Fig. 4
From: Essential neuromuscular advice for pathologists (first of two parts)
Algorithm for the differential diagnosis of myopathies (Cotta et al. 2017, 2019; Nicolau et al. 2021; Nishikawa et al. 2017; Straub et al. 2018; Verdu-Diaz et al. 2020). The first step in the diagnosis of hereditary myopathies is to exclude the more common and potentially treatable acquired disorders with clinical evaluation and ancillary tests. CPK: creatine phosphokinase; EMG: electromyogram; electroneuromyogram; MLPA: Multiplex Ligation-dependent Probe Amplification; PCR: polymerase chain reaction; RNS: repetitive nerve stimulation; STIR: Short Tau Inversion Recovery sequence on magnetic resonance imaging; T1: T1-weighted longitudinal relaxation time sequence on magnetic resonance imaging; TSH: thyroid stimulating hormone