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Duchenne/Becker Muscular Dystrophy (DBMD)    

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Duchenne/Becker Muscular Dystrophy (DBMD)

Photos of boys  

 

What is Duchenne/Becker Muscular Dystrophy (DBMD)?
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children. In the absence of newborn screening, DMD is usually diagnosed when a child is 3 to 6 years of age. Early signs include delay in walking, frequent falling, and difficulty getting up from a sitting or lying position. Muscle deterioration continues to progress and, around the time they are 12 years of age, children with DMD become unable to walk. The disease is usually fatal in the teens or early 20s, most commonly due to severe respiratory or heart problems, or both. A milder form of the disease is known as Becker muscular dystrophy (BMD). The combined spectrum of these diseases is referred to as Duchenne/Becker muscular dystrophy (DBMD). The gene for DBMD is on the X chromosome, so DBMD affects males almost exclusively. For more information about DBMD, see  “Causes of Duchenne and Becker Muscular Dystrophy”.

What causes DBMD?
DBMD is caused by changes in the gene that codes for the muscle protein dystrophin. These changes cause dystrophin to be produced in reduced amounts or in a less functional structure. Without enough functional dystrophin, muscles start to break down with regular use. The severity of the condition is related to the amount of functional dystrophin. A total lack of dystrophin results in DMD. For more information on the dystrophin gene, see “Causes of Duchenne and Becker Muscular Dystrophy”.

Is there a cure for DBMD?
At this time, there is no cure for DBMD. There are a few treatments that can help slow the progression of muscle loss, such as use of steroids, but there is no cure.
 

 

What is Muscular Dystrophy?
Muscular dystrophy (MD) comprises a group of genetic disorders characterized by progressive muscle weakness. There are many forms of muscular dystrophy. Different kinds of muscular dystrophy have different genetic causes, affect people at different ages, and affect different muscles.

One Family's Story (EG's story)

A mother remembers:

“Life with EG has been an adventure. We’ve had to be creative in adapting things for his needs. I’ve had my house torn apart to widen doorways, install stair lifts, a roll in shower and more. There are a very limited number of things we can do for entertainment. Of course, the things he can do are costly. We’ve had to improvise, adapt and overcome at every stage of decline with this disease. I personally have no time for “a life”. I work, sleep and take care of my son. However, he is the light of my life. I’d rather know him, as he is, then never to have known him at all.”

“Over the years, we have relied heavily on the NM clinic for information, testing, prescriptions, adaptive technology and for comfort. They have “held our hands” from the beginning to the end stages of EG’s DMD. We would have been lost were it not for their constant assistance. I take great comfort knowing that information, advice and comfort are only an email away. The clinic has also helped us find funding sources for equipment and home modifications, though referrals to appropriate agencies.”

EG's thoughts on living with DMD:

“It sucks! I can’t run, swim, party with friends, camp, go boating, etc. I always hurt physically. It takes 3 hours to get up in the a.m. and 2 hours of cares to go to bed at night. I don’t have much of a day left after that.”

Who has DBMD?
DBMD affects approximately 1 out of every 3,500 to 5,000 boys. With over 4 million births in the United States each year, about 400 to 600 boys with DBMD are born every year. Girls rarely have DBMD.

About one-third of the time, there is someone else in the family that has DBMD, such as a brother, uncle, or cousin. When a boy with DBMD has a relative with the disease, he is said to have “familial” DBMD. But the other two-thirds of the time, the boy is the first one in the family to have DBMD, and is said to have “spontaneous” or “sporadic” DBMD. There are no known risk factors for these spontaneous cases, so a boy with DBMD can be born into any family at any time.

Likewise, a girl can be a spontaneous carrier (a female who has one copy of the DBMD mutation and therefore can pass it on to her sons). This means that a girl who is a carrier of DBMD can be born into any family at any time.

Topic Contents

DBMD Home Page

Causes of DBMD

About Genes & Mutations

EG's Story

References

Resources

What is CDC doing about DBMD?
 


August 2004 Project Updates [PDF]


Newborn Screening for DMD Workgroup Report [PDF]

Contact Information
 

Duchenne/Becker Muscular Dystrophy Program
Division of Human Development and Disability
National Center on Birth Defects and Developmental Disabilities
Centers for Disease Control and Prevention
Mailstop E-88
1600 Clifton Road NE
Atlanta, Georgia 30333
Email:  dmd@cdc.gov
 

 

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National Center on Birth Defects and Developmental Disabilities

The National Center on Birth Defects and Developmental Disabilities (NCBDDD) promotes the health of babies, children, and adults, and enhances the potential for full, productive living.  Our work includes identifying the causes of birth defects and developmental disabilities, helping children to develop and reach their full potential, and promoting health and well-being among people of all ages with disabilities.