Value of muscle enzyme measurement in evaluating different neuromuscular diseases

Abstract Background Muscle enzymes sometimes can provide clues for many similar neuromuscular disorders. However literatures that described and compared the muscle enzyme levels among these diseases are few. We described their changes in a group of Chinese patients. Methods We reviewed creatine kinase (CK), lactate dehydrogenase (LDH), aspartate transaminase (AST) levels and CK/lDH in Chinese patients with Duchene/Becker muscular dystrophy (DMD/BMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), polymyositis (PM), lipid storage myopathy (LSM), motor neuron disease (MND) and spinal muscular atrophy (SMA). The diagnosis of DMD/BMD, FSHD, LSM and SMA was confirmed by genetic analysis. Comparisons between groups were tested by One-Way ANOVA analysis and LSD test. Results CK: DMD/BMD > PM > LGMD > LSM > FSHD > MND > SMA. LDH and AST: DMD/BMD > LSM > PM > LGMD > FSHD > SMA > MND. For MND, logCK in PMA is the highest. For SMA, logCK value in type III is the highest. LDH disproportionately elevates in LSM and SMA. Conclusion This investigation described muscle enzyme profiles in a large cohort of Chinese patients with neuromuscular diseases. Muscle enzyme values may have some implications for making decision when the diagnosis is hard.