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)

Myasthenia gravis is a rare, chronic, autoimmune disorder characterized by postsynaptic dysfunction at the neuromuscular junction. The disease affects more females than males. We describe the case of a 17-year-old female adolescent with recurrent episodes of dysarthria and dysphagia and a history of aspiration pneumonia. A bedside edrophonium (Tensilon) test in our emergency department confirmed the diagnosis of myasthenia gravis.
 ...
PMID:Myasthenia gravis in an adolescent patient presenting to the pediatric emergency department. 2045 93

Dysphagia is a frequent and early symptom in progressive supranuclear palsy (PSP) predisposing patients to aspiration pneumonia. Fiberoptic endoscopic evaluation of swallowing (FEES) has emerged as a valuable apparative tool for objective evaluation of neurogenic dysphagia. This is the first study using FEES to investigate the nature of swallowing impairment in PSP. Eighteen consecutive PSP patients (mean age 69.7 +/- 9.0 years) were included. The salient findings of FEES in PSP patients were compared with those of 15 patients with Parkinson's disease (PD). In 7 PSP patients, a standardized FEES protocol was performed to explore levodopa (L-dopa) responsiveness of dysphagia. Most frequent abnormalities detected by FEES were bolus leakage, delayed swallowing reflex, and residues in valleculae and piriformes. Aspiration events with at least one food consistency occurred in nearly 30% of PSP patients. Significant pharyngeal saliva pooling was observed in 4 PSP patients. We found no difference of salient endoscopic findings between PSP and PD patients. Endoscopic dysphagia severity in PSP correlated positively with disease duration, clinical disability, and cognitive impairment. No correlation was found with dysarthria severity. In early PSP patients, swallowing dysfunction was solely characterized by liquid leakage with the risk of predeglutitive aspiration during the oral phase of swallowing. Two PSP patients showed relevant improvement of swallowing function after L-dopa challenge. Chin tuck-maneuver, hard swallow, and modification of food consistency were identified as the most effective therapeutic interventions. In conclusion, FEES assessment can deliver important findings for the diagnosis and refined therapy of dysphagia in PSP patients.
 ...
PMID:Endoscopic characteristics and levodopa responsiveness of swallowing function in progressive supranuclear palsy. 2062 30

Myasthenia gravis is often difficult to diagnose and treat in older subjects due to complications, previous history and reciprocal interaction with drugs used to treat complications. An 84-year-old woman with slowly progressive 2-year dysphagia and dysarthria had reached critical condition with aspiration pneumonia. She was diagnosed with thymoma-free myasthenia gravis and her respirator removed after being administrated an anticholinesterase drug. Her dysphagia and dysarthria did not improve. Because of severe osteoporosis with two previous lumbar compression fractures and excessive thinness, she could not be given prednisolone or immunosuppressive drugs. Following cricopharyngeal myotomy and bilateral lateral palatopharyngeal wall narrowing, she could eat without misdeglutition and speak clearly.
 ...
PMID:[Dysphagia and dysarthria surgery for advanced-age myasthenia gravis]. 2106 68

We report a case of primary diffuse leptomeningeal gliomatosis (PDLG) in a 76-year-old male presenting with confusion, dysarthria, diplopia, lumbal pain and headaches of recent onset. Neurological examination revealed nuchal rigidity and bilateral sixth cranial nerve palsy. The cerebrospinal fluid showed a marked hyperproteinorachia (4711 mg/L) and mild cytorachia (5-10 leucocytes/mm3) with a few atypical lymphoid cells. On admission, brain CT scan and MRI demonstrated diffuse and nodular leptomeningeal contrast enhancement predominant at the skull base and several osteolytic lesions in the right parietal bone. Extensive serological studies for infectious, autoimmune or neoplastic diseases were negative. The work-up diagnosis was neurosarcoidosis or multiple meningeal and osseous metastases of an unknown primary cancer. Surgical biopsy of the right parietal bone lesion showed only fibrous tissue with no evidence of tumour or inflammation. The patient was treated with high dose corticosteroids but its neurological status progressively worsened and he died of aspiration pneumonia 35 days after admission. Post-mortem examination revealed a PDLG, a rare fatal tumour with about 60 cases reported. PDGL is characterized by the diffusion of neoplastic glial cells throughout the leptomeninges without evidence of a primary intra-parenchymal lesion. Recognition of this rare brain tumour is important as recent reports suggest that radiotherapy and chemotherapy can improve patient survival.
 ...
PMID:Primary diffuse leptomeningeal gliomatosis: an autopsy case and review of the literature. 2130 63

Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the NPC1 gene (in 95% of cases) and the NPC2 gene (in approximately 4% of cases) give rise to impaired intracellular lipid metabolism in a number of tissues, including the brain. Typical neurological manifestations include vertical supranuclear gaze palsy, saccadic eye movement abnormalities, cerebellar ataxia, dystonia, dysmetria, dysphagia and dysarthria. Oropharyngeal dysphagia can be particularly problematic as it can often lead to food or fluid aspiration and subsequent pneumonia. Epidemiological data suggest that bronchopneumonia subsequent to food or fluid aspiration is a major cause of mortality in NP-C and other neurodegenerative disorders. These findings indicate that a therapy capable of improving or stabilising swallowing function might reduce the risk of aspiration pneumonia, and could have a positive impact on patient survival. Miglustat, currently the only approved disease-specific therapy for NP-C in children and adults, has been shown to stabilise key neurological manifestations in NP-C, including dysphagia. In this article we present findings from a systematic literature review of published data on bronchopneumonia/aspiration pneumonia as a cause of death, and on the occurrence of dysphagia in NP-C and other neurodegenerative diseases. We then examine the potential links between dysphagia, aspiration, pneumonia and mortality with a view to assessing the possible effect of miglustat on patient lifespan.
 ...
PMID:Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. 2303 66

BACKGROUND The body of literature on oral motor and swallowing disorders in patients with ataxia telangiectasia (AT) is limited. CASE REPORT The purpose of this study was to characterize oral motor and swallowing disorders in two siblings with AT, based on oral motor and swallowing assessments. Specific procedures were applied for oral motor and swallowing assessments and both patients underwent videofluoroscopy (VFS). Case 1 presented vocal instability, change in postural control during feeding; food retention in oral cavity; slower oral transit time; and multiple swallowing (signs for solid and liquid). Case 2 presented parted lips at rest and reduced muscle strength; reduced strength and mobility of the tongue; vocal weakness and instability; reduced speech precision and intelligibility; decreased intonation pattern; food retention in oral cavity during feeding; slower oral transit time; multiple swallowing (signs for solid and liquid); poor bolus ejection; incoordination and difficulty in controlling the sips of water taken from the cup; altered cervical auscultation after swallowing and respiratory distress (liquid and puree). For both patients VFS results revealed laryngeal penetration for liquid. CONCLUSIONS Although the literature describes the occurrence of dysarthria and swallowing disorders in patients with AT, little attention has been given to describing which oral motor deficits are responsible for these disorders. Early identification of swallowing alterations and rehabilitation could decrease the risk of aspiration pneumonia. Future studies are necessary in order to investigate the deterioration process of swallowing in AT and the influence of rehabilitation in maintaining functional health.
 ...
PMID:Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization. 2869 41

An 80-year-old woman initially presented with an episode of pleuritic chest pain 10 days after implantation of a dual chamber permanent pacemaker. She returned to hospital a day later with vomiting and fever. She was found to have new atrial fibrillation in addition to right-sided weakness and dysarthria. An infarct in the left anterior inferior cerebellar artery territory was later confirmed on CT. She continued to have recurrent febrile episodes associated with vomiting and dyspnoea. Extensive investigations for infection were negative, and her symptoms were initially attributed to aspiration pneumonia. The patient gradually deteriorated despite antibiotics and became progressively short of breath, with development of large pleural and pericardial effusions. A diagnosis of postcardiac injury syndrome was made after exclusion of other differentials. The patient recovered well after pleurocentesis, pericardiocentesis and a pericardial window, with resolution of symptoms without further medical therapy.
 ...
PMID:Postcardiac injury syndrome and stroke following permanent pacemaker insertion. 2880 29

Progressive supranuclear palsy (PSP) is one of the rare diseases. PSP is characterized by oculomotor dysfunction, postural instability, akinesia, dysarthria, and dysphagia. The major cause of death in patients with PSP is aspiration pneumonia. Considering these complications, spinal anesthesia is useful in patients with PSP. However, the potential harmful effects of spinal anesthesia including neurotoxicity of local anesthetics and neurologic complications for patients with PSP are unclear, because there has been no report. Here, we present spinal anesthesia for a patient with PSP. An 80-year-old man with progressive oculomotor dysfunction, dysphagia, and history of repeated aspiration pneumonia was scheduled for inguinal hernia surgery. Acutely concerning about perioperative pulmonary complications, we performed spinal anesthesia. Fortunately, there was no complication associated with respiration or neural system during perioperative period. We hope our experience and case report will be helpful in specific perioperative anesthetic care for patients with PSP.
 ...
PMID:A case of spinal anesthesia in a patient with progressive supranuclear palsy. 2945 22

Progressive multifocal leukoencephalopathy (PML) is a rare fatal demyelinating disease of the central nervous system caused by reactivation of the JC virus (JCV), which is named after the initials of the patient from whom the virus was first isolated. JCV is highly prevalent worldwide, infects humans in early childhood, and the infection persists throughout the course of life in latent form. The present paper deals with the second autopsy case report of rituximab-associated PML in Japan. A 63-year-old woman who had undergone chemotherapy for non-Hodgkin lymphoma developed progressive dysarthria and cerebellar ataxia. Head magnetic resonance imaging (MRI) revealed small, scattered, hyperintense areas in the midbrain, pons and thalamus, and the patient was first diagnosed as having cerebral infarction. Follow-up MRI showed tendency toward cerebellar atrophy and multiple system atrophy cerebellar type was suggested, which we concluded must have coincidentally occurred. It was challenging to perform biopsy due to the location of the foci and the patient's condition. Twelve months later she died of aspiration pneumonia caused by the bulbar lesion. At autopsy, the histological examination suggested the presence of demyelinating foci with numerous foamy macrophages. In the foci, oligodendrocytes with enlarged ground-glass like nuclei were found in a scattered manner and astrocytes with bizarre nuclei were also detected. These findings verified the case as PML. The first diagnosis of cerebral infarction was later withdrawn, although appropriate disorders were not recalled even after testing with various antibodies. The rate of PML development tends to increase after treatment with molecular-targeted therapies, which directly or indirectly attenuate the cellular-mediated immune system. Various novel molecular-targeted and immunosuppressive drugs have been released on the market; the cases of PML have consequently increased. Accordingly, pathologists should keep this disease in mind in the differential diagnosis when neural symptoms newly emerge in patients who are treated with these drugs.
 ...
PMID:An autopsy case of progressive multifocal leukoencephalopathy after rituximab therapy for malignant lymphoma. 3051 25


<< Previous 1 2