What are the 4 dystrophinopathies?

Dystrophinopathy refers to a spectrum of diseases due to mutations in the DMD gene, which encodes for the dystrophin protein found in muscle. The severe end of the spectrum includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD-associated dilated cardiomyopathy.

What is the difference between DMD and BMD?

Condition: Duchenne muscular dystrophy (DMD) is a genetic disease that causes progressive muscle weakness and damage. Becker muscular dystrophy (BMD) is the less severe, and less common, form of the disease. Background: Signs of DMD generally appear before age six; BMD usually appears after eight years of age.

What mutation causes Becker muscular dystrophy?

Mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. The DMD gene provides instructions for making a protein called dystrophin . This protein is located primarily in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers.

What gene does muscular dystrophy affect?

DMD is caused by changes (mutations) of the DMD gene on the X chromosome. The gene regulates the production of a protein called dystrophin that is found in association with the inner side of the membrane of skeletal and cardiac muscle cells.

What is the medical definition of dystrophinopathy?

dystrophinopathy (dĭs-trŏf″ĭn-ŏp′ă-thē) [″ + ″] Diseases of muscle, such as Duchenne or Becker muscular dystrophy, that result from deficiencies or abnormalities of dystrophin. Medical Dictionary, © 2009 Farlex and Partners

How are dystrophinopathies inherited in a proband?

The dystrophinopathies are inherited in an X-linked manner. The risk to the sibs of a proband depends on the genetic status of the mother. Heterozygous females have a 50% chance of transmitting the DMD pathogenic variant in each pregnancy.

Which is the most common mutation in dystrophinopathy?

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Duchenne muscular dystrophy (DMD) and allelic Becker muscular dystrophy (BMD) are the most common forms of MDs, together termed as dystrophinopathy.

Where is the dystrophin gene located in the human body?

Dystrophinopathies are X-linked recessive muscular dystrophies caused by mutation of the dystrophin gene, which is found at locus Xp21; the dystrophin gene is the largest identified human gene. Dystrophin protein functions as a plasma membrane stabilizer.