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)

Micturitional disturbances are reported in 5-20% of patients with Behcet disease (BD) affecting the central nervous system. However, corresponding data regarding urodynamic and electrophysiological findings are limited. A patient with known BD presented with dysarthria, diplopia and urinary frequency (36 times/day). MRI revealed an extensive lesion involving the lateral and tegmental pons, reaching the pontomedullary junction. Auditory evoked potentials indicated a left-side lesion between superior olivary nucleus and superior colliculus. Blink reflex examination indicated a location caudal to the left trigeminal root. Pudendal nerve somatosensory evoked potentials and transcranial magnetic stimulation of the perineal muscles were slightly affected. Bulbocavernosus reflex latencies were normal. EMG of the bulbocavernosus muscles showed a normal maximal voluntary contraction activity. Urodynamic studies revealed normal urine volume, maximum flow rate and residual volume. After intravenous administration of methylprednisolone diplopia and dysarthria resolved within 3 weeks. Urinary frequency remained almost unchanged for the first 8 weeks, but clearly improved during the following months. We assume that the present case of urinary frequency is the result of vasculitic lesion affecting the pontine micturition inhibitory area on the ground of Neuro-Behcet disease.
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PMID:Urinary frequency in a case of Neuro-Behcet disease involving the brainstem - clinical, electrophysiological and urodynamic features. 1769 85

A 72-year-old woman was admitted to our hospital because of dysarthria, dysstasia, and diplopia. Examination demonstrated wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome, dysarthria, truncal ataxia, and dysmetria of the four limbs. Cranial MR images demonstrated an acute infarct in the paramedian, lower midbrain-pontine tegmentum. Peduncular hallucinosis was observed during the first several days of hospitalization. Myorhythmia (skeletal myoclonus) appeared as early as day 15 and has persisted to date, with a frequency of approximately 1.5 Hz on the head and chin, and 3.5 Hz on the left upper extremity. Cranial MR images 5 months after onset demonstrated bilateral inferior olivary hypertrophy, while palatal tremor appeared later. Only a limited number of case reports are available in which myorhythmia emerged as early as in our case after the onset of a brain infarct.
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PMID:[Myorhythmia emerging on day 15 in a case of an infarction in the midbrain-pontine tegmentum]. 1788 43

An estimated 15% of all patients admitted to stroke rehabilitation units experience a brainstem stroke. Two case studies are presented to illustrate some of the difficulties encountered in the rehabilitation of these individuals. Unlike hemispheric stroke, the characteristic consequences of brainstem stroke include ataxia, dysarthria, and diplopia. Additionally, individuals with brainstem stroke may suffer from severe dysphagia and may require enteral feedings. Unlike the rehabilitation of patients with hemispheric stroke, where there is an impressive and relatively comprehensive research literature, there has been surprisingly little research published on the rehabilitation of patients with brainstem stroke despite the fact they represent a significant number of patients admitted to stroke rehabilitation units.
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PMID:The rehabilitation of patients recovering from brainstem strokes: case studies and clinical considerations. 1790 Oct 16

Diabetes mellitus develops in about 10% of acromegalic patients, usually secondary to insulin resistance caused by growth hormone excess. Diabetic ketoacidosis is a result of relative insulin deficiency and is a rare feature of acromegaly. Here, we present one case of this disorder. A 57-year-old man came to the emergency room due to 2 weeks of dizziness. He also had polyuria, polydipsia, nausea, diplopia, blurred vision and dysarthria. His plasma glucose level was 32.06 mmol/L, plasma osmolarity was 322 mOsm/L, arterial pH was 7.30, level of bicarbonates was 18 mmol/L, urine ketones was 4+, and HbA1c was 14.1%. No specific cause for the development of this metabolic derangement could be found. He displayed clinical features of acromegaly during admission, which was confirmed by an elevated growth hormone level and pituitary macroadenoma shown on magnetic resonance imaging. The patient underwent total transsphenoid tumor removal 2 weeks later; plasma glucose levels became normal thereafter.
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PMID:Diabetic ketoacidosis in a patient with acromegaly. 1790 70

Myasthenia Gravis is an autoimmune disorder that generally presents with ocular symptoms, specially diplopia and ptosis. Dysphagia may be a manifestation of the generalised type of the disease, but rarely is its presenting feature. The authors describe a case of Myasthenia Gravis in an old patient complaining of dysphagia and dysarthria. Because Myasthenia Gravis is a potentially serious but treatable disease, we emphasize the need to consider it in the differential diagnosis of dysphagia, namely in the elderly. In fact, the disorder is probably underdiagnosed in this population group, because clinicians tend to accept other more frequent diagnosis to explain these symptoms.
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PMID:[Dysphagia and dysarthria: unusual presentation of Myasthenia Gravis]. 1828 45

Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and hepatomegaly. Most GSD Ib patients also show neutropenia and neutrophil dysfunction and therefore are at risk of developing severe infections and inflammatory bowel disease (IBD). An increased risk for autoimmune disorders, such as thyroid autoimmunity and Crohn-like disease, has also been demonstrated, but no systematic study on the prevalence of autoimmune disorders in GSD Ib patients has ever been performed. We describe a 25-year-old patient affected by GSD Ib who developed 'seronegative' myasthenia gravis (MG), presenting with bilateral eyelid ptosis, diplopia, dysarthria, severe dysphagia, dyspnoea and fatigue. The repetitive stimulation of peripheral nerves test showed signs of exhaustion of neuromuscular transmission, particularly evident in the cranial area. Even in the absence of identifiable anti-acetylcholine receptor antibodies, seronegative MG is considered an autoimmune disorder and may be related to the disturbed immune function observed in GSD Ib patients.
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PMID:Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? 1843 26

Vertebral artery dissection is a lesser known but significant cause of stroke in young, healthy people. Given its infrequency of presentation, emergency physicians may not always recognize its common symptoms--vertigo, diplopia, ataxia, and dysarthria--as a stroke. In this case report, we describe a patient with vertebral artery dissection presenting with atypical symptoms and discuss the epidemiology, risk factors, presentation, clinical examination findings, imaging modalities, and treatment of this disease.
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PMID:Vertebral artery dissection presenting as acute cerebrovascular accident. 2682 32

A 65-year-old man was admitted to our hospital complaining of diplopia, dysarthria, difficulty in walking and progressive dysesthesia that developed in his left hand and leg. Brain MRI revealed high signal intensity regions on T2-weighted and FLAIR images of the hippocampus and the corpus amygdaloideum. After admission, the patient's neurological symptoms progressed to delirium and dementia with hallucinations. When he eventually developed severe respiratory failure requiring ventilatory support, brain MRI revealed new high signal intensity regions on T2-weighted images of the medulla oblongata and pons. Chest CT scans showed a mass under the aortic arch, and based on subsequent histopathological examination of a transesophageal endoscopic ultrasonography-guided fine needle aspiration biopsy of the tumor, a diagnosis of small cell lung cancer was made. In addition, anti-Hu antibody was found in the patient's serum, leading to a diagnosis of paraneoplastic encephalomyelitis/sensory neuropathy. One course of chemotherapy (carboplatin + etoposide) was administered; however, the protocol was not completed because the patient developed severe pneumonia. Given that neurological symptoms usually precede a diagnosis of malignancy in paraneoplastic neurological syndromes, it is important that these are considered carefully, as they may contribute to early diagnosis and treatment. Here we report a rare case of severe central hypoventilation in paraneoplastic encephalomyelitis/sensory neuropathy.
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PMID:[Paraneoplastic neurological syndrome accompanied by severe central hypoventilation and expression of anti-Hu antibody in a patient with small cell lung cancer]. 1851 96

Chronic lymphocytic leukemia (CLL) is a frequent hematological malignancy, with meningeal or peripheral nerve infiltrations being the most commonly encountered neurological complications. In this report, we describe a CLL patient with Miller-Fisher syndrome (MFS) who responded to immune modulation with plasmapheresis. A 47-year-old man diagnosed as B-cell CLL admitted with neutropenic fever. He complained of diplopia and numbness of both arms. Neurological examination revealed a bilateral external ophthalmoplegia, dysphagia, dysarthria, mild shoulder girdle muscle weakness and gait ataxia, accompanied by absent tendon reflexes. Nerve conduction studies were indicative of a predominantly axonal sensori-motor peripheral neuropathy. This association of CLL with MFS had not been previously reported in the literature.
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PMID:Miller-Fisher syndrome associated with chronic lymphocytic leukemia. 1868 50

Onset of genetically determined neurodegenerative diseases is difficult to specify because of their insidious and slowly progressive nature. This is especially true for spinocerebellar ataxia (SCA) because of varying affection of many parts of the nervous system and huge variability of symptoms. We investigated early symptoms in 287 patients with SCA1, SCA2, SCA3, or SCA6 and calculated the influence of CAG repeat length on age of onset depending on (1) the definition of disease onset, (2) people defining onset, and (3) duration of symptoms. Gait difficulty was the initial symptom in two-thirds of patients. Double vision, dysarthria, impaired hand writing, and episodic vertigo preceded ataxia in 4% of patients, respectively. Frequency of other early symptoms did not differ from controls and was regarded unspecific. Data about disease onset varied between patients and relatives for 1 year or more in 44% of cases. Influence of repeat length on age of onset was maximum when onset was defined as beginning of permanent gait disturbance and cases with symptoms for more than 10 years were excluded. Under these conditions, CAG repeat length determined 64% of onset variability in SCA1, 67% in SCA2, 46% in SCA3, and 41% in SCA6 demonstrating substantial influence of nonrepeat factors on disease onset in all SCA subtypes. Identification of these factors is of interest as potential targets for disease modifying compounds. In this respect, recognition of early symptoms that develop before onset of ataxia is mandatory to determine the shift from presymptomatic to affected status in SCA.
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PMID:Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. 1875 44


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