Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical and biochemical findings in a patient affected by chronic GM1 gangliosidosis, presenting as progressive dystonia and mental deterioration, are reported. The patient, a 13-year-old male, showed, at the age of 3 years, an impairment of gait with frequent falls, dysarthria and stuttering. At the age of 6, writing dystonia appeared and subsequently mental deterioration and dystonic postures of arms and legs became evident. The clinical features presented by this patient are similar to those shown by the cases of adult/chronic GM1 gangliosidosis previously reported, except for the early onset. This observation emphasizes the occurrence of dystonia as prominent symptom in chronic GM1 gangliosidosis, underlining that this disease must be considered in the diagnostic approach to the progressive dystonias of the early infancy.
 ...
PMID:Chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies in a new case. 835 22

We experienced two siblings of type 3 GM1 gangliosidosis. A 33-year-old woman developed dysarthria, dysbasia and bradykinesia at around the age of 30. Her 28-year-old brother showed locomotor retardation and skeletal deformity in infancy. He lost the ability to stand walk at childhood, and developed progressive dystonia. The major neurologic manifestations were parkinsonian symptoms in the elder sister, and progressive dystonia in her brother. Both had markedly reduced beta-galactosidase activity in peripheral blood lymphocyte and were diagnosed as having type 3 GM1 gangliosidosis. Gene analysis revealed that these patients were homozygotes of the adult type mutant gene. The two siblings are unique in that the clinical manifestations and the age of onset of symptoms differed markedly between them despite the same mutant gene in both cases.
 ...
PMID:[Two siblings of type 3 GM1 gangliosidosis with different clinical features and different ages of onset]. 840 83

The clinical correlates of "pure" pallidoluysian atrophy are not well described. A 59-year-old man presented with 20 years of progressive generalized dystonia, dysarthria, gait disorder, supranuclear vertical gaze palsy, and bradykinesia. At autopsy there was severe bilateral atrophy of the external pallidum and subthalamic nucleus with neuronal loss and marked gliosis. This syndrome may epitomize the consequences of "pure" pallidoluysian atrophy. In this case, dystonia appears to occur in the setting of decreased excitation (increased inhibition) of medial pallidal neurons, a pathophysiologic condition common to several hyperkinetic states.
 ...
PMID:Pallidoluysian atrophy: dystonia and basal ganglia functional anatomy. 841 28

This report describes a patient with degenerative type of progressive myoclonus epilepsy (PME), who showed slowly progressive deterioration of the central nervous system; intellectual impairment, dysarthria, and involuntary movements, particularly action myoclonus and dystonia. The patient was a 19-year-old woman who had no hereditary factors. At the age of 4, she developed action myoclonus in the upper limbs bilaterally. Her condition became gradually worse, and at the age of 15, she was admitted to our hospital because of involuntary movement in the upper limbs. First physical examination revealed mild mental retardation, action myoclonus, dystonia, and delayed adolescence. As giant SEP characteristic of PME and Ramsay Hunt syndrome was found, she was tentatively diagnosed as having Ramsay Hunt syndrome without epilepsy, and delayed adolescence. Now, she is 19 years old, and unable to walk alone because of involuntary movements and paralysis. But she has not developed epilepsy. As she has not been compatible with progressive myoclonus epilepsy (PME) and progressive myoclonic ataxia (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical PME syndrome.
 ...
PMID:[A case of degenerative type of progressive myoclonus epilepsy]. 841

Four patients with neurological Wilson's disease were investigated using magnetic resonance imaging (MRI) and positron emission tomography (PET). All patients had dystonia as their major clinical manifestation but also had dysarthria and at the presentation of the disease had choreoathetoid movements in at least one limb. A multitracer approach with PET was used to visualize various aspects of dopaminergic function; [11C]-(+)-nomifensine (NMF), [11C]raclopride (RAC) and [11C]-L-DOPA (one patient). Correlation analysis of RAC and NMF binding as well as putamen/caudate uptake ratios showed corresponding reductions. The patient investigated with [11C]-L-DOPA had a normal striatal uptake. Generally, structural changes as shown by MRI corresponded to reductions both in NMF and RAC binding. There was no evident correspondence between PET findings and the severity of clinical symptoms seen in the individual patient. In two patients with discrete neurological impairment at the time of investigation, PET showed serious presynaptic dopaminergic lesions in the putamen. Our data suggest that the striatal degeneration seen in Wilson's disease comprises a complex pathology involving both afferent and efferent projections. The discrete neurological impairment seen in some patients with gross striatal pathology might be due to concomitant lesions in functionally counteracting basal ganglia circuits.
 ...
PMID:Neurological Wilson's disease studied with magnetic resonance imaging and with positron emission tomography using dopaminergic markers. 855 11

Three siblings of a consanguineous parents with involuntary movements are reported. The mother had only a very slight neck tremor, without any other neurological abnormality, and the father had died. The 38-year-old son (Case 1) complained of involuntary movements at the age of 6. His involuntary movements were observed in the tongue, perioral region and upper and lower extremities: jerky movements with dystonic features. The 46-year-old elder brother (Case 2) experienced involuntary movements at the age of 18. Involuntary movements were observed in the upper extremities; he also had torticollis and tremulous movements in the neck, and jerky movements in the perioral region. They showed gait disturbance and dysarthria. The 35-year-old sister (Case 3) also experienced involuntary movements. When she was writing, her involuntary movements were obvious: dystonia and myoclonic jerks. Tremor in the neck was also seen. Their intelligence was below average. We concluded that this family had hereditary torsion dystonia, with myoclonus, and low intelligence. This condition may be associated with an autosomal recessive gene.
 ...
PMID:Hereditary non-progressive torsion dystonia with intellectual disturbance. 858 May 54

A 28-year-old man with Wilson's disease developed neurological deterioration after a low-dose of d-penicillamine treatment for 2 weeks. He showed an akinetic rigid syndrome with generalized dystonia. Brain magnetic resonance images (MRI) on T2 and proton weighted images showed an increased signal intensity over the thalamus, basal ganglia and brainstem, especially the midbrain and pons. After treatment had been changed to zinc sulphate, the akinetic-rigid syndrome and dystonia were improved slowly in the following 4 years. Serial MRI studies showed a gradual resolution of the lesions. His current neurological status was almost normal except for dysarthria and mild intention tremor.
 ...
PMID:Wilson's disease: resolution of MRI lesions following long-term oral zinc therapy. 874 Nov 47

Eight cases of clinically diagnosed corticobasal degeneration (CBD) were studied with reference to their symptomatology, brain-imagings and electrophysiological findings. The diagnosis was based on the combination of limb-kinetic apraxia (cortical sign), akinetic-rigid sign (extrapyramidal) and their unilateral predominance. Magnetic resonance imaging (MRI) and 123I-IMP or 99mTc-HMPAO SPECT findings were used to reinforce the diagnosis. The age at onset of 8 cases (4 males, 4 females) was 61 to 80 years (mean 66). Other common symptoms on admission consisted of dysequilibrium (8 cases), dysarthria (8), grasp reflex (6), supranuclear gaze palsy (6), tremor (6), limb dystonia (6) and alien limbs (5). MRI revealed parietal (3 cases) or frontoparietal (3) atrophy. SPECT showed decrease in cerebral blood flow in frontoparietal (3 cases) or frontoparietotemporal lobes (5). SPECT surpassed MRI to detect unilateral predominance of the lesions. With magnetic stimulation of the head and neck central motor conduction time (CMCT) was normal, while motor inhibitory periods (IPs) were significantly shorter in CBD patients compared with those in normal controls and the patients with Parkinson's disease. In 3 patients with reflex myoclonus, giant SEPs were not evoked, though with positive C-reflex, suggesting an elevated excitability of cerebral cortex unrelated to the production of giant SEPs.
 ...
PMID:[Corticobasal degeneration: symptomatological, brain-imaging and electrophysiological studies]. 875 30

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that is generally considered to be nonfamilial. We report a brother and sister with clinical and pathologic findings characteristic of PSP. Both developed parkinsonism in the eighth decade of life and within 5 years exhibited severe postural instability, bradykinesia, rigidity, dystonia, dysarthria, dysphagia, urinary incontinence, pseudobulbar palsy, and supranuclear oculomotor dysfunction but no tremor. Neither responded to levodopa and/or carbidopa. Their mother and, possibly, maternal grandfather reportedly suffered from a parkinsonian syndrome. Essential tremor occurred in the siblings' father and in two of the brother's three children. Autopsy in the brother at age 81 years and sister at age 79 years revealed changes typical of PSP with atrophy and neurofibrillary tangles in the globus pallidus, subthalamic nucleus, and rostral tegmental brainstem. No Lewy bodies were present. These cases are the first pair of relatives reported with autopsy confirmation of PSP in both and raise the question of genetic predisposition to PSP.
 ...
PMID:Autopsy-proven progressive supranuclear palsy in two siblings. 878 66

Progressive supranuclear palsy (PSP) is a distinct clinicopathological syndrome described by Steele, Richardson and Olszewski in 1964. Its clinical features include supranuclear ophthalmoplegia, pseudobulbar palsy, dysarthria, nuchal dystonia, and dementia. The neuropathological changes are characteristic and include cell loss, gliosis, and neurofibrillary degeneration in the basal ganglia, brain stem and cerebellum. But, all these clinical features are not present in the early stage and diagnosis of PSP is sometimes difficult. Atypical presentation of PSP includes the case without ophthalmoplegia, with markedly dementia, or pure akinesia. Pure akinesia presents freezing of gait, handwriting and speech without rigidity or tremor, and can be the initial and early symptom-complex of PSP.
 ...
PMID:[Progressive supranuclear palsy]. 901 35


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>