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 patient, a 31-year-old married woman, noticed spasticity on walking at the age of 19 accompanied by ataxia, dysarthria and dysphagia. Facial twitching and dystonic movement of extremities have been observed since age 27. A sister of her father showed the similar ataxia and dysarthria, and expired of pneumonia at the age of 45. On admission at the age of 29, neurological examinations revealed nystagmus, marked spasticity with pathological reflexes and clonus, cerebellar ataxia, dysarthria and dysphagia, diffuse muscle wasting, fasciculation in facial musculature, and generalized slow dystonic movement. By neuro-otological studies bilateral MLF syndrome with upward gaze limitation and decreased velocity of saccadic eye movement were detected. Surface EMG at rest showed a dystonic discharges on the extremities. Needle EMG disclosed a systemic neurogenic change with reduced interference and high amplitude potentials. Atrophy of the brainstem was remarkable on the cranial CT and MRI. These abnormal eye movements, especially bilateral MLF syndrome and generalized dystonia seem to be quite unusual in the variety of spinocerebellar degenerations. On reviewing detected clinical descriptions on Joseph disease this case can be probably included.
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PMID:[A case of spinocerebellar degeneration with bilateral MLF syndrome and dystonia]. 274 81

A two year and ten-month-old girl with cerebello-brain stem leukodystrophy is presented. She was hypotonic with spasticity and showed delayed motor development until she was twelve months old, when regression of motor activities began. Progressive hypotonia, dysphagia and fatal respiratory abnormalities developed. Auditory brain stem response was absent. Pathological examination revealed primary demyelination with a predilection for the cerebellum, brain stem and spinal cord, in association with changes of the cerebellar cortex, pontine nuclei, inferior olivary nuclei and part of the basal ganglia. Clinical, pathological and biochemical studies revealed that this disease is different from metachromatic leukodystrophy, Krabbe's globoid cell leukodystrophy and adrenoleukodystrophy. The clinical entity of cerebello-brain stem orthochromatic leukodystrophy is discussed.
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PMID:Cerebello-brain stem orthochromatic leukodystrophy with floppiness and bulbar paralysis. 647 80

Sixty-five cases of clinically diagnosed multiple lacunar state have been analysed. The clinical course of multiple lacunar state is usually progressive in nature, simulating degenerative diseases, in contrast with the mode of acute onset seen in the other vascular diseases. Average age at the initial visit was 63.8 year-old, and sex ratio showed marked male preponderance, being 12 for males and 1 for females. Gait disturbance and speech disturbance are the most frequent initial symptoms, followed by slow motion, emotional lability and swallowing difficulty. Neurological manifestations are dysarthria, short-stepped and apraxic gait, hyperreflexia, positive Babinski and Chaddock reflexes, minimal spasticity, dementia, positive palmo-mental reflex, emotional lability, fixed face, rigidity, bradykinesia, foot grasping, dysphagia, positive Myerson's sign and tremor, in the order described. The important point is that the rigidity is paratonic and the tremor is action or postural, not the cogwheel rigidity or resting tremor like Parkinson's disease. The appearance of pathological reflexes (Babinski and Chaddock reflexes) are quite important, especially Chaddock reflex, which can frequently become positive despite negative or equivocal Babinski reflex. Hypertension, especially longstanding in nature, is the major contributing factor in this disorder. CT scan showed the presence of one or more lacunes in 52 out of 65 cases (80.0%). The detection of lacune can be influenced by the quality of CT scan, and the high resolution CT scanner is greatly useful for that purpose. It is stressed that the detailed neurological and computed tomographic evaluations will make it possible to reach the clinical diagnosis and appropriate treatment of multiple lacunar state.
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PMID:[Clinical studies on multiple lacunar state]. 674 15

The syndrome of primary lateral sclerosis (PLS) has been reported clinically on many occasions. Pathologic confirmation in the modern era, however, has generally been lacking. In a recently reported case of PLS, the disorder was complicated by a pontine infarct. We describe a 65-year-old woman whose illness began with spastic dysarthria, which gradually worsened to the point that 18 months later she could barely utter a sound. Meanwhile, dysphagia, brisk reflexes, and a pseudobulbar affect had developed. Three years after onset she had a spastic contractured right-sided hemiplegia and walked with short shuffling steps. The spasticity slowly progressed, and she died of aspiration pneumonia 3.5 years after the onset of dysarthria. Neuropathologic examination showed bilateral atrophy of the precentral gyri, which microscopically showed a paucity of Betz cells. There was loss of myelin throughout the corticospinal system, yet the anterior-horn cells of the spinal cord and hypoglossal nuclei were well preserved. Intracytoplasmic eosinophilic inclusion bodies, of unknown cause and significance, were observed in occasional motor neurons, one in the hypoglossal nucleus and two in spinal cord anterior horns. Clinically and pathologically, this case meets the criteria for PLS.
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PMID:Primary lateral sclerosis: a case report. 729 6

Botulinum toxin is known as a relatively safe and efficacious agent for the treatment of various neurologic and ophthalmologic disorders. Since dysphagia and deglutition problems combined with aspiration are often caused by spasticity, hypertonus, or delayed relaxation of the upper esophageal sphincter (UES), conventional treatment including lateral cricopharyngotomy was replaced by localized injections of botulinum toxin into the cricopharyngeal muscle (CM) in a series of 7 patients. The study comprised patients with slight dysphagia caused by isolated hypertonus of the UES, as well as patients with severe deglutition disorders, complete inability to swallow, and aspiration problems. Preoperative diagnostic evaluation included careful history-taking, physical examination, cineradiography, and esophageal manometry to exclude other causes of dysphagia. For precise localization, injections were performed under general anesthesia after location of the CM by direct esophagoscopy and electromyographic guidance. Injections were administered into the dorsomedial part and on both sides into the ventrolateral parts of the muscle. Depending on the severity of symptoms and the intraluminal pressure of the UES, the dose varied between 80 and 120 units (botulinum toxin A from Dysport). The treatment outcome was evaluated by a disability rating score: patients' complaints were scored by subjective and objective parameters before and after injection. All but 2 patients experienced complete relief or marked improvement of their complaints. There were no severe side effects or postoperative complications. Local botulinum toxin injection proved to be an effective alternative treatment to invasive procedures for patients with isolated dysfunction of the UES, and also for patients with more complex deglutition problems combined with aspiration.
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PMID:Treatment of dysfunction of the cricopharyngeal muscle with botulinum A toxin: introduction of a new, noninvasive method. 829 57

A 14-year-old boy was admitted to our Department due to peripheral palsy of right VII and bilateral of the VI cranial nerves, spasticity, cerebellar symptoms as well as to dysphagia and dysarthria. In general, he was hospitalized 13 times because of the disease of a relapsing-remitting and next progressive course. He died 31 years after onset of the disease. Multiple sclerosis was diagnosed. Brain autopsy revealed tumor involving almost all brain stem structures and a part of right cerebellar hemisphere. Histologically, cavernous angioma was diagnosed.
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PMID:Cavernous angioma of brain stem mimicking multiple sclerosis. 867 35

This paper presents an account of chronic-progressive Spinobulbar Spasticity (SBS) or Primary Lateral Sclerosis (PLS), a rare syndrome involving degeneration of the upper motoneuron, on the basis of 6 clinically examined cases. Individuals of both sexes can be affected. Onset of the syndrome occurs around the age of 54, but may sometimes be before 50. Early symptoms of the disease are spasticity on one leg and disturbance of motor skills in one hand. The symptoms generalize within two to three years into tetraspasticity accentuated in the legs, accompanied by pseudo-bulbar dysarthria and dysphagia, which, however, may also be present at the onset of the disease. Compulsive laughing and crying, optokinetic disturbances and facial stiffness develop as additional, though inconstant symptoms. Disease courses of 25 years were observed. Therapy is symptomatic. Fasciculation and muscular atrophy, which would indicate a transition to Amyotrophic Lateral Sclerosis (ALS), were not observed even if the disease was of longstanding. SBS differs from spastic spinal paralysis by virtue of its greater mean age of incidence, its tetraspasticity in conjunction with pseudobulbar signs, and-so far as can be established to date-its apparent non-hereditariness. An influence of exotoxic factors has not been demonstrated so far. The clinical syndrome results from a selective degeneration of the corticospinal and cortico-bulbar tracts up to the motor cortex, where loss of original pyramidal cells has been shown to occur (Pringle et al., 1992). The paper includes a survey of the clinical and neuropathological findings in cases of SBS published so far. Extensive anamnestic and clinical records including TCMS-studies, PET and NMR-CT scans performed in the parasagittal plane are essential for early diagnosis of the syndrome.
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PMID:[Chronic progressive spinobulbar spasticity (primary lateral sclerosis)]. 867 41

A boy underwent liver transplantation for postnecrotic cirrhosis secondary to Wilson's disease. The patient had no neurological clinical manifestations prior to the transplantation. The patient developed dysarthria, dysphagia, spasticity, rigidity, and intention and resting tremor of all extremities. Cranial computerized tomography revealed hypodensity of the thalamus, basal ganglia and external capsule. Anti-cytomegalovirus IgM became positive. At autopsy, there were severe pathological changes at the thalamus and basal ganglia.
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PMID:Extrapyramidal disorder secondary to cytomegalovirus infection and toxoplasmosis after liver transplantation. 874 Jan 36

In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was shown to be X-linked based on a description of a large Norwegian pedigree. More recently, it was shown that this original DFN-1 family represented a new type of recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. This new disorder, termed Mohr-Tranebjaerg syndrome (referred to here as DFN-1/MTS) was mapped to the Xq21.3-Xq22 region2. Using positional information from a patient with a 21-kb deletion in chromosome Xq22 and sensorineural deafness along with dystonia, we characterized a novel transcript lying within the deletion as a candidate for this complex syndrome. We now report small deletions in this candidate gene in the original DFN-1/MTS family, and in a family with deafness, dystonia and mental deficiency but not blindness. This gene, named DDP (deafness/ dystonia peptide), shows high levels of expression in fetal and adult brain. The DDP protein demonstrates striking similarity to a predicted Schizosaccharomyces pombe protein of no known function. Thus, is it likely that the DDP gene encodes an evolutionarily conserved novel polypeptide necessary for normal human neurological development.
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PMID:A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. 884 Nov 89

Amyotrophic lateral sclerosis (ALS) is a typical intractable disease affecting the primary and secondary motoneurones resulting in generalized muscular atrophy and weakness with or without spasticity. Dysphagia, dysarthria, and respiratory difficulty are symptoms which cause restriction of ADL and death. Recent achievement in understanding neuronal death in ALS has invited trials on various drugs aiming at neuroprotection and prolongation of the course of ALS. They include inhibition of excitotoxicity of amino acids, suppression of free radicals by lecithinized SOD and various neurotrophic factors. Significant prolongation of life span was obtained by riluzole in a US-Europe trial, but the effects were insignificant in the Japanese nation-wide trial.
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PMID:[Neuroprotective therapy for amyotrophic lateral sclerosis (ALS)]. 912 96


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