Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a new mutation in the tRNA(Ala) gene, a T-->C transition at nucleotide position 5628, in a 62-year-old woman with late onset chronic progressive external ophthalmoplegia, dysphagia and mild proximal myopathy. The mutation is heteroplasmic and disrupts a highly conserved A-U base pair within the anticodon stem of the tRNA(Ala). Cytochrome c oxidase-negative fibers harbor a significantly higher level of mutated mtDNA than cytochrome c oxidase-positive fibers. This is the first mutation in the tRNA(Ala) gene which satisfies accepted criteria for pathogenicity.
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PMID:A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia. 1140 21

Although swallowing difficulties have been described in patients with Kearns-Sayre syndrome (KSS), the spectrum of manometric characteristics of dysphagia is not yet well known. Moreover, it is conceivable that a combination of various degrees of swallowing difficulties with different patterns in manometric studies exist, each playing a major role in the prognosis, natural history, and quality of life of KSS patients. An 18-year-old girl diagnosed at the age of 5 years with KSS (muscle biopsy) was admitted to our department with an upper respiratory tract infection and dysphagia. Clinical examination revealed growth retardation, external ophthalmoplegia, pigmentary retinopathy, impaired hearing, and ataxia. An electrocardiogram revealed cardiac conduction defects (long Q-T), and brain magnetic resonance imaging showed abnormalities in the cerebellar hemispheres. A manometric and motility study for dysphagia was conducted and the pharynx and upper esophageal sphincter (UES) resting pressures were similar to control group values, but the swallowing peak contraction pressure of the pharynx and the closing pressure of the UES were very low and could not promote effective peristaltic waves. Relaxation and coordination of the UES were not affected although pharyngeal and upper esophagus peristaltic waves proved to be very low and, consequently, were practically ineffective. The patient was started on treatment comprising a diet rich in potassium, magnesium, and calcium, and oral administration of vitamin D and co-enzyme Q10 100 mg daily; she was discharged 6 days later with apparent clinical improvement.
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PMID:Manometric study in Kearns-Sayre syndrome. 1142 10

Kearns-Sayre syndrome (KSS) is a multisystem mitochondrial disorder characterized by the invariant triad: onset before 20, progressive external ophthalmoplegia and pigmentary retinal degeneration, plus at least one of the following: complete (or not) heart block, cereberal dysfunction and CSF protein above 100 mg/dl. Autopsies from patients with KSS revealed widespread tissue distribution mtDNA deletions. These deletions result in significantly lower activities of the enzymes of the respiratory chain. The same deletion of mitochondrial DNA present in skeletal muscle is found in myocardial tissue. An 18-year-old girl diagnosed with the KSS was admitted to our hospital because of an upper respiratory tract infection and dysphagia. ECG showed cardiac conduction defects. The patient had no history of syncope. At her surface ECG there was a complete RBBB (QRS duration approximately 130 ms), a clockwise rotation with an axis of approximately 90 degrees and a slight QT prolongation (420 ms). Echocardiography showed prolapse with thickening and degeneration of both mitral valve leaflets but without mitral regurgitation. The patient was started on a diet rich in potassium and pharmaceutical therapy with magnesium oxide (240 mg of elemental Mg p.o. per day), 1 g of calcium carbonate t.i.d., vitamin D (calcitriol 0.25 microg p.o. per day) and coenzyme Q(10) 100 mg daily and discharged 6 days later with slightly improved biochemical profile but apparent clinical improvement. Urgent pacemaker implantation was decided but unfortunately the patient died due to acute cardiac arrest 10 days later.
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PMID:Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayre syndrome. 1200 93

The author reports three cases of patient bitten by the Malayan krait (Bungarus candidus). Within two to six hours after bites, patients developed ptosis, ophthalmoplegia, dysarthria, dysphagia and generalized paralysis requiring assisted ventilation. After ventilatory support and other supportive treatments, all patients gradually recovered to normal activity.
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PMID:Neurotoxic envenoming following bites by the Malayan krait (Bungarus candidus). 1240 18

Rhombencephalitis due to listeria monocytogenes is an uncommon and serious form of brainstem infection. The disease has a characteristic biphasic course: a nonspecific prodrome of headache, nausea or vomiting, and fever lasting for a several days is followed by progressive asymmetrical cranial-nerve palsies. We report two cases of Listeria monocytogenes rhombencephalitis. The first case is a previously healthy 20 year-old-man who developed fever, headache, nausea and vomiting, followed by numbness in left trigeminal nerve. The second case is an immunosuppressed 77 year-old-man, who developed sudden left hemiparesis, followed by fever and severe brainstem dysfunction with ophthalmoplegia and dysphagia. In both cases, a brain magnetic resonance imaging (MRI) scan, showed increased intensity on T2-weighted lesions in the brainstem that enhanced after contrast on T1-weighted sequences. Both patients had a favorable outcome with full clinical recovery. We conclude that MRI aids in the early detection of parenchymal infections, therefore, MRI is crucial for early diagnosis and is very useful for follow-up examinations.
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PMID:[Listeria rhombencephalitis. Neuroradiological findings]. 1259 Mar 80

A 68-year-old man without history of antecedent infection experienced nasal voice (day 1), and the developed dysphagia on day 9. Eleven days after the onset, he developed ophthalmoplegia, and on day 13 mild weakness in the neck and the upper limbs. Cerebrospinal fluid examination revealed albuminocytologic dissociation on day 19. Motor nerve conduction velocities and compound muscle action potentials were normal, but terminal latency was slightly prolonged in the median nerve. Enzyme-linked immunosorbent assay showed that the patient's anti-GT1 a IgG antibody fiter was high and that the antibody cross-reacts with GQ1b. We considered that this patient showed acute oropharyngeal palsy at the onset, and then evolved into pharyngeal-cervical-brachial weakness. The presence of this case suggested the nosological continuity between acute oropharyngeal palsy and pharyngeal-cervical-brachial weakness in both clinical and serological aspects.
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PMID:[A case of pharyngeal-cervical-brachial weakness suggestive of the nosological continuity between acute oropharyngeal palsy]. 1260 79

The paper aims to present the case of a progressive and unilateral cranial polyneuropathy due to perineural spread of cutaneous squamous cell carcinoma. This is a case of a 73 year old man with a history of squamous cell carcinoma in the right temporal region that was removed in 1992. In May 2000 he first presented pain and numbness in the distribution of the first branch of right trigeminal nerve and weakness of the ipsilateral frontal muscle. Later on he presented right ophthalmoplegia, and damage of lower cranial nerves, leading to dysphagia and respiratory distress. He was admitted in March 2001 for a gastrostomy for feeding, when ataxia and recurrence of the right temporal lesion ensued. After three examinations with MRI, the fourth study showed meningeal carcinomatous and a metastatic lesion in the brainstem. Histopathologic examination demonstrated dermal and perineural invasion by squamous cell carcinoma. The necropsy also showed meningeal, perineural and endoneural infiltration of atypical epidermal cells and a pons mass composed of the same cells. We conclude that the perineural spread of the cutaneous carcinoma is an exceptional cause of cranial neuropathy, however it must be ruled out in patients with progressive and unilateral cranial neuropathy. In these cases, when no radiological abnormalities are noted, a biopsy may be performed on the peripheral branches of the cranial nerve to confirm the diagnosis.
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PMID:[Progressive cranial neuropathy due to perineural spread of a facial squamous cell carcinoma]. 1261 Jul 61

We report a 70-year-old woman with bilateral optic atrophy, external ophthalmoplegia, bilateral blepharoptosis, and sensory ataxic neuropathy. She had a visual disturbance since childhood. She had dysarthria and gait disturbance at 28 years old. She had bilateral blepharoptosis, marked gait disturbance and dysphagia at 50. On neurological examination, external ophthalmoplegia, bilateral blepharoptosis, mild weakness and muscular atrophy of promixal muscles, hyporeflexia, positive Romberg sign, glove and stocking type sensory disturbance including hypesthesia, hypalgesia, and bathyhypesthesia were found. She did not show pigmented retinopathy, cognitive dysfunctions, hearing loss, cerebellar ataxia, Hoffman reflex nor Babinski sign. She did not show increased lactic acid nor pyruvic acid in the cerebrospinal fluid but mild increase of pyruvic acid (1.0 mg/dl) in her serum. The conduction velocity and amplitude of CMAP of tibial nerve was 37.4 m/sec and 2.9 mV, respectively. The SNAP of ulner and sural nerve were not evoked. Brain MRI showed no pathological findings. Muscle biopsy from the biceps muscle showed many ragged-red fibers (5.3%) and some fibers with decreased or absent COX activity. Sural nerve biopsy showed a marked loss of large myelinated fibers with thin myelinated fibers, and onion-bulb formation. The clinical findings of our patient is similar to that of SANDO (the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis), however, large mtDNA deletion reported by Fadic in patients with SANDO was not found in our patient. It might be possible that her mtDNA deletion is small or point mutation is existed.
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PMID:[A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy]. 1472 65

An 11-year-old boy was evaluated for progressive ataxia, cognitive deterioration, and ophthalmoplegia. The child initially presented with abnormal eye movements at the age of 2 months and was noted to have developmental delay at 6 months. At the age of 7 years, he developed ataxia and cognitive impairment, and subsequently manifested dysphagia and incontinence. The pertinent family history included gait difficulty in the paternal grandmother. At the age of 11, his general physical examination was normal. On neurological examination, he had bilateral external ophthalmoplegia, ataxic dysarthria, dysmetria and tremor in the upper extremities, and marked gait ataxia. An ophthalmological evaluation showed no evidence of pigmentary retinopathy. Brain MRI demonstrated cerebellar, brainstem, and cerebral atrophy. An ataxia panel showed 62 repeats in one allele of the SCA2 gene. Most cases of spinocerebellar ataxia type 2 (SCA2) present between 20 years and 40 years, and affected individuals typically have between 34 and 57 CAG repeats. Neonatal cases of SCA2 have been reported in individuals with over 200 CAG repeats. Childhood SCA2 has been reported previously in two patients but not described clinically. This case broadens the spectrum of the clinical features of infantile-onset SCA2 and highlights the importance of considering this diagnosis in infants and children.
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PMID:Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. 1473 88

There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter The authors report here 2 siblings with clinical features of OPDM. This entity is rare outside Japan and this is the first family to be reported from Thailand
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PMID:Oculopharyngodistal myopathy in a Thai family. 1582 51


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