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

The manometric findings of deglutitive pharyngoesophageal function in a patient with the Kearns-Sayre syndrome and cervical dysphagia are described. These findings indicate that striated muscles of the pharynx, upper esophageal sphincter (UES), and proximal esophagus are involved. Near absence of pharyngeal peristalsis, abnormally low UES resting pressure, and absence of proximal esophageal peristalsis characterize the manometric findings in this patient. It is conceivable that in mild cases, a combination of various degrees of severity of the above findings may exist.
 ...
PMID:Manometric characteristics of cervical dysphagia in a patient with the Kearns-Sayre syndrome. 139 92

The case of a patient showing bilateral ophthalmoplegia with proximal limb weakness, severe dysphagia and short stature, without family history, is described. The diagnosis of Kearns-Sayre syndrome was excluded because of the absence of pigmentary retinopathy and of all other common manifestations except short stature. The analysis of mitochondrial DNA of the patient's muscle revealed a deleted form accounting for 65% of the total mitochondrial DNA. The deletion, undetectable in the mitochondrial DNA of peripheral blood leukocytes, was apparently indistinguishable from that already described by others in a far more severe form of classic Kearns-Sayre syndrome.
 ...
PMID:Mitochondrial DNA deletion in oculoskeletal myopathy. 204 31

This review, based on a personal series of 49 cases and on published data, deals with 2 groups of ocular myopathies: ocular myopathies with mitochondrial abnormalities (red ragged fibres, giant mitochondria with paracrystalline inclusions). Three subgroups are described: pure ocular myopathies (14 cases), ophthalmoplegia "plus" or Kearns-Sayre syndrome (10 cases). In one autopsied case spongiform encephalopathy was present; oculopharyngeal muscular dystrophies (11 cases). These forms are very different from the previous ones: late onset, almost constant autosomal dominant inheritance, dysphagia, rare ophthalmoplegia, rimmed vacuoles on muscle biopsy (8 cases). The most typical ultrastructural change is the presence of intranuclear tubular filaments. In 2 autopsied cases the central nervous system was entirely normal.
 ...
PMID:[Ocular myopathies. Nosological study of 49 cases]. 296 60

External ophthalmoplegia, retinal pigmentary degeneration and heart block constitute the trias of Kearns-Sayre's syndrome. The aetiology of this disorder of oxidative metabolism is unknown. This syndrome must be more frequent than described. In the ENT field there is an extensive lack of differentiated data. Central neural and peripheral hearing disorders and vestibular disorders are in fact significant, as are also dysphagia, hoarseness and dysarthria in consequence of central and peripheral disorders in muscular function. The authors report on ENT findings in 4 patients with verified Kearns-Sayre's syndrome. Progression of central disorders enhances an unfavourable prognosis. Histochemical, biochemical and electron microscopic data are still lacking for the proper grading and assessment of clinical findings.
 ...
PMID:[Kearns-Sayre syndrome from the otorhinolaryngologic viewpoint]. 660 92

We report a 46-year-old female who presented progressive ophthalmoplegia and limb weakness. She was well until the age of 15 years when there was an onset of bilateral deafness. She became completely deaf by 20 years of age. She noted an onset of weakness in her legs when she was 27-years-old and of ptosis at 34 years of age. She was admitted to our hospital when she was 41-years-old. Neurological examination revealed near total ophthalmoplegia, bilateral ptosis, dysphagia, generalized muscle atrophy and weakness of approximately 4/5 degree, facial grimacing, athetotic movements in four limbs. Laboratory examinations revealed increase in blood lactate and pyruvate levels and diffuse low density change in the cerebral white matter in CT scans. She was thought to have a mitochondrial encephalomyopathy. She was discharged for follow-up, but her clinical course was that of a relentless deterioration. She was readmitted to our service in December 1989. She showed further progress in her weakness and muscle atrophy. Otherwise neurological examination was essentially similar to the previous one. Her cranial CT scans showed low density changes in striatum, thalamus and midbrain in addition to the white matter. Enzyme activities of the electron transport complexes revealed a moderate decrease in the succinatecytochrome c reductase activity, and the Southern blot analysis of mtDNA revealed multiple deletions in mitochondrial genomes. Two months after her admission, she developed bronchopneumonia, and expired on March 13th, 1990. Post-mortem examination revealed diffuse pallor of myeline in the cerebral white matter in K-B staining. A marked neuronal loss and gliosis were observed in putamen bilaterally. Skeletal muscles showed typical changes of mitochondrial myopathies with ragged-red fibers in Gomori-Trichrome staining, and crystalline inclusion bodies by electron microscopic observations. Some neurogenic atrophies were also seen. Oculomotor nuclei appeared intact. It was thought that she had an incomplete form of Kearns-Sayre syndrome. The patient was discussed in a neurological CPC of the departments of Neurology and Pathology of Juntendo University School of Medicine.
 ...
PMID:[Forty-six-year-old woman with progressive external ophthalmoplegia and limb weakness]. 847 58

Cardiocrome, containing cytochrome c, flavin mononucleotide and thiamine diphosphate, was administered intravenously for 22 months to a patient with Kearns-Sayre syndrome. This combined therapy alleviated the patient's easy fatigability, motor disability, corneal edema and chilblains, but was not effective for his ophthalmoplegia, blepharoptosis or hearing loss. Truncal ataxia, dysphagia and an atrioventricular block appeared even with this therapy. Although the abnormal distribution of cerebral blood flow demonstrated by single photon emission computed tomography was improved, serial cranial magnetic resonance imaging and electrophysiological examination revealed progressive changes. In conclusion, this therapy was favorably effective for impaired skeletal muscle function and corneal edema, but not for ocular movements, central nervous system symptoms or cardiac conduction abnormalities, because irreversible degeneration had probably occurred in these organs.
 ...
PMID:Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome. 890 47

To assess dysphagia, the authors examined 12 patients with Kearns-Sayre syndrome (KSS) or chronic progressive external ophthalmoplegia (CPEO) due to mitochondrial DNA (mtDNA) deletion by videofluoroscopy and manometry. Cricopharyngeal achalasia was documented in nine of 12 patients (75%), whereas deglutitive coordination problems were found in one patient. Cricopharyngeal myotomy may be an effective treatment in selected cases with severe cricopharyngeal obstruction.
 ...
PMID:Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions. 1137 1

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.
 ...
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.
 ...
PMID:Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayre syndrome. 1200 93