Traditionally, diagnosis of NMGDs has relied on clinical history, neuromuscular examination, family pedigree analysis, and invasive investigations such as muscle biopsy for dystrophies, myopathy and to assess nervous involvement, electromyography (EMG) for categorizing myopathies, Magnetic Resonance Imaging (MRI) for muscle involvement patterns and targeted enzyme assays such as acid maltase testing for Pompe Disease. The gene discussed is GAA; the disease is myopathy.