Damaged genes rob the body of a key protective protein
DMD is caused by changes (mutations) in a certain gene, which in turn change the way the body works, leading to DMD.
Genes are made up of DNA, a code that tells the cells in our body how to make the building blocks of our bodies—called proteins. Proteins are needed to make and replace cells.
In DMD, there is a change (called a mutation) in the gene that tells the body to make dystrophin, a protective protein that’s necessary to keep the muscles working properly. Because of the change, the body stops making dystrophin, and without dystrophin, muscle cells are easily damaged.
DMD can be caused by different types of mutations
Most cases of DMD are caused when large pieces of the dystrophin gene are lost or erased (‘deletions’). Less often, large pieces of the dystrophin gene are copied or duplicated (‘duplications’). DMD can also be caused by other, smaller changes in the DNA code.
The type of mutation can impact which treatments work
Although most therapeutic strategies can be used regardless of the genetic mutation, in some cases treatment specifically for a particular mutation may be available.
How do the genetic mutations that cause DMD happen?
The mutation in the gene that codes for dystrophin can be either:
Passed down through the family (inherited); or
Caused by a new genetic change–called “spontaneous mutation”
Spontaneous mutations can occur without any family history of the disease. These new mutations could then be passed onto the next generation. Most DMD cases are from inherited mutations, as shown in the graphic:
Neuromuscular disorders affect the muscles and nerves, and most of the causes are genetic. This means they are either passed down through the family or caused by changes in an individual person’s genes.
Most neuromuscular disorders cause muscle weakness that worsens over time. Signs and symptoms of neuromuscular diseases can vary and may be mild, moderate, or severe.
Most often, when a child has a neuromuscular disease, they don’t grow and develop as fast as other children their age. They are often slow to start lifting their head, sitting, walking, and talking.
Treatment and supportive care may improve the symptoms of a neuromuscular disorder, increasing mobility and even life expectancy.
Muscular dystrophy
Muscular dystrophy is the term for a group of neuromuscular disorders that cause muscle weakness and muscle loss.
Duchenne muscular dystrophy (DMD) is a type of muscular dystrophy that causes muscle weakness that worsens over time. The progression and symptoms can vary from person to person.
You are about to view a website that PTC Therapeutics has not reviewed for accuracy, relevance or completeness.
PTC Therapeutics does not endorse organizations that sponsor linked external websites, products, or services that such organizations may offer; and does not control or guarantee the currency, accuracy, relevance or completeness of the information found on the linked external sites.
All trademarks includes herein are the property of their respective owners.
Sign up to receive the latest information from the Duchenne muscular dystrophy community. Be the first to receive:
News alerts
Content updates
Latest resources
Ongoing support
Name
This site is intended for US residents only. The information on this site is not intended to make a diagnosis or to take the place of talking to a US health care professional.