Clinical remission of myopathy with MYH2 deficiency after precision medicine-developed rehabilitation: a case report

摘要

Here, we describe the case of a motor developmental disorder associated with intellectual disability accompanied by MYH2 mutations (c.2266G>A and c.4258C>T) in a female child in China. Her initial detailed functional rehabilitation evaluation gauged motor skills, balance, verbal language, and daily living skills. A general therapy plan was then established to enhance balance, muscle strength in the lower extremities, walking, gross and fine motor function, and family education. Clinicians and therapists later modified her rehabilitation regimen after her MYH2 mutations were identified by adding specific mobility and endurance exercise to the original plan. The clinical remission of myopathy with MYH2 missense mutations was observed in the patient after this targeted rehabilitation, indicating that precision therapy is very effective for developing a suitable rehabilitation program for patients with unexplained myopathies.