Limitations of muscle biopsy in Pompe disease
نویسندگان
چکیده
منابع مشابه
Limitations of muscle biopsy in Pompe disease
The diagnosis of Pompe disease in children and adults can be challenging because of the heterogeneous clinical presentation and considerable overlap of signs and symptoms found in other neuromuscular diseases. This review evaluates the use of muscle biopsy and other methods for the diagnosis and differential diagnosis of late-onset Pompe disease. Muscle biopsy is commonly used as an early diagn...
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 کاملMuscle Biopsy
Muscle biopsy has been used for a long time for diagnosis of muscular, nerurogenic and systemic disorders with muscle involvement, because only very few of these disorders show sufficient specific clinical features for definite diagnosis. Since the presence of difficulties in the screening of numerous genes, muscle biopsy could be a time and cost effective procedure for solving the diagnostic p...
متن کاملGlycogenosome accumulation in the arrector pili muscle in Pompe disease
BACKGROUND Glycogenosis type II or Pompe disease is an autosomal-recessive lysosomal storage disease due to mutations in the gene encoding acid alpha-glucosidase (GAA), an enzyme required for lysosomal glycogen degradation. The disease predominantly affects the skeletal and respiratory muscles but there is growing evidence of the involvement of smooth muscle cells in blood vessel walls, suggest...
متن کاملPompe disease
Pompe disease is an autosomal recessive condition with an incidence of around 1 in 40,000 in the general population, and is caused by a deficiency of the enzyme acid alphaglucosidase. Clinical features occur due to the deposition and accumulation of glycogen within lysosomes, most notably those within the cardiac and skeletal muscles. The extent of this enzyme deficiency affects both the age of...
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ژورنال
عنوان ژورنال: BMC Musculoskeletal Disorders
سال: 2013
ISSN: 1471-2474
DOI: 10.1186/1471-2474-14-s2-o5