Diagnosis Methods of Metabolic Myopathies: Electrophysiological Evaluation (Electromyography and Nerve Conduction Studies)

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Şenol H. B., Günay Ç., Yiş U.

Inherited Metabolic Myopathies, Prof. Dr. İlyas OKUR, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.71-76, 2024

  • Yayın Türü: Kitapta Bölüm / Araştırma Kitabı
  • Basım Tarihi: 2024
  • Yayınevi: Türkiye Klinikleri Yayınevi
  • Basıldığı Şehir: Ankara
  • Sayfa Sayıları: ss.71-76
  • Editörler: Prof. Dr. İlyas OKUR, Editör
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Despite recent advancements, the diagnosis of metabolic myopathies still presents challenges. In this process, patient history, family history, physical examination, and blood/urine tests constitute the initial stages. However, genetic tests, although often the diagnostic method of choice, are not universally accessible. Nerve conduction studies and needle electromyography (EMG) can fill this gap, especially in economically constrained settings or when genetic results are inconclusive. They also play a role in excluding many neuromuscular diseases that may present with similar symptoms and signs. While metabolic myopathies often exhibit similar, non-specific myopathic changes in electrodiagnostic evaluations in the later stages of the diseases, they may initially show normal findings. This chapter reviews nerve conduction studies and needle EMG findings related to carbohydrate/lipid metabolism related myopathies and mitochondrial myopathies.