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DOI: 10.1055/s-2008-1079576
Diagnostic yield of muscle biospies performed at the University Children's Hospital in Innsbruck between 1990 and 2006
Introduction: The performance of a muscle biopsy is an important step in the diagnosis of muscular and mitochondrial diseases, sometimes also performed in other disorders. In this retrospective analysis the muscle biopsies performed over a period of 15 years were evaluated to determine the diagnostic output and evaluate indications for this invasive procedure.
Patients: From 1990 to 2006, 145 patients (88 male, 57 female) underwent a muscle biopsy, mainly due to symptoms like muscular hypotonia and weakness, metabolic acidosis, seizures, developmental delay. Age range was 1–7 years for 126/145 patients; 62 were biopsied during the first year of life. We grouped the patients in six categories (i.e., spinal muscular atrophy, muscular dystrophy, mitochondrial disorders, developmental delay, epilepsy, and others).
Results: In 53 out of the 145 biopsies the results were diagnostically relevant; 18 by light microscopy and 35 by biochemical investigation. In total, 85 patients were assigned a definite diagnosis; 33 a probable/possible diagnosis, in 27 cases the diagnosis remained unclear.
Conclusion: The diagnostic yield for the muscle biopsy was 36,5%. The main factor for a conclusive result is the indication for the muscle biopsy, which is still mainly supported by a good clinical history and evaluation of the patient. Over the last years, new analytical procedures have been developed and improved substantially, so we think that some of the earlier patients would get a definite diagnosis today.