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Duchenne Muscular Dystrophy (DMD)

Rare and fatal genetic disorder resulting in progressive muscle weakness from early childhood

What is Duchenne Muscular Dystrophy?

Muscular dystrophies involve progressive muscle wasting and weakness and are caused by a mutation in the DNA that results in either the absence of or very low levels of the dystrophin protein. Duchenne muscular dystrophy (DMD) is the most common – and most severe – type of muscular dystrophy.

Duchenne muscular dystrophy occurs when a mutation in the dystrophin gene prevents the cell from making a functional dystrophin protein. Dystrophin is a muscle membrane associated protein and is critical to the structural and membrane stability of muscle fibers in the skeletal, diaphragm and heart muscle. The absence of normally functioning dystrophin results in muscle fragility, such that muscle injury occurs when muscles contract or stretch during normal use. As muscle damage progresses, connective tissue and fat replace muscle fibers, resulting in inexorable muscle weakness. Patients with Duchenne muscular dystrophy typically lose the ability to walk by their early teens, require ventilation support in their late teens and, eventually, die due to heart and lung failure. The average life expectancy for Duchenne muscular dystrophy patients is in their mid-twenties (mid-thirties with comprehensive health care intervention).

How Common is Duchenne Muscular Dystrophy? Is it Treatable?

Duchenne muscular dystrophy occurs in approximately one in 5,000 male births and about 20,000 babies worldwide are born with it each year. Genetic tests are available to determine if a patient’s Duchenne muscular dystrophy is caused by a nonsense mutation. We estimate that a nonsense mutation is the cause of Duchenne muscular dystrophy in approximately 13% of patients.

Improvements in the function, quality of life, and longevity of patients with Duchenne muscular dystrophy are often achieved through a multidisciplinary approach to symptom management. With prolonged survival, individuals with DMD face a unique set of challenges related to psychosocial issues and transitions of care, including but not limited to mental health and independence, functionality, and quality of life in critical domains of living, such as education, employment and interpersonal relationships.

How is PTC Working to Treat DMD?

PTC currently has two approved medicines for treating Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene in ambulatory patients aged 2 years and older: Translarna™ (ataluren) and Emflaza® (deflazacort).

How Can You Stay Informed About Duchenne Muscular Dystrophy?

Resources for Patients and Caregivers

Resources for Healthcare Providers

If you wish to speak to us regarding our therapeutic approach, please use the following email addresses: 

Patients and families: PatientInfo@ptcbio.com
Physicians: 
MedInfo@ptcbio.com