phenomena are discussed in the light of this hypothesis.
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PMID:Paroxysmal attacks in multiple sclerosis. 114 14

Nine cases of multiple sclerosis with paroxysmal disorders were treated with acetazolamide. In most cases a brain-stem origin of the seizures was suggested by their particular pattern: crossed syndromes (facial spasm associated with contralateral weakness of the arm and leg, paroxysmal paraesthesiae in one side of the face and weakness of the contralateral leg), paroxysmal dysarthria, and ataxia. One patient with a Brown-Sequard syndrome complained of paroxysmal paraesthesiae in the lower limbs, for which a spinal origin was admitted. In all patients the paroxysmal disorders were promptly suppressed or markedly reduced by acetazolamide.
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PMID:Treatment with acetazolamide of brain-stem and spinal paroxysmal disturbances in multiple sclerosis. 115


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