Muscle biopsy: Diagnostic value in suspected myopathies

Endre Pál, Emese Lovadi, István Gáti, Hajnalka Merkli, Sámuel Komoly

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Muscle biopsy is a frequently used diagnostic procedure in cases of suspected myopathies. Although recently introduced non-invasive blood genetic tests can replace muscle histology in certain diseases (e.g. infantile spinal muscular atrophy), it remains the gold standard in the assessment of myopathies either inherited or acquired origin.We retrospectively analyzed the neuromuscular database of the Neurology Department of University of Pecs, Hungary, between 2000-2010. We reviewed the muscle biopsy reports of 970 biopsy specimens performed in this period. The corresponding medical records were revised as well.The most frequent histological diagnosis was myopathy-dystrophy in 53% of all cases. Neurogenic muscle atrophy and mixed myopathic-neurogenic pathology were found in 18%. Myositis was confirmed in 9%. Biopsy was negative or resulted in non-specific changes in the remaining cases (20%). The number of biopsies/year decreased in the last few years, and the ratio of negative results and neurogenic disorders is reduced significantly as well.In this review, we discuss the indications and diagnostic yield of muscle biopsy, the most frequent types and characteristic histological findings of myopathies. We present the routine procedures and histological techniques.

Original languageEnglish
Title of host publicationMyopathies
Subtitle of host publicationNew Research
PublisherNova Science Publishers, Inc.
Pages57-73
Number of pages17
ISBN (Print)9781622573264
Publication statusPublished - Jan 1 2013

ASJC Scopus subject areas

  • Medicine(all)

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    Pál, E., Lovadi, E., Gáti, I., Merkli, H., & Komoly, S. (2013). Muscle biopsy: Diagnostic value in suspected myopathies. In Myopathies: New Research (pp. 57-73). Nova Science Publishers, Inc..