Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported a 49-year-old mother and her 28-year-old son with autosomal dominantly inherited bulbar spinal muscular atrophy (AD-BSMA). They showed progressive bulbar paresis, muscle wasting and weakness dominant in the proximal groups of limb muscles, and finger tremor. Onset of illness was in adult life. In laboratory examinations, elevated creatine kinase in serum and neurogenic changes either in EMG or muscle biopsy were noted. The son had neither gynecomastia nor abnormal sexual hormone levels which were observed in the sex-linked recessive bulbar spinal muscular atrophy (SR-BSMA). Elongation due to the CAG repeats at the androgen receptor gene of the X chromosome in SR-BSMA was not detected. In conclusion, it is clear that AD-BSMA is different from SR-BSMA on the basis of clinical and genetical aspects.
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PMID:[A mother and her son with autosomal dominant bulbar spinal muscular atrophy]. 130 Feb 63

We report a 62-year-old man with a pelvic mass, who developed multiple cranial nerve palsies on the right side. He was well until the summer of 1977 when he developed a numb sensation in the sacral region. In the next year, a huge tumor was found in the sacral area in another hospital. Most of the tumor was resected at that time. Post-operative course was uneventful. In July 1988, there was an onset of weakness in his legs, gait disturbance, and dysuria. Myelography at the above hospital revealed a complete block at the seventh thoracic level. He was treated by laminectomy and post-operative radiation. In June 1990, he developed a neuralgic pan in his right leg. Two months later, he noted diplopia, deafness in his right ear, and swallowing difficulty. He was admitted to our hospital for further work up on January 14th of 1991. On admission, he was afebrile. General physical examination revealed a 4 cm had mass in his right anterior chest attaching the rib. Gynecomastia was noted bilaterally. Liver was felt by 5 cms under the right hypochondrium. The edge of the liver was firm. On neurologic examination he was an alert and mentally sound man. His higher cerebral functions were intact. In the cranial nerves, complete palsy of the abducens nerve, mild nerve deafness, paresis of the soft palate, atrophy and weakness of the sternocleidomastoid and upper trapezium muscles, all on the right side, deviation of the tongue to the right, slurred speech, and dysphagia were observed. The neck was supple. He was able to walk with a support. Mild weakness was present in his right lower extremity. Both legs were spastic. No ataxia or involuntary movements were noted. Deep reflexes were symmetric and normally active. No sensory loss was observed. No meningeal signs were present. Pertinent laboratory findings included moderate anemia (Hb 8.8 g/dl), LDH 2,631 U/l, CRP 7.4 mg/dl. The CSF was under an increased pressure (OP 260 mmH2O) containing 2 lymphocytes/ml, 43 mg/dl of protein, and 49 mg/dl of glucose. Radiologic examinations revealed a destructive change in the sacrum, lytic lesions in the seventh thoracic spine and in the clivus.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A 62-year-old man with multiple cranial nerve palsies on the right side and a pelvic mass]. 821 5

X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34). Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.
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PMID:X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report. 1583 83

The X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle. The disease is caused by an expansion of the CAG repetition in the androgen receptor gene. Patients with Kennedy's disease have more than 39 CAG repetitions. We report a case of 57-year-old man, resident of Monte Dourado (PA, Brazil) who complained of brachiocrural paresis evolving for 3 years along with fasciculations and tremors of extremities. In addition, he also developed dysarthria, dysphagia, and sexual dysfunction. The patient clinical picture included gait impairment, global hyporeflexia, proximal muscle atrophy of upper limbs, deviation of the uvula to right during phonation and tongue atrophy with fasciculations. The patient reported that about 30 years ago he had undergone gynecomastia surgery. His electroneuromyography suggested spinal muscular atrophy, and nuclear magnetic resonance imaging showed tapering of the cervical and thoracic spinal cord. Patient's creatine kinase level was elevated. In view of the findings, an exam was requested to investigate Kennedy's disease. The exam identified 46 CAG repetitions in the androgen receptor gene, which confirmed the diagnostic suspicion. This was the first case of Kennedy's disease diagnosed and described in the Brazilian Amazon. To our knowledge only other four papers were published on this disease in Brazilian patients. A brief review is also provided on etiopathogenic, clinical and diagnostic aspects.
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PMID:X-linked spinal and bulbar muscular atrophy (Kennedy's disease): the first case described in the Brazilian Amazon. 2989 93