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)

Oculopharyngeal muscular dystrophy is an inherited disorder, usually autosomal dominant, which typically becomes symptomatic during the fifth decade of life with slowly progressive ptosis and dysphagia; childhood onset has not been reported. A 13-year-old female of French-Canadian descent developed nasal speech and strabismus at 5 years of age; there was no family history of neuromuscular disease. Ptosis and mild facial and proximal muscle weakness were present by 9 years of age. Over the next 4 years, the patient developed dysphagia, palatal paralysis, weight loss, decreased ocular motility, scoliosis, shortness of breath, and obstructive apnea. Tracheostomy and gastrostomy were required. Creatine kinase and repetitive facial nerve stimulation were normal. Edrophonium testing was negative and electromyography revealed myopathic motor units in the iliopsoas muscle. A preponderance of type I fibers and scattered atrophic and angulated muscle fibers were present in 3 muscle biopsies. The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.
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PMID:Childhood onset oculopharyngeal muscular dystrophy. 176 43

Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small mouth, mask-like face, high-arched palate, nasal speech, dysphagia, kyphosis and minimal scoliosis were noted, while Case 2 displayed blepharophimosis, mask-like face, long philtrum, high-arched palate, scoliosis, bilateral post-axial polydactyly of the feet and pes varus. We corrected the blepharophimosis in Case 1 by bilateral canthotomy and canthoplasty. This syndrome is usually inherited as an autosomal dominant trait; however, some authors have reported an autosomal an autosomal recessive form of this syndrome similar to our cases. Nevertheless, this could be explained by genetic expression of the mutant gene.
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PMID:Whistling face (Freeman-Sheldon) syndrome in two siblings. 782 40

The whistling face syndrome has been reported, with complications of the respiratory system and feeding problems due to microstomia, since 1938. Dysphagia, however, has not previously been reported as a complication of whistling face syndrome. We report a 13-year-old with the whistling face syndrome and dysphagia of late onset who has the typical whistling face, scoliosis and multiple joint contractures. Dysphagia occurred as a result of compression at the cervicomedullary junction by a cranio-vertebral junction malformation and impingement by the tip of the odontoid process. This child had undergone multiple surgical procedures for cleft palate, clubfeet, contractures of the hip and knee and scoliosis. Halo traction and posterior occipital-cervical decompression and fusion successfully treated the dysphagia.
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PMID:Freeman-Sheldon syndrome (whistling face syndrome) and cranio-vertebral junction malformation producing dysphagia and weight loss. 893 72

Spinocerebellar ataxia 7 (SCA7) is caused by the expansion of an unstable CAG repeat in the first exon of the SCA7 gene. We have analyzed the SCA7 mutation in 19 families and one isolated case of various geographical origins, presenting with autosomal dominant cerebellar ataxia with progressive macular dystrophy. The SCA7 CAG repeat was expanded in 77 patients and in 11 at-risk individuals, with alleles containing from 37 to 130 repeats, demonstrating that SCA7 is genetically homogeneous. Repeats on normal alleles contained from 7 to 35 CAGs. There was a strong negative correlation (r = -0.84) between the age at onset and the size of the CAG repeat expansion in SCA7 patients. Larger expansions were associated with earlier onset, a more severe and rapid clinical course, and a higher frequency of decreased vision, ophthalmoplegia, extensor plantar response and scoliosis. The frequency of other clinical signs such as dysphagia and sphincter disturbances increased with disease duration. The mutation was highly unstable during transmission, with a mean increase of 10 +/- 16 CAG repeats, which was significantly greater in paternal (15 +/- 20) than in maternal (5 +/- 5) transmissions. This correlated well with the marked anticipation (19 +/- 13 years) observed in the families. Gonadal mosaicism, observed in the sperm of a patient, was particularly important, with expanded alleles ranging from 42 to >155 CAG repeats. The degree of instability during transmission, resulting mostly in expansions, is greater than in the seven other neurodegenerative disorders caused by polyglutamine expansions.
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PMID:Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). 942 22

An adult patient with severe scoliosis secondary to familial dysautonomia developed dysphagia and recurrent aspirations. Various imaging studies showed a mechanical obstruction of the esophagus due to compression between the spine and the aorta. The patient underwent a gastrostomy and fundoplication, with a significant decrease in symptoms. The case demonstrates one of the possible long-term consequences of untreated scoliosis.
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PMID:Compression of the esophagus by the spine and the aorta in untreated scoliosis. 970 65

During the planning stages of deinstitutionalization, the importance of nursing services must be recognized and given priority consideration in the community placement of persons with serious developmental disabilities. The objective of this study was to survey the medical and nursing profile of a group of nonambulatory, institutionalized individuals with profound mental retardation in anticipation of their nursing and medical needs in the community. Data were collected from the Individual Habilitation Plans of 55 individuals who had resided in a residential facility for individuals with mental retardation and were scheduled for community placement Serious medical problems in decreasing frequency were constipation (96%), seizure disorder (70%), poor dental hygiene (67%), cerebral palsy (62%), scoliosis (61%), contractions (41%), aspiration (44%), skin lesions (40%), and dysphagia (22%). Considering the complexity of health issues encountered in this population, adequate nursing and medical planning are critical to the wellness and successful community placement of a population with special needs.
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PMID:Survey of nursing and medical profile prior to deinstitutionalization of a population with profound mental retardation. 1258 97

Dysphagia and aspiration seem to be rare in Duchenne muscular dystrophy, but cachexia can be associated with early death. Commonly, weight loss can be attributed to inadequate caloric intake caused by loss of ability to self-feed and/or fatigue. Our objective was to determine whether scoliosis repair is associated with malnutrition. A retrospective chart review was undertaken of patients with Duchenne muscular dystrophy, including those who underwent operative repair of scoliosis. We identified nine boys who lost > 5% body weight within 12 months of surgery. Eight patients who gained weight after surgery and eight patients of comparable age who had no surgery served as control subjects. All patients had no change in biceps strength after surgery, but those who lost weight were unable to self-feed. We found that weight loss after surgery was associated with loss of self-feeding. We conclude that pre- and postoperative management of patients with Duchenne muscular dystrophy should include feeding evaluation and determination of postural changes.
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PMID:Postoperative malnutrition in Duchenne muscular dystrophy. 1266 33

Post-polio syndrome (PPS) is the term used for the new late manifestations that occur in patients 30 to 40 years after the occurrence of acute poliomyelitis. PPS has been recognized for over 100 years, but is more common at the present time because of the large epidemics of poliomyelitis in the 1940s and 1950s. PPS is manifested by neurologic, musculoskeletal, and general manifestations. Neurologic manifestations include new weakness, muscle atrophy, dysphagia, dysphonia, and respiratory failure. Musculoskeletal manifestations include muscle pain, joint pain, spinal spondylosis and scoliosis, and secondary root and peripheral nerve compression. General manifestations include generalized fatigue and cold intolerance. New muscle weakness of a mild-to-moderate degree responds well to a nonfatiguing exercise program and pacing of activity with rest periods to avoid muscle overuse. Generalized fatigue may be treated with energy conservation and weight loss programs and lower extremity orthoses. Pharmacologic agents also may be helpful, but have not been beneficial in controlled trials. Bulbar muscle weakness includes dysphagia, dysphonia, sleep disorders, and chronic respiratory failure. Dysphagia may be improved with instruction on compensatory swallowing techniques. Dysphonia is treated with voice exercise therapy and voice amplification devices. Sleep disorders are treated similarly to sleep disorders in non-PPS patients. Respiratory failure may be treated with continuous positive airway pressure, bilevel positive airway pressure, and nasal ventilation, or tracheotomy and permanent ventilation if necessary. Musculoskeletal (muscle and joint) pain is treated with weight loss, pacing of activities, use of assistive devices, and prescribing anti-inflammatory medications and physical therapy techniques. Cardiopulmonary conditioning can be improved without muscle overuse with cycle or arm ergometer exercise or dynamic aquatic exercise.
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PMID:Post-Polio Syndrome. 1475 41

A 72-year-old patient was admitted to our clinic following posterior wall myocardial infarction. Furthermore, he had suffered from dysphagia and intermittent regurgitation for a time period of two months. Radiological diagnostics revealed an esophageal impingement by the left atrium and the descending aorta due to severe thoracic scoliosis. This represents an infrequent form of cardiovascular esophageal compression.
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PMID:Cardiovascular dysphagia. 1659 46

We explored the manifestations of an autosomal-recessive multisystemic disorder in several Saudi families. Recognized causes of progressive extra-pyramidal disorder and white matter disease were excluded and the neurological, imaging, endocrine, and skin manifestations of this syndrome described. The onset of these symptoms in these patients began in early adolescence and progressed more rapidly in males. All affected patients had total or partial alopecia, clinical and chemical evidence of hypogonadism (low levels of estradiol and testosterone); females had clear evidence of hypogonadism (streak or absent ovaries), and some patients had diabetes mellitus and/or sensorineural deafness. The constant biochemical abnormality was the low IGF-1. The neurological manifestations included moderate to severe intellectual decline and abnormality of muscle tone and posture with choreo-athetoid and dystonic movements resulting in gait difficulty, dysarthria, difficulty swallowing, and scoliosis. The MRI of brain demonstrated white matter involving cerebellum, brain stem, and cerebral structures, as well as abnormal decreased signal intensity in the basal ganglia with involvement of the substantia nigra. We conclude that the association of hypogonadism, alopecia, and persistent low IGF-1 is a significant autosomal recessive syndrome; it is prevalent in Saudi Arabia. We also demonstrate that the progressive extra-pyramidal disorder, white matter disease, and abnormal signals of the basal ganglia are common features of this syndrome. Sensorineural deafness and diabetes mellitus were recognized features.
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PMID:Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. 1716 99


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