Duchenne Muscular Dystrophy (DMD)

What is DMD?

Duchenne muscular dystrophy (DMD) is one of nine forms of muscular dystrophy.  Patients with DMD cannot make dystrophin in their muscles causing muscle weakness, eventually resulting in heart and respiratory weaknesses and quadriplegia.

Worldwide, DMD occurs in one per 3500 male births and only one in approximately 50 million girl births.

What are the symptoms of DMD?

DMD symptoms usually manifest before the age of six. DMD symptoms include:

• Muscle weakness beginning in the legs, pelvis and thighs, progressing to the rest of the body
• Motor skills difficulty
• Frequent falling
• Difficulty moving positions
• Difficulty walking
• Fatigue
• Learning disabilities and low IQ
• Progression to heart disease and respiratory failure

What causes DMD?

DMD has an inherited, X-linked recessive pattern. DMD is passed on by mothers, who are carriers of the genetic mutation that causes DMD.

How is DMD diagnosed?

DMD is diagnosed through a series of neurological, heart, lung and muscle tests:

• Electromyography (EMG)
• Molecular Genetic testing
• Muscle biopsy
• Serum creatine phosphokinase (CPK)

In administering these tests, doctors are looking for abnormalities in the heart, chest deformities, enlarged muscles at an early age, muscle wasting and deformities, and respiratory problems.

What treatment options are available for DMD?

DMD treatments aim to manage symptoms as there is no cure for DMD. DMD treatments include:

• Steroids
• Asthma treatment (e.g.albuterol)
• Amino acids
• Carnitine, CoQ10, Creatine and other supplements
• Activity
• Assisted breathing
• Heart medicine

Where can I find out more about DMD?

• NORD
• NIH
• Mayo Clinic
• CureDuchenne
• MDA
• MedlinePlus