Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0231807 (exertional dyspnea)
 3,402 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially have progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease. Muscle biopsy established the diagnosis of acid maltase deficiency. The patient's brother had died at the age of 44 years, after 23 years of a "progressive muscular dystrophy." Acid maltase deficiency should be considered in the differential diagnosis of progressive respiratory insufficiency associated with weakness.
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PMID:Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty. 26 57

A rare case of pulmonary hypertension due to glycogen storage disease type II (Pompe's disease) was reported. An 18-year-old girl was admitted to Kawasaki Medical School Hospital because of cyanosis, dyspnea on exertion and amenorrhea. She was 149 cm in height and 29 kg in body weight. Clinical examination revealed that pulmonary artery pulse and right ventricular heave were palpable over the precordium. On auscultation, an accentuated pulmonic second heart sound, pulmonic ejection sound and diastolic decrescendo murmur (Levine III/VI) were heard in the second intercostal space at the right sternal border. Her skeletal muscles, especially her intercostal muscles were generally weak and atrophic. Her electrocardiogram showed a pulmonary P-wave and right ventricular hypertrophy. The chest X-ray revealed right ventricular enlargement and a dilated pulmonary trunk. On echocardiography, the right ventricle and the main pulmonary artery were dilated, and a systolic notch of the pulmonary valve was found. Swan-Ganz catheterization disclosed that pulmonary artery pressure, right ventricular pressure and mean pulmonary capillary wedge pressure were 76/35 (50) mmHg, 76/12 mmHg and 10 mmHg, respectively. Respiratory function tests showed severe restrictive ventilatory impairment with hypercapnea and hypoxemia. On biopsy of the left quadriceps femoris muscle, the most striking finding was numerous intracytoplasmic vacuoles. The small vacuoles were stained with PAS and acid phosphatase. Electron microscopy showed massive glycogen accumulation in the sarcoplasm and membrane bound vacuoles (glycogenosome). Alpha-1, 4-glucosidase activity in the peripheral lymphocytes was definitely decreased. Her pulmonary hypertension resulted from respiratory muscular atrophy and alveolar hypoventilation caused by Pompe's disease.
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PMID:[Pulmonary hypertension due to glycogen storage disease type II (Pompe's disease): a case report]. 281 49

A 51-year-old man presented with a six-year history of gradually progressive exertional dyspnea. His complaint was attributed to increasing age, but evaluation finally led to a diagnosis of diaphragmatic paralysis. Neurological examination disclosed only minimal evidence of weakness of limb muscles. Electromyographic studies suggested a diagnosis of acid maltase deficiency, which was confirmed by electron microscopic and biochemical studies of muscle biopsy sections. Exercise stress testing was necessary to define the limits of the patient's exercise tolerance.
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PMID:Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis. 678 60

Pompe disease, or glycogen storage disease type II, is a rare autosomal recessive disorder caused by mutations in the gene that encodes for alpha-glucosidase. Presentation in infancy is associated with respiratory failure, cardiomyopathy, and severe muscle weakness. Juvenile- or adult-onset cases typically present with proximal muscle weakness and are associated with respiratory insufficiency or exertional dyspnea. Treatment, until recently, was focused on supportive measures, and infants diagnosed with Pompe disease usually died within the first year of life. The recent development of recombinant alpha-glucosidase has dramatically improved the life expectancy and quality of life of infantile-onset disease with improvements in respiratory and motor function observed in juvenile- or adult-onset cases. This review focuses on the presentation, pathogenesis, diagnosis, and treatment recommendations for Pompe disease in this new era of enzyme replacement therapy.
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PMID:Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. 1852 27