ABSTRACT
In Japan genetic diseases are getting more popular in medicine, because of increased awareness of the role of genetic determinants of diseases. Care for patients with inherited disease is one of the current big problems. In this review, programs developed to support Duchenne muscular dystrophy patients are described as an example of medical services available for genetic diseases in Japan.
Subject(s)
Female , Genetic Counseling , Genetic Diseases, Inborn/epidemiology , Humans , Incidence , Infant, Newborn , Japan/epidemiology , Mass Screening , Metabolism, Inborn Errors/epidemiology , Muscular Dystrophies/diagnosis , Pregnancy , Prenatal DiagnosisABSTRACT
Duchenne muscular dystrophy (DMD) is a common inherited disease with a worldwide incidence of 1 in 3,500 male births. Recent molecular study on the DMD gene identified a 14-kb mRNA encoded by 79 exons distributed over 2.5 million bp of the X-chromosome. The protein named dystrophin contains 3,685 amino acids. Most of the genetic events (mutations) that inactivate the dystrophin gene have been shown to be deletions, with over 65% of patients exhibiting the loss of one or more of the exons at the genomic DNA level. The mechanism of the inactivation of the dystrophin gene in one third of patients with DMD/BMD is unknown.