Búsqueda

Overview 3

The Genetics of DMD Neuromuscular disease basics Who can get DMD—how is it inherited? The gene that causes DMD is located on the X chromosome—and this means that boys are at greater risk of inheriting the disease. This is because boys don’t get a “backup copy” of the gene. Girls inherit two X chromosomes, one […]

Overview 2

The Genetics of DMD Neuromuscular disease basics Understanding what drives the disease How do genes cause DMD? 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, […]

Overview 1

The Causes and Symptoms of Duchenne Muscular Dystrophy (DMD) Neuromuscular disease basics What is DMD? DMD is the most common and most severe form of muscular dystrophy. People with DMD can’t make a special protein called dystrophin, which acts as a shock absorber or stabilizer for muscles. Without dystrophin, muscle cells are easily damaged. If […]

en_USEnglish

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.

Why Sign Up?

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

Email

Country

Address

Have you been diagnosed with DMD?

What type of DMD mutation do you have?

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.

PTC Cares™ is a trademark of PTC Therapeutics.
© 2022 PTC Therapeutics, Inc. All rights reserved.

Date of preparation: September 2022
MAT-CORP-0268

Important Terms and Concepts

Basic terms and key definitions

Neuromuscular disorders

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.