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)

The serious prognostic implications of familial dysautonomia (FD) for the affected individual and his family make early definitive diagnosis mandatory. Familial dysautonomia has rarely been diagnosed in the neonatal period in hitherto unaffected families. We describe here three such newborn patients to reinforce the limited data available on this subject. In spite of the variability of expression and the incompleteness of the manifestations of FD in the neonatal period, as well as the presence of a number of "dysautonomic" features in normal newborns, we believe that it is possible to establish a diagnosis of FD neonatally. We pay particular note to the altered state of consciousness and behavior in neonatal FD, the unusual posture and limb movements, and the swallowing disorder with tendency to neonatal aspiration. In addition, the incidental finding of bile pigment in the amniotic fluid of an affected fetus without hemolytic disease may hint at a possible approach to fetal diagnosis of this condition.
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PMID:Neonatal diagnosis of familial dysautonomia. 10 61

An infant presented with congenital hypotonia, poor sucking, apathy, and areflexia. Muscle biopsy at two months of age revealed numerous nemaline rods, suggesting congenital nemaline myopathy. During the ensuing months, familial dysautonomia was suggested by recurrent pulmonary infections, dysphagia, alacrima, hyperhydrosis, emotional lability, and unexplained episodes of hyperthermia and breath-holding spells. The diagnosis was confirmed by positive intradermal histamine and ocular mecholyl tests. The finding of nemaline rods adds a new facet to the recognized polymorphic presentation of familial dysautonomia.
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PMID:Familial dysautonomia manifesting as neonatal nemaline myopathy. 285 35

Familial dysautonomia (FD) is a rare incurable genetic disorder with multisystem involvement. Most of its clinical manifestations are related to disorders of the autonomic nervous system. The disease is associated with specific disturbances of the upper gastrointestinal tract: pharyngoesophageal dyskinesia, gastroesophageal reflux, and prolonged gastric emptying. About 40% of the dysautonomic children manifest repeat vomiting crises. In view of the extensive gastrointestinal symptomatology, children with FD are prone to repeated aspiration pneumonia and chronic respiratory failure, while inadequate calory and fluid intake may lead to a chronic state of hypovolemia and severe failure to thrive. Control of vomiting, prevention of aspiration due to abnormal swallowing, and the assurance of adequate calory intake are three major objectives in the treatment of the dysautonomic child. Medical treatment of the gastrointestinal disorders using different drugs has had limited success. This study reviews the surgical experience in ten children with FD. The type of the procedure used was determined by the severity of the upper GI disturbances. Nine children underwent gastroesophageal Nissen fundoplication and gastrostomy. In seven of them, a pyloroplasty was added. Gastrostomy alone was done in one patient only. Postoperative complications included transient dysphagia in four patients, gastric dilatation in four patients, and dumping syndrome in one. There has been no incidence of immediate postoperative death. One child died 6 months after operation from severe and irreversible respiratory failure. Following operation, the patients still suffered from dysautonomic crises but these were not associated with vomiting.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The surgical management of children with familial dysautonomia. 408 89

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

Familial dysautonomia (FD) is a neurodevelopmental genetic disorder within the larger classification of hereditary sensory and autonomic neuropathies, each caused by a different genetic error. The FD gene has been identified as IKBKAP. Mutations result in tissue-specific expression of mutant IkappaB kinase-associated protein (IKAP). The genetic error probably affects development, as well as maintenance, of neurons because there is neuropathological and clinical progression. Pathological alterations consist of decreased unmyelinated and small-fiber neurons. Clinical features reflect widespread involvement of sensory and autonomic neurons. Sensory loss includes impaired pain and temperature appreciation. Autonomic features include dysphagia, vomiting crises, blood pressure lability, and sudomotor dysfunction. Central dysfunction includes emotional lability and ataxia. With supportive treatment, prognosis has improved greatly. About 40% of patients are over age 20 years. The cause of death is usually pulmonary failure, unexplained sudden deaths, or renal failure. With the discovery of the genetic defect, definitive treatments are anticipated.
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PMID:Familial dysautonomia. 1498 33

Familial dysautonomia (FD) is an autosomal recessive disorder characterized by autonomic and sensory neuropathy. Owing to pervasive dysfunction, the disease has protean clinical manifestations, affecting the ocular, gastrointestinal, pulmonary, orthopedic, vasomotor, and neurologic systems. The gastrointestinal perturbations, including dysphagia, gastroesophageal dysmotility, gastroesophageal reflux, and vomiting crises, are among the earliest signs. Here, we present the first 3 instances of gastric ulcers in patients with FD and discuss their common presenting features and the special management that was required.
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PMID:Complicated peptic ulcer disease in three patients with familial dysautonomia. 2093 Jun 41

Familial dysautonomia is a rare disease affecting the nervous system. Symptoms include speech and movement problems, anterior sialorrhea (drooling) due to hypersalivation as a consequence of poor oropharyngeal coordination; dysphagia and aspiration pneumonia secondary to recurrent posterior sialorrhea. The treatment for sialorrhea in this population is very challenging. Traditional drugs carry a number of side-effects that are difficult to control in this disease. We report the first documented case series of 3 patients with this condition that successfully responded to Onabotulinum toxin A injection into their salivary glands. This is an innovative, safe method for drooling control in this population.
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PMID:Onabotulinum toxin A for the treatment of sialorrhea in familial dysautonomia. 2472 47