Fukuyama Congenital Muscular Dystrophy and Related Diseases

Abstract

A 1-year-old Japanese female patient with motor retardation was brought to our outpatient clinic by her mother. The child was found to have high serum creatine kinase (CK) level according to the 1-year-old medical checkup and was recommended further evaluation. The girl, the second child in her family, was born at full term in a local hospital and, after birth, was transferred to a general hospital because of muscle hypotonus, poor eye opening and sucking, and a high serum CK level (5461 IU/L: normal ranges are between 40 and 310 IU/L). She was followed up because her doctors considered these symptoms to arise from neonatal asphyxia. The infant developed quickly after 2 weeks, and her serum CK level decreased to normal. She grew up slightly slowly and acquired head control at 5 months of age (commonly acquired at 3–4 months after birth); she could not roll over at 7 months and rehabilitation was started. At 1 year of age, her muscle tonus remained decreased, and her serum CK level was elevated again (7532 IU/L). She could not stand up without support.