Combining all reported cases of MPXPS caused by MICU1 gene variants, there is persistent elevation of muscle enzymes and transaminase abnormalities, so in clinical practice, early detection of persistent elevation of muscle enzymes and transaminase abnormalities, especially in families with similar patients, in addition to considering progressive muscular dystrophy, MPXPS should also be vigilant. Here, MICU1 is linked to proximal myopathy with extrapyramidal signs.