What causes Dystrophinopathy?
Duchenne and Becker muscular dystrophies are caused by mutations in the dystrophin gene, which is located on the X chromosome. Female carriers can develop variable phenotypes, including a severe Duchenne-like presentation, mild adult-onset limb-girdle weakness, asymptomatic CK elevation, and cardiomyopathy.
What are the 4 dystrophinopathies?
The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM).
Which parent carries the muscular dystrophy gene?
Duchenne muscular dystrophy is inherited in an X-linked recessive pattern. Males have only one copy of the X chromosome from their mother and one copy of the Y chromosome from their father. If their X chromosome has a DMD gene mutation, they will have Duchenne muscular dystrophy.
What is Sarcoglycanopathy?
Sarcoglycanopathies are autosomal recessive muscle-wasting disorders that result from genetic defects of four transmembrane glycoproteins, α-, β-, γ- and δ-sarcoglycan. These four subunits form a distinct complex at the cell membrane of skeletal and cardiac muscle.
What is Becker disease?
Becker muscular dystrophy is caused by a genetic problem in producing dystrophin, a protein that protects muscle fibers from breaking down when exposed to enzymes. People with Becker muscular dystrophy produce more dystrophin than those with Duchenne muscular dystrophy.
Who discovered Duchenne muscular dystrophy?
DMD was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s, but until the 1980s, little was known about the cause of any kind of muscular dystrophy. In 1986, MDA-supported researchers identified a particular gene on the X chromosome that, when flawed (mutated), leads to DMD.