Congenital muscular dystrophy (CMD) is a group of rare muscular dystrophies that cause muscle weakness in infants. There are several different subtypes based on which gene has a mutation. Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications.
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Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that become apparent at or near birth. “Congenital” means “present from birth.”
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy
Muscular dystrophies are chronic genetic (inherited) conditions that cause muscle weakness and other symptoms. Muscle weakness generally becomes more severe over time.
There are several subtypes of congenital muscular dystrophy. Healthcare providers diagnose the subtype according to the affected gene(s). Some of the most common include:
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Congenital muscular dystrophy is rare. Researchers estimate that it affects 6 to 9 children per 1 million worldwide.
The main symptom of congenital muscular dystrophy is muscle weakness. At birth or shortly thereafter, this could look like:
Significant gross motor skill delays in child development are also signs of CMD later after birth.
The severity of muscle weakness and other symptoms in babies with CMD can vary. Depending on the specific type of CMD, your child may have additional symptoms, like:
The possible complications of congenital muscular dystrophy depend on the type. But in general, they could include:
Mutations (changes) in the genes that are responsible for healthy muscle structure and function cause congenital muscular dystrophy. The mutations mean that the cells that would normally maintain your baby’s muscles can no longer fulfill this role, leading to progressive muscle weakness over time.
There are several genes — and possible genetic mutations — that play a role in muscle function. This is why there are so many different forms of muscular dystrophy, as well as CMD.
The majority of CMDs result from an autosomal recessive inheritance pattern. This means that your child inherited a genetic mutation that causes the condition from both of their biological parents.
Some cases of CMD develop spontaneously, meaning the mutation happened randomly and wasn’t inherited. This is called a de novo mutation.
If your baby has symptoms of congenital muscular dystrophy (poor muscle tone being the main sign), their healthcare provider will likely perform a physical exam, neurological exam and muscle exam. Your baby may need to see a pediatric neurologist for more advanced exams.
If they suspect your child has congenital muscular dystrophy, they may recommend any of the following diagnostic tests:
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This may seem like a lot of tests. And it can be emotionally difficult to watch your baby go through them. But know that your baby’s provider wants to make sure they have an accurate diagnosis so they can provide the best care. Symptoms of CMD in infants can look like the symptoms of other conditions, like certain myopathies (muscle disorders) or other metabolic conditions, like glycogen storage diseases and mitochondrial diseases. So, it’s important to find the correct diagnosis.
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There’s currently no cure for congenital muscular dystrophy, though researchers are actively looking for one.
The main goal of treatment is to manage symptoms and improve your child’s quality of life. Treatments can vary depending on the type of congenital muscular dystrophy and may include:
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Your child may also be able to participate in a clinical trial for CMD. Talk with your child’s healthcare team to see if this is an option.
Your child will likely have a team of healthcare providers to manage CMD. Experts may include:
As congenital muscular dystrophy is a genetic condition, there’s nothing you can do at the present time to prevent it.
If you’re concerned about the risk of passing on muscular dystrophy or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counseling. In some situations, prenatal testing may be able to diagnose the condition in early pregnancy.
It’s difficult for researchers and healthcare providers to predict the prognosis (outlook) of congenital muscular dystrophies with certainty. Your child’s healthcare team will provide as much insight as possible about what to expect while your child is in their care.
In general, congenital muscular dystrophies tend to be more severe and progress more quickly than muscular dystrophies that begin in late childhood or adulthood.
The life expectancy of children with congenital muscular dystrophy depends on how quickly the condition progresses (worsens) and which muscles are affected. The most common causes of death in these conditions are respiratory or cardiac complications due to muscle weakness.
If your child has congenital muscular dystrophy, it’s important to advocate for them to ensure they get the best medical care and as much access to therapy as possible. Advocating for care can help them have the best possible quality of life.
You and your family may also want to consider joining a support group to meet others who can relate to your experiences.
If your child has CMD, they’ll need to see their team of healthcare providers regularly to receive treatment and monitor their symptoms.
It may be beneficial to ask the following questions if your child has received a CMD diagnosis:
Understanding your child’s congenital muscular dystrophy (CMD) diagnosis can be overwhelming. But know that your child’s healthcare team will offer a robust management plan that’s unique to them. It’s important to make sure you, your child and your family are getting the support you need and to stay attentive to your child’s health. Your child’s healthcare team will be there to support them and your family every step of the way.
Last reviewed on 02/15/2024.
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