Pompe disease: A neuromuscular disease with respiratory muscle involvement
نویسندگان
چکیده
منابع مشابه
Respiratory involvement in neuromuscular disease.
72 © Royal College of Physicians 2014. All rights reserved. In neuromuscular disease (NMD), respiratory muscle weakness (RMW) is common and death often results from respiratory failure. RMW initially causes sleep-related hypoventilation, with sleep disruption. With progression, daytime respiratory failure ensues. Bulbar muscle weakness causes diffi culty with speech and swallowing, often compli...
متن کاملCardiac involvement in adults with Pompe disease.
BACKGROUND Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid alpha- glucosidase. Classic infantile Pompe disease results in massive left ventricular (LV) hypertrophy and failure. Although Pompe disease is often included in the differential diagnosis of LV hypertrophy the true frequency of cardiac involvement in adults with Pompe...
متن کاملRespiratory muscle evaluation of the patient with neuromuscular disease.
This review presents clinically relevant issues regarding the assessment of respiratory muscles in individuals with neuromuscular disorders, and discusses the advantages and disadvantages of methods generally available to the clinician. Vital capacity (VC) and total lung capacity (TLC) are routinely measured in pulmonary function laboratories and are typically reduced in the context of severe r...
متن کاملMuscle biopsy in Pompe disease.
UNLABELLED Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases. METHODS A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases). RESULTS Vacuoles with or without glycogen storage were found in 18 cases. All case...
متن کاملRespiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease
BACKGROUND Pompe disease is an autosomal recessive metabolic disorder caused by the deficiency of the lysosomal enzyme acid α-glucosidase. This deficiency leads to glycogen accumulation in the lysosomes of muscle tissue causing progressive muscular weakness particularly of the respiratory system. Enzyme replacement therapy (ERT) has demonstrated efficacy in slowing down disease progression in i...
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ژورنال
عنوان ژورنال: Respiratory Medicine
سال: 2009
ISSN: 0954-6111
DOI: 10.1016/j.rmed.2008.12.009