Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Spinocerebellar ataxia type 8 (SCA8) is caused by the expansion of CTA/CTG triplet repeats on 13q21. Cases can be familial or sporadic. The clinical findings include cerebellar ataxia with upper motor neuron dysfunction, dysphagia, peripheral sensory disturbances, or cognitive and psychiatric impairments, indicating phenotypic variability in SCA8. We report on a patient with rapidly progressive parkinsonism-plus syndrome resembling corticobasal degeneration and triplet expansions in the SCA8 locus. The relationship between clinical phenotype and triplet expansions in the SCA8 locus requires further study.
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PMID:Sporadic SCA8 mutation resembling corticobasal degeneration. 1636 57

For five years, a 56-year-old woman had undergone "Shiatsu" (a technique that uses fingers and the palm of the hand to apply pressure to particular sections of the body's surface to correct neck stiffness and body imbalances in order to maintain and promote health). She suddenly developed neck pain, dizziness, dysphagia, and speech and gait disturbances during treatment. A neurological examination detected bradylalia and truncal and mild bilateral limb ataxia of the cerebellar type. Diffusion-weighted brain MRI showed multiple hyperintense signal lesions at the bilateral cerebellar hemisphere in the posterior inferior cerebellar artery territory. Three-dimensional computed tomographic angiography (3D-CTA) revealed irregular stenosis of the intracranial right vertebral artery (string sign). Dissection of the intracranial portion of the vertebral artery owing to trauma is rare. Physicians need to be aware of patients who have acute dissecting infarction after long periods of repeated trivial pressure such as "Shiatsu". 3D-CTA is a very useful diagnostic procedure for arterial dissection.
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PMID:[Bilateral cerebellar infarction caused by intracranial dissection of the vertebral artery after long periods of "Shiatsu"]. 1731 59

For five years, a 56-year-old woman had undergone "Shiatsu" (a technique that uses fingers and the palm of the hand to apply pressure to particular sections of the body's surface to correct neck stiffness and body imbalances in order to maintain and promote health). She suddenly developed neck pain, dizziness, dysphagia, and speech and gait disturbances during treatment. A neurological examination detected bradylalia and truncal and mild bilateral limb ataxia of the cerebellar type. Diffusion-weighted brain MRI showed multiple hyperintense signal lesions at the bilateral cerebellar hemisphere in the posterior inferior cerebellar artery territory. Three-dimensional computed tomographic angiography (3D-CTA) revealed irregular stenosis of the intracranial right vertebral artery (string sign). Dissection of the intracranial portion of the vertebral artery owing to trauma is rare. Physicians need to be aware of patients who have acute dissecting infarction after long periods of repeated trivial pressure such as "Shiatsu". 3D-CTA is a very useful diagnostic procedure for arterial dissection.
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PMID:[Bilateral cerebellar infarction caused by intracranial dissection of the vertebral artery after long periods of "Shiatsu"]. 1738 Jul 82

Aortoesophageal fistulas are uncommon, dreadful vascular events, most frequently found in the setting of thoracic aorta aneurysms. Patients usually present with thoracic pain, dysphagia and sentinel hematemesis - the Chiari triad - followed by life threatening hematemesis. Emergent open surgery with debridement of necrotic tissue and in situ aortic graft repair is currently the best strategy. However, in patients which cannot withstand surgery, endovascular repair is currently gaining acceptance as a palliative treatment or as a bridge to surgery. We present a case of a 55-year-old female with a past of heavy alcohol abuse and a previously unknown massive aortic aneurysm, who presented to the emergency department complai- ning of acute dysphagia and epigastric pain. An abdominal ultrasound revealed left pleural effusion and suspected clots in the pleural space. A thoracic CTA was promptly done, where a spontaneous ruptured aortic aneurysm with aortoesophageal fistula was discovered. The team, fearing open surgery due to poor cardiac function, opted for a thoracic endovascular aortic repair. The aortoesophageal fistula dissected the esophageal wall in all of its thickness without rupture into the lumen. This was complicated with esophageal ischemia, aneurysmal sac infection and mediastinitis. Because the patient was in shock, in order to help control the infection, an esophageal prosthesis was placed, followed by proximal esophagostomy, distal esophageal closure and gastrostomy. Six months after initial presentation, the patient died at the emergency room, shortly after reentering with massive hematemesis and hypovolemic shock of undetermined origin.
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PMID:Spontaneous Aortoesophageal Fistula And Ruptured Aortic Aneurysm - A Case Report On Combined Aortic And Esophageal Prosrhesis Palliative Treatment. 3223 24

BACKGROUND Myasthenia gravis (MG) is an autoimmune disease characterized by antibodies binding skeletal muscle acetylcholine receptors (AChR). Rarely does the disease manifest with orolaryngeal symptoms before ocular ones. We present a case of MG that on initial presentation had symptoms of cranial nerves (CN) IX and X weakness, including dysphagia and dysphonia. CASE REPORT A 51-year-old woman with panic attacks presented to the Emergency Department (ED) with complaints of her throat closing, swallowing difficulty, and hoarse voice. Multiple ED visits revealed no etiology. However, she developed stridor, which prompted further evaluation. Laryngoscopy and imaging studies revealed no gross abnormalities; therefore, her symptoms of dysphonia and difficulty breathing were attributed to anxiety. Her hospital course was complicated by a cardiac arrest requiring intubation. ECHO, CTA chest, and MRI brain were unremarkable. Her cardiac arrest was hypothesized as being secondary to laryngeal spasm. During her ICU course, she failed extubation multiple times due to acute respiratory failure. An autoimmune etiology was suspected, prompting a paraneoplastic screen, which revealed elevated levels of AChR antibodies at 124 mmol/L. MG was diagnosed and treatment with plasmapheresis and steroids was initiated. However, complications of thrombocytopenia, anemia, and ARDS ensued, so MG treatment was discontinued. The patient was eventually transferred to a LTACH. Thereafter, at outpatient followup, her MG was treated with mycophenolate and prednisone, which led to significant symptom improvement. CONCLUSIONS MG commonly presents in the third decade with clinical features of ptosis, diplopia, and facial weakness. However, initial and isolated symptoms of dysphagia and dysphonia are rare, leading to missed diagnoses. Our case of a middle-aged woman posed a diagnostic challenge because of her uncommon presentation and comorbidities of panic attacks and obesity. This case highlights the crucial need for a high index of clinical suspicion for MG in any patient presenting with symptoms of CN IX and X weakness.
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PMID:Cranial Nerve IX and X Weakness: An Unusual Initial Presentation of Myasthenia Gravis. 3277 33