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 comprehensive profile of communicative disorders in patients with Moebius syndrome was attempted. Seven patients were evaluated by the authors and the findings were added to 15 contributed case-histories. Most patients demonstrated some degree of dysarthria due to congenital paralysis of the facial nerves. Other problems such as cleft palate, hearing loss, mental retardation and delayed development of language were found in a few of the patients. As most of the older children in the sample and in reports in the literature eventually developed intelligible speech, a program of oral language stimulation and compensatory articulatory adjustments would appear to be the procedure of choice.
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PMID:Speech, language and hearing in Moebius syndrome: a study of 22 patients. 20 1

The Troyer syndrome was found by Cross & McKusick (1967) in 20 members of 12 Old Order Amish families in Holmes County, Ohio; it is a form of hereditary spastic paraplegia combined with distal muscle wasting, i.e. signs of involvement of lower motor neurons. The condition usually begins at 1 to 2 years and progresses at variable rates. Further manifestations include growth retardation, delayed speech development with dysarthria and drooling, and cerebellar signs; mental functions are usually not affected but severe emotional lability is a common finding. Brothers in a Wisconsin Old Order Amish family are reported with spastic diplegia, mental retardation, behavioral disorder and shortness of stature; the condition apparently is not progressive, and may be a "new" syndrome but could also represent a variant of the Troyer syndrome. Autosomal recessive inheritance is most likely, although consanguinity of the parents could not be proven. Another child in this family suffers from focal scleroderma (morphea) which is not related to the neurological syndrome.
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PMID:Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome. 126 Oct 70

We restudied a family with X-linked mental retardation (XLMR) originally reported in abstract form by Davis et al. [1981]. All 8 living affected males were examined. Characteristics included severe mental retardation, spastic paraplegia, dysarthria, muscle wasting, scoliosis, broad shallow pectus excavatum, long face, large ears with minor modeling anomalies, foot deformities, joint contractures, and neck drop. Stature, OFC, testicular volume, high resolution chromosome and fragile X studies, and plasma amino acids were all normal. Their manifestations closely resemble those of a large family with XLMR originally reported by Allan et al. [1944] and restudied by Stevenson et al. [1990]. This condition has been termed the Allan-Herndon-Dudley syndrome (AHDS). As AHDS has been mapped to Xq21, mapping studies were undertaken to determine if this family maps to the same location. These studies demonstrate tight linkage to Xq21, with a maximum lod score of 2.88 obtained with probe pX65H7 (DXS72). Multipoint analysis located the mutant gene quite close to pX65H7 (multipoint Z = 4.14), slightly more proximal in Xq21 than was suggested by the data from the original AHDS family. It appears likely that this family is the second reported family with AHDS.
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PMID:Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. 160 31

A 40-year-old man was hospitalized for tremor of the right upper limb, gait disturbance and dysarthria. His course of development had been normal until the age of 14, when difficulties in speaking and walking, and tremor of the upper limb became evident following an episode of fever. His symptoms have been gradually worsening for the past 25 years. His elder sister showed similar clinical symptoms and progressive course of illness. The patient showed no indication of mental retardation. Neurological examination showed dysarthria, slow dyskinetic movement of the tongue, dystonic posture of the left hand, tremor of irregular frequency of the right upper limb, diminished tendon reflex, positive Romberg's sign, diminished vibratory and position sense in the lower limbs and pyramidal signs. Cystometry indicated defective voiding of the bladder. Magnetic resonance imaging of the brain showed bilateral atrophy of the putamina, globus pallidus, caudate nuclei and substantia nigra. MRI showed similar findings in her sister. By electrophysiological and pathological examination, disorders of other systems were evident, such as upper motor neurons, and sensory tract. GM1 and GM2 gangliosidosis appeared the most likely diagnosis, but were ruled out on the basis of the result of lysozomal enzyme assay and rectal biopsy. The present patient's condition may possibly be the result of an unknown metabolic disorder, or a new disease entity affecting various components of the nervous system.
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PMID:[Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI]. 176 49

A case of adult Moyamoya disease, with formation of a transcranial external carotid-internal carotid (EC-IC) anastomosis through burr holes which had been made previously. A 43-year-old male suffered sudden headache and vomiting. Neurological examination revealed mild consciousness disturbance and dysarthria. The computed tomography (CT) scans showed intraventricular hemorrhage, which was drained through burr holes bifrontally. The diagnosis of Moyamoya disease was subsequently made by cerebral angiography. A month later he was discharged with mild gait disturbance and mental retardation. Seven years later he suddenly complained of gait disturbance, dysarthria and sensory disturbance involving the right upper extremity. A CT scan revealed a small hemorrhage in the left putamen. Carotid angiograms disclosed transcranial EC-IC anastomosis through the burr holes which had been made previously. It is suggested that revascularization can be expected after opening burr holes and incising the dura matter for Moyamoya disease in adults as well as, possibly, in children.
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PMID:[Adult moyamoya disease with a transcranial internal carotid-external carotid (EC-IC) anastomosis through burr holes]. 237 49

The authors report a patient affected with mental retardation, dysarthria, bilateral testicular hypoplasia and extensive ulcers of the lower limbs. Clinical study and laboratory tests revealed 48,XXYY syndrome. The authors confirm the importance of differential diagnosis from Klinefelter syndrome, illustrating the parameters and the pathology of both syndromes. They discuss the hypotheses concerning the pathogenesis of the ulcerations, and stress the importance of clinical and genetic characterization, leading to a differentiated prognosis of social capacity and prospect of working.
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PMID:A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. 238 88

A large family with X-linked mental retardation, originally reported in 1944 by Allan, Herndon, and Dudley, has been reinvestigated. Twenty-nine males have been affected in seven generations. Clinical features include severe mental retardation, dysarthria, ataxia, athetoid movements, muscle hypoplasia, and spastic paraplegia with hyperreflexia, clonus, and Babinski reflexes. The facies appear elongated with normal head circumference, bitemporal narrowing, and large, simple ears. Contractures develop at both small and large joint. Statural growth is normal and macroorchidism does not occur. Longevity is not impaired. High-resolution chromosomes, serum creatine kinase, and amino acids are normal. This condition, termed the Allan-Herndon syndrome, appears distinct from other X-linked disorders having mental retardation, muscle hypoplasia, and spastic paraplegia.
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PMID:Allan-Herndon syndrome. I. Clinical studies. 203 42

Case S.S. 59 years of age, male. At the age of 25, he had admitted to sanatorium for 7 years because of pulmonary tuberculosis. After his discharge, at the age of 45, he had started complaining of depressive mood or the idea of suicide and admitted to a mental hospital. Psychiatric diagnosis was depression and slight mental retardation. Shortly after, his depressive mood was improved, but his hypochondriac attitude was unchanged. No tendency toward dementia was proven. At the age of 54, he became enable to walk. Neurologically, pyramidal and some sort of extrapyramidal signs, dysarthria, disturbance of swallowing, fecal and urinary incontinence became apparent. Laboratory data showed scarcely any abnormality. At the age of 59, he died of bronchopneumonia. Neuropathologically, moderate degeneration of dentate nucleus, slight degeneration of pyramidal tract from medulla oblongata to spinal cord, striatum, substantia nigra were found. Neither senile plaques nor neurofibrillary changes could be seen throughout central nervous system. The most important finding is the presence of peculiar acidophilic bodies. They are round or oval, 10 approximately 20 mu in diameter and distributed in dentate nucleus, oculomotor nucleus, central grey of midbrain, superior colliculus, putamen, pallidum, subthalamic nucleus, Zona incerta, hypothalamus, Locus coeruleus, reticular formation of midbrain and pons, pontine nucleus, raphe nucleus, vestibular nucleus, inferior olive in order of number of the bodies. These bodies are scattered in so-called ground substance, and have no relations to any cell bodies or cell processes.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case with peculiar acidophilic bodies in the dentate nucleus and brain stem, associated with degeneration of the pyramidal-extrapyramidal systems]. 241 58

We studied 5 boys, 2 to 10 years old, with marked or complete deficiency of hypoxanthine-guanine phosphoribosyltransferase and Lesch-Nyhan syndrome with varying degrees of mental retardation, dysarthria, chorea, dystonia, spasticity, and ataxia. Four patients had marked reduction of homovanillic acid in the cerebrospinal fluid (CSF) and all showed low CSF 3-methoxy-4-hydroxy phenylethylene glycol, indicating reduced dopamine and norepinephrine turnover. Three patients showed high CSF 5-hydroxyindoleacetic acid, suggesting increased serotonin turnover. Some patients improved with carbidopa-levodopa, but others benefited from tetrabenazine, a monoamine-depleting agent. This study provides support for the theory of abnormal central monoamine metabolism in Lesch-Nyhan syndrome.
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PMID:Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. 245 72

Cerebral palsy is a permanent and non-progressive brain damage due to various causes affecting a child from the intrauterine life up to the first two years of life. Its most common cause is neonatal hypoxic encephalopathy. The cerebral damage is diffuse so that it is commonly associated with epilepsy, mental retardation, dysarthria, hearing loss and oculomotor abnormalities. Strabismus is found in 50% of children with cerebral palsy. This prevalence is significantly different from the 2% incidence of oculomotor abnormalities in the pre-school age, it is noteworthy that strabismus and refractive errors respond to the classical therapeutic measures.
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PMID:[Physiopathology of ocular movements in infantile cerebral paralysis]. 270 64


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