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)

Neurological, auditory, vestibular and ocular motor examinations were performed on 3 definite and 3 possible heterozygous carriers of a previously described X-linked multi-system disorder with early childhood onset, rapid progression and a fatal outcome (Arts et al., 1993). The symptoms, i.e., delayed motor development, ataxia, hearing loss and subnormal intelligence, were so evident in 2 of the possible carriers that they could be redesignated as probable carriers. Other symptoms in the definite and probable carriers were clubfeet, dysarthria, intention tremor and abnormal gait, while their signs included dysdiadochokinesia, ataxic paraplegia, abnormal muscle tendon reflexes and extensor plantar responses. All the symptomatic carriers developed moderate-to-severe sensorineural hearing loss with normal stapedial reflexes and brain stem auditory evoked potentials (BAEPs) in those in whom this could be evaluated. Speech discrimination was disproportionally poor unilaterally in one case from whom no BAEPs could be obtained because of her degree of hearing loss. Various combinations were found of high gain of the vestibulo-ocular reflex, spontaneous nystagmus and directional preponderance of vestibularly evoked nystagmus, slowing, hypometria or multi-stepping of saccades, saccadic intrusions of eye movements (macro square wave jerks, double saccadic pulses), impairment of smooth pursuit eye movements and optokinetic nystagmus, and failure of visual fixation suppression of vestibularly evoked nystagmus. Such findings indicate major involvement of the (vestibulo)cerebellum and the vermis. MRI in one carrier showed mild cerebellar atrophy.
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PMID:Multi-system signs and symptoms in X-linked ataxia carriers. 886 31

It is estimated that 10-20% of patients with multiple sclerosis (MS) have a chronic progressive (CP) course characterized by an insidious of neurological deficits followed by steady progression of disability in the absence of symptomatic remission. No therapeutic modality has shown specific efficacy in the treatment of patients with CP MS and there are no data to indicate that any pharmacologic or other modality alters the clinical course of CP MS. Treatment with picotesla electromagnetic fields (EMFs) is a highly effective modality for the symptomatic management of MS including the chronic progressive form. In addition, this treatment also appears to alter the natural course of the disease in CP patients. A 36 year-old man experienced, at the age of 31, insidious weakness in the legs and several months later developed difficulties with balance with ataxia of gait. His gait abnormality progressed slowly over the following years and at the age of 35 he was severely disabled with spastic paraparesis and ataxia using a rolling walker for ambulation and a scooter for longer distances. In particular, his disability had progressed rapidly over the six months preceding the initiation of treatment with EMFs. He as classified have CP MS and his prognosis was considered extremely unfavorable due to the degree of cerebellar and pyramidal tract involvement and the rapid course of deterioration. In July 1995 the patient began experimental treatment with EMFs. While receiving three treatment sessions a week over 12 months he experienced improvement in cerebellar functions such as gait, balance and tremor as well as bowel and bladder functions, mood, sleep and cognitive function and resolution of diplopia, blurring of vision, dysarthria, paresthesias in the hands, and fatigue. Most remarkably, there was no further progression of the disease during the course of magnetic therapy. This case illustrated that treatment with EMFs, in addition to producing symptomatic improvement, also reverses the clinical course of CP MS.
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PMID:Treatment with electromagnetic field alters the clinical course of chronic progressive multiple sclerosis--a case report. 900 66

We report a patient with known asymptomatic pulmonary alveolar proteinosis (PAP) who developed a cerebellar gait disorder and dysarthria caused by an isolated cerebellar nocardial abscess. To our knowledge only 1 patient with PAP and isolated central nervous system nocardia infection has previously been reported. In this early report, diagnosis was established at autopsy. In our patient the clinical and MRI examinations of this cerebellar abscess are described and specific features leading to earlier diagnosis and successful treatment are presented.
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PMID:Primary cerebellar nocardiosis and alveolar proteinosis. 951 65

A review of all published cases of iatrogenic Creutzfeldt-Jakob disease (CJD) via dural (N=71) and corneal (N=4) transplants is given. All but three of the dural cases were obviously due to a commercial product recalled in 1996. Two of the corneal grafts were taken from patients who had died of sporadic CJD. These cases differed from CJD due to human growth hormone injections and the new variant. Instead. they were akin to sporadic cases, but memory loss, disorders of higher cerebral functions and extrapyramidal signs were fewer, while cerebellar abnormalities were more frequent. Progressive dysarthria and gait disorder/gait ataxia were prominent signs during the early stages, myocloni the most salient feature later. A nonperiodic EEG did not contradict the diagnosis. Using current diagnostic criteria the disease was underdiagnosed ante mortem. Utmost care is needed in selecting, harvesting and handling dural and corneal grafts to avoid inadvertent transmission of CJD.
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PMID:Creutzfeldt-Jakob disease via dural and corneal transplants. 984 95

Friedreich's ataxia (FRDA) is the most frequent cause of recessive ataxias. Neurological examination shows oculo-motor ataxia, dysarthria, limbs ataxia, tendon areflexia, pyramidal signs and sensory deficits. Extra-neurological involvement consists in osteoarticular deformities, cardiomyopathy and diabetes mellitus. Neurological deficits and osteoarticular deformities both contribute to the gait disorder, which is the main disabling deficit. In 98% of the cases, a trinucleotide repeat is found in chromosome 9. Gene implicated in FRDA codes for a protein called frataxin. Experimental studies have revealed iron accumulation in mitochondria of neurons and cardiomyocytes, suggesting that frataxin plays a determinant role in intramitochondrial iron homeostasis. These discoveries are now considered as a clue for new strategies of treatment in this hereditary disease.
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PMID:[Friedreich's ataxia: recent developments and prospects for treatment]. 1033

Mercury exists in various chemical forms. The important forms from a toxicological viewpoint are the metallic form, also called the elemental form, the divalent inorganic forms and methylmercury compounds. Elemental (Hg0) mercury has a high vapor pressure and the vapor causes a number of cases of poisoning via inhalation. Classical mercury poisoning is characterized by a triad of signs, namely tremors, erethism and gingivitis. Mercurial erethism, which is characterized by behavioral and personality changes such as extreme shyness, excitability, loss of memory, and insomnia are also observed. Recently, the effects of mercury exposure at levels around 0.05 mg/m3 or lower have been of concern and may include minor renal tubular damage, increased complaints of tiredness, memory disturbance and other symptoms, subclinical finger tremor, abnormal EEG by computerized analysis and impaired performance in neurobehavioral or neuropsychological tests. Abnormal gait, dysarthria, ataxia, deafness and constriction of the visual field are typical of the symptoms of methylmercury poisoning observed in Minamata and Iraqi outbreaks, as well as in occupational methylmercury poisoning cases. Furthermore, an infant born to a mother with excessive methylmercury consumption showed various neurological disturbances and delayed development. Since several populations are believed to be still exposed to methylmercury through the consumption of fish and sea mammals, neurobehavioral deviations in children of these populations have recently been investigated.
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PMID:Occupational and environmental toxicology of mercury and its compounds. 1081 38

Although visual disturbance is recognized as a clinical feature of Creutzfeldt-Jakob disease (CJD), lesions within the retina have to date, recorded little attention. In this single case study, we report a case of retinopathy observed in a 72-year-old female patient with CJD. The patient admitted to the hospital complaining of a 2-month history of visual disturbance, dysarthria, and gait disorder. Electroencephalogram showed periodic synchronous discharges synchronizing with myoclonic jerks. Electroretinogram (ERG) using single bright flash in a dark-adapted state demonstrated the absence of b-wave in both eyes. One month later, ERG could no longer record a-wave of the right eye. The absence of b-wave on ERG indicated a disorder within the inner layer of the retina, furthermore lesions detected in the occipital lobe were considered too mild to have elicited such visual disorder. We further conclude that retinopathy may be found in CJD and can progress in retrograde from ganglion cells to photoreceptors. Although the frequency of retinopathy among the CJD population is unclear, detailed clinical observation and analysis of ERG in patients with visual disorders of unknown cause is extremely important for both the screening and exclusion of CJD.
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PMID:[A probable case of Creutzfeldt-Jakob disease with electroretinogram alterations]. 1256 Oct 85

Deficiency of enzyme acid beta-galactosidase causes GM1 gangliosidosis. Patients with adult GM1 gangliosidosis typically present with generalized dystonia. We describe clinical, bone marrow, and radiological features of adult GM1 gangliosidosis to help improve its recognition. We report 3 Indian patients and review of reports between 1981 and October 2002. The disease frequently is reported in the Japanese literature (75%). Patients are normal at birth and have normal early motor and mental development. Onset is within the first decade with abnormal gait, or worsening of speech is an initial symptom. Dystonia occurs in 97% of patients. Facial dystonia described as "facial grimacing" observed in approximately 90% could be an important clinical clue. Dysarthria/anarthria (97%) is frequent, and eye movements are normal. Bone marrow examination may show Gaucher-like foam cells (39%). Magnetic resonance imaging (MRI) frequently (90.9%) shows bilateral symmetrical putamenal hyperintensities on T2-weighted and proton density images. Diagnosis is confirmed by demonstrating deficiency of beta-galactosidase. Adult (Type 3) GM1 Gangliosidosis commonly presents with generalized dystonia with prominent facial dystonia, severe speech disturbances, and normal eye movements. Bone marrow frequently shows Gaucher-like foam cells. MRI shows typical lesions in the putamen. Deficiency of beta-galactosidase in fibroblasts confirms the diagnosis.
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PMID:Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. 1538 93

We describe the clinical and neuroimaging features of 6 drug-abuse patients with self-inflicted manganese poisoning. The patients injected a home-brewed mixture called "ephedrone" (slang term) that contained manganese to produce an amphetamine-like euphoria. The desired chemical product, phenylpropanoneamine (also called methcathinone), was synthesized from a common-cold-remedy compound using permanganate as the catalyst. Manganese was a by-product in the ephedrone mixture. After months of self-injections, a clinical picture emerged, consisting of apathy, bradykinesia, gait disorder with postural instability, and spastic-hypokinetic dysarthria. There was no response to levodopa. The MRI revealed symmetric hyperintense T1-weighted signals in the basal ganglia, typical of manganese accumulation.
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PMID:Manganic encephalopathy due to "ephedrone" abuse. 1756 21

The concurrence of amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) is extremely rare. We report on a 55-year-old female patient presenting with a progressive gait disorder for 6 months and a speech disorder for 3 months. Neurological examination revealed a spastic paraparesis and mild dysarthria and dysphagia. Technical and laboratory investigations met the diagnostic criteria for MS: magnetic resonance imaging showed multiple periventricular white matter and cervical lesions; cerebrospinal fluid showed a typical autoimmune response. Within the following 3 months generalized fasciculations, atrophy of the small hand muscles and bulbar signs were noticed. Nerve conduction studies revealed acute and chronic signs of denervation in all limbs without nerve conduction block. Hence clinical and paraclinical examination met the El Escorial criteria for ALS. Although myelitic lesions in the anterior horn cells may lead to peripheral segmental denervation, the generalized denervation suggested the unusual coincident combination of ALS and MS in this patient. In clinical praxis motoneuron diseases should also be considered in patients with pronounced peripheral denervations once "definite" MS has been diagnosed.
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PMID:[Simultaneous presentation of amyotrophic lateral sclerosis and multiple sclerosis]. 1787 78


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