• Duchenne muscular dystrophy and Becker muscular dystrophy are among a spectrum of muscle diseases known as “dystrophinopathies” that are caused by a variant (change) in the DMD gene that encodes for a protein called dystrophin. The progression dystrophinopathy symptoms is on a spectrum, ranging from early onset symptoms and quicker progression (Duchenne muscular dystrophy) to later onset symptoms with slower or more variable progression (Becker muscular dystrophy). Carriers of the condition may also experience a range of symptoms. PPMD’s mission and work extends to all of the dystrophinopathies, including those diagnosed with Duchenne, Becker, and carriers. For simplicity, we sometimes use the term Duchenne to refer to any condition caused by variants in the DMD gene.
• Duchenne and Becker are genetic disorders characterized by the slow progressive loss of muscle. It is a multi-systemic condition, affecting many parts of the body, including the skeletal, cardiac (heart), and pulmonary (lung) muscles.
• With Duchenne and Becker, a person cannot make enough functional dystrophin protein. When a baby cannot make enough dystrophin protein, muscle fibers are not protected. Muscle damage over years causes the muscles to break down. This breakdown results in muscle weakness and decreased muscle size (atrophy), which can cause difficulty with walking, and can impact muscles in the heart and lungs.
• Because the DMD gene is found on the X-chromosome, it primarily affects males, while females are typically carriers  who have little to no symptoms. However, some females can have symptoms of Duchenne and may be called manifesting carriers, or females with dystrophinopathy.

Speak with your child’s pediatrician

• There are medical management guidelines providers and pediatricians follow after a Duchenne diagnosis. These guidelines for your child’s healthcare provider are outlined in ACT sheets.

Establish a care team

• All babies should establish care with a primary care provider (PCP), which is typically a pediatrician, family practice physician, nurse practitioner, or internist who will serve as your baby’s “medical home.” After a diagnosis of Duchenne, the PCP is sent information and resources on Duchenne. Your baby’s PCP will remain your first-line care provider for routine childhood well and sick care. During infancy and childhood, the PCP will evaluate developmental milestones, conduct annual hearing and vision screening, annual physical and mental health exams, and ensure vaccinations are given on a schedule.
• Although not urgent from a health perspective, it is important to establish care at a multidisciplinary clinic with a neuromuscular specialist (neurology and/or physical medicine and rehabilitation) to monitor for physical symptoms of Duchenne and initiate treatment appropriately. Your baby’s neuromuscular specialist will lead the management of your baby’s Duchenne care and coordinate appointments with other necessary specialists.
• PPMD’s network of Certified Duchenne Care Centers are centers that are capable of providing comprehensive Duchenne care in agreement with the Care Considerations. If you need assistance in accessing a Certified Duchenne Care Center in your area, have questions about a center, or need resources, please email careteam@parentprojectmd.org.

Schedule an evaluation for Early Intervention

• Schedule an Early Intervention evaluation to assess for developmental delay and need for therapies such as speech or physical therapy. If you have questions or need help with this, ask your child’s pediatrician or neuromuscular specialist.

Seek additional resources & support

• Speak with a genetic counselor. Many Duchenne care centers will have genetic counselors on staff. If not, PPMD has genetic counselors available to answer your questions about Duchenne, coordinate genetic testing, interpret genetic testing results, and provide support. You can schedule a meeting with a genetic counselor here.
• Schedule an appointment to connect with PPMD’s Care Team. Various staff members are available to talk through your child’s care plan, answer questions, and provide support and resources.
• Join The Duchenne Registry. The Duchenne Registry connects Duchenne and Becker patients with actively recruiting clinical trials and research studies and educates patients and families about Duchenne and Becker research. At the same time, The Duchenne Registry is a valuable resource for researchers, allowing access to data provided by patients and their families – information that is vital to advances in the care and treatment of Duchenne. To learn more and to register, visit duchenneregistry.org.
• Visit our Newly Diagnosed page. Keep in mind that this page is geared more toward children who are diagnosed with Duchenne around ages 2 to 5, not newborns.
• Visit our Ways to Connect page to get connected with other families living with Duchenne through PPMD’s local Connect groups.

• A baby with Duchenne is just like any other baby and will generally do all of the typical baby activities. Some parents report noticing reduced movement in infancy, but many babies will not have noticeable symptoms. Specialists may notice lower muscle strength and muscle tone, which is also called hypotonia.
• Babies with Duchenne may be a little slower to meet their developmental milestones. For example, the average age of walking in toddlers with Duchenne is 18 months. Young children with Duchenne may have gait or walking differences, such as walking on their toes. They may have large calf muscles (calf hypertrophy). Speech delay and/or the inability to keep up with peers may also be first signs of Duchenne.
• A referral can be made for an Early Intervention evaluation through your county or state to assess for developmental delays. An evaluation would determine if your baby may benefit from speech therapy, physical therapy, and other types of services based on your baby’s needs. Click here to find information on Early Intervention specific to your state.

• When an individual with Duchenne muscular dystrophy is given anesthesia, a number of safety measures should be considered. Learn more about Surgery and Anesthesia precautions. If your baby requires surgery or a medical procedure, go to a medical center with expertise in the anesthetic management of people living with Duchenne if possible. The anesthesiologist should be aware that your baby has Duchenne, as certain anesthetic drugs are not recommended for people with Duchenne.
• Testing will probably continue to show elevated CK levels in the blood. Blood tests will also likely show elevated levels of certain liver enzymes tests called AST and ALT. Elevated ALT and AST do not require treatment. Learn more about common labs and what they mean.
• It’s important for your baby to stay up to date with routine, recommended vaccinations. Your child’s pediatrician will let you know when vaccinations are due.  

• Duchenne progresses differently for every person. The progression of symptoms through this disease is on a spectrum, ranging from early onset symptoms and quicker progression to later onset symptoms with slower and more variable progression.
• Knowing your baby’s genetic test result can be helpful in determining if some dystrophin protein or no dystrophin protein can be made, and it can help determine if they are a candidate for variant-specific therapies. You can learn more about the different types of genetic variants here.
• Genetic counselors are available to help you understand your baby’s genetic test results. You can schedule a meeting with a genetic counselor here.
• There are many treatments currently available for Duchenne and many more that are in development. There are many different research strategies and therapeutic approaches to target the various Duchenne symptoms. The Drug Development Pipeline provides useful information about new potential therapies in development.

There are multiple FDA-approved therapies for Duchenne muscular dystrophy, with additional potential therapies in development. Talk with your child’s neuromuscular specialist about what treatments they may be eligible for.

• Clinical trials may be an option to consider.
• Click here to learn more about the therapeutic approaches to treating Duchenne.

• As a genetic disorder, Duchenne can be passed from parent to child, or it can be the result of random spontaneous genetic mutations, which may occur during any pregnancy.
• Almost 70% of people with a DMD variant inherited it from a parent. Many parents do not know that they are carriers until after they have a child with Duchenne. The other ~30% of people have genetic variants that developed randomly, either in their mother’s egg cell or in their own cells at the time they were conceived. Random variants are sometimes called “spontaneous” or “de novo” variants.
• Duchenne is called an X-linked condition because the DMD gene is on the X chromosome. Typically, women have two X chromosomes while men have one X chromosome and one Y chromosome. If a woman carries a variant in one copy of her DMD genes, with each pregnancy she will have a 50% chance of passing on the copy of the gene with the variant.
  • Each time a carrier woman has a son with XY chromosomes, there is a 50% chance (or 1 out of 2) that he will have Duchenne.
  • Each time a carrier woman has a daughter with XX chromosomes, there is a 50% chance (or 1 out of 2) that the daughter will be a carrier. Some carriers have no symptoms. Other carriers do develop symptoms, which are usually mild but are important to monitor for.
• When a child is conceived naturally, carriers have no control over which copy of their DMD gene they pass on.
• Genetic testing is recommended for all mothers of people found to have a DMD variant. Genetic testing can be obtained for free through the Decode Duchenne Program. Learning about a mother’s genetic status can provide information about the risk of Duchenne for other family members.
• When a baby is found to have a DMD variant, it is important to ask about the health status of other family members. Does the baby have older siblings? There is a chance that siblings may also have Duchenne or be carriers. Your doctor may recommend screening for other family members.
• Click here to learn more about how Duchenne is inherited.

• A carrier is a person who “carries” a genetic variant in any of their genes that could be passed on to their children. Historically, the term “carrier” was only used to describe people who have a genetic variant, but don’t have symptoms from it themselves. Now we know that some carriers can have symptoms.
• Because the DMD gene for Duchenne is found on the X chromosome and most females have two X chromosomes, most women with a DMD variant have a backup copy of the DMD gene that works correctly. Because the backup copy often makes enough dystrophin to support the muscles, scientists used to think that women with DMD variants would not develop symptoms.
• We now know that some carriers do develop symptoms, but the term “carrier” is still used regularly to describe all females with a disease-causing variant on one copy of their DMD genes. You may also see the phrases “manifesting carriers” or “symptomatic carriers” to differentiate carriers with symptoms.

• There is limited data on what to expect for carriers of Duchenne found on newborn screening. It is unclear how likely they are to have symptoms.
• Females carriers are not usually diagnosed with Duchenne because they make enough of the dystrophin protein. However, some females have symptoms.
• Carriers with persistently elevated CK levels are more likely to have symptoms, as elevated CK levels are suggestive of ongoing muscle damage. Not all carriers will have elevated CK levels and not all carriers with elevated CK levels will have symptoms.
• Muscle weakness can be seen in 10-20% of adult carriers, but daily activities are not significantly affected in most carriers who have symptoms.
• Changes in heart function in adulthood can be seen in 10-50% of carriers. Carriers are recommended to have cardiac evaluation beginning in their late teens/early 20s and, if normal, every 3-5 years after that.
• Though it is rare, some females can have the classic symptoms of Duchenne or Becker. This is known as a manifesting carrier. While there are tests to see if a female is a carrier of a Duchenne mutation, there are no tests at birth that can show if a female will be a manifesting carrier. All carriers should be evaluated by a healthcare provider familiar with Duchenne.
• Carriers have a 50% chance of having sons with Duchenne and daughters who are also carriers.
• Learn more about being a carrier here.

• As a genetic disorder, Duchenne can be passed from parent to child, or it can be the result of random spontaneous genetic mutations, which may occur during any pregnancy.
• Almost 70% of people with a DMD variant inherited it from a parent. Many parents do not know that they are carriers until after they have a child with Duchenne. The other ~30% of people have genetic variants that developed randomly, either in their mother’s egg cell or in their own cells at the time they were conceived. Random variants are sometimes called “spontaneous” or “de novo” variants.
• Duchenne is called an X-linked condition because the DMD gene is on the X chromosome. Typically, women have two X chromosomes while men have one X chromosome and one Y chromosome. If a woman carries a variant in one copy of her DMD genes, with each pregnancy she will have a 50% chance of passing on the copy of the gene with the variant.
  • Each time a carrier woman has a son with XY chromosomes, there is a 50% chance (or 1 out of 2) that he will have Duchenne.
  • Each time a carrier woman has a daughter with XX chromosomes, there is a 50% chance (or 1 out of 2) that the daughter will be a carrier. Some carriers have no symptoms. Other carriers do develop symptoms, which are usually mild but are important to monitor for.
• When a child is conceived naturally, carriers have no control over which copy of their DMD gene they pass on to their children.
• Genetic testing is recommended for all mothers of people found to have a DMD variant. Genetic testing can be obtained for free through the Decode Duchenne Program. Learning about a mother’s genetic status can provide information about the risk of Duchenne for other family members.
• When a baby is found to have a DMD variant, it is important to ask about the health status of other family members. Does the baby have older siblings? There is a chance that siblings may also have Duchenne or be carriers. Your doctor may recommend screening for other family members.
• Click here to learn more about how Duchenne is inherited.