What mutation type causes duchenne muscular dystrophy?

Duchenne MD. Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach.
DMD is caused by. mutation of Xp21.2-p21.1, a large gene that encodes dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier females need testing for cardiomyopathy, heart muscle disease. . See mda.org.

Related Questions

What type of genetic disorder is the duchenne muscular dystrophy?

"X-Linked recessive" This means that the problem causing this disease is carried on the x chromosome. Women have 2 of these, men just one. If a boy has an x chromosome that has this genetic defect, there is no other dna to "cover" this up and that boy will have the disease. Women have 2 copies of dna, and only can be carriers. Mothers can then pass this problem on to their sons, however. Read more...

What is the definition or description of: Duchenne muscular dystrophy?

Duchenne muscular- -Dystrophy or DMD is a genetic disorder. DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. DMD is characterized by progressive muscle weakness and degeneration. Symptom onset is usually between ages 3 and 5. The disease primarily affects boys, but in rare cases it can affect girls. Read more...

How genetically is duchenne muscular dystrophy is transmitted?

X linked recessive. So it only shows up in males. Females can carry the gene and pass it on to their sons. Read more...
X linked. The gene for the abnormal protein is located on the x chromosome. Hence it is "x linked" . Mostly boys are affected. Read more...