There are more than 30 types of muscular dystrophy, a group of genetic conditions that cause progressive muscle weakness and atrophy (loss) over time. One is called congenital muscular dystrophy (CMD), which includes conditions that are present from birth, even if symptoms do not appear immediately. CMD is rare, affecting fewer than 1 in every 100,000 children around the world. People of any biological sex can develop CMD.

You may have heard of Duchenne muscular dystrophy (DMD), which, like CMD, causes progressive muscle weakness and is caused by a genetic mutation (change) that affects muscle proteins. However, DMD is not considered to be a type of CMD because it usually appears in early childhood rather than at birth and follows a different pattern of inheritance.

If you have a loved one who has been diagnosed with CMD, you may have questions about what this means. This article covers the basics of CMD, including its causes, diagnosis, treatment options, and life expectancy.

What Causes Congenital Muscular Dystrophy?

CMDs are caused by genetic mutations. They’re not caused by environmental factors, pregnancy complications, or infections.

Most types of CMD are inherited in an autosomal recessive pattern, meaning a child inherits one mutated gene from each biological parent. The parents are typically carriers of the gene mutation but do not have symptoms themselves. In some cases, CMD results from a spontaneous (de novo) mutation, meaning the genetic change occurs randomly and is not inherited from either parent.

Types of Congenital Muscular Dystrophy

There are several types of CMD, each classified based on the specific gene mutation involved.

LAMA2-Related Muscular Dystrophies

About 30 percent to 40 percent of cases of CMD are due to a mutation to a gene called LAMA2. This form of CMD often results in severe muscle weakness, preventing children from developing the ability to walk. Many individuals with LAMA2-related CMD also experience macroglossia (an enlarged tongue), which can make speaking difficult. Additionally, seizures are common in this type of CMD.

Dystroglycanopathies

Up to 1 in every 4 children with CMD have a type called dystroglycanopathy (DGP), which is caused by mutations affecting alpha-dystroglycan, a protein essential for muscle, brain, and eye function. In addition to muscle weakness, DGPs often lead to brain and eye abnormalities, developmental delays, seizures, and intellectual disabilities.

Three major subtypes of DGP include:

• Walker-Warburg syndrome, one of the most severe forms
• Fukuyama CMD, which is more common in Japan
• Muscle-eye-brain (MEB) disease, which also affects vision and brain development

Collagen VI-Related Dystrophies

Collagen VI-related dystrophies (COL6-RDs) result from mutations in the COL6A1, COL6A2, or COL6A3 genes, which affect the structure of collagen VI, a protein that supports muscle stability. These conditions vary in severity, from Bethlem muscular dystrophy (a milder form where some individuals retain mobility) to Ullrich CMD (a more severe form that often leads to loss of mobility early in life).

Selenoprotein N-Related Myopathies

Selenoprotein N-related myopathies (SEPN1-RMs) are the rarest forms of CMD and are caused by mutations in the SEPN1 gene. These conditions primarily affect the muscles of the head, neck, and respiratory system, often leading to early breathing difficulties.

Signs and Symptoms of Congenital Muscular Dystrophy

The main symptom of CMD is muscle weakness, which can appear in different ways. Most babies with CMD have hypotonia (low muscle tone), often described as a “floppy baby” appearance. Their arms and legs may rest loosely and move less often than expected. Over time, muscles and joints can become stiff and difficult to move, a condition known as contractures.

Muscles aren’t just used for movement — they also play a role in breathing, feeding, and heart function. Weakness in these muscles can cause:

• Breathing difficulties, leading to a weak cry and, later, trouble taking deep breaths or clearing mucus from the lungs
• Feeding challenges, including a poor suck reflex, which can make it hard for infants to get enough nutrition
• Heart problems, such as cardiomyopathy (a disease of the heart muscle), which can lead to heart failure over time

Other symptoms depend on the specific type of CMD. For example, some forms — like MEB disease —affect brain development, vision, and cognitive abilities, while others only involve the muscles.

Not every child with CMD will have all of the above symptoms — symptoms depend on their specific type of CMD. Complications can be prevented or delayed with supportive care and other forms of treatment.

Congenital Muscular Dystrophy Treatment

There is no cure for CMD, but early interventions and specialized care can help manage symptoms and improve quality of life. Treatment focuses on supportive care, and it’s important to build a diverse team of healthcare providers, including:

• Respiratory therapists help monitor and manage breathing difficulties caused by weak respiratory muscles.
• Speech-language pathologists work with individuals who have difficulty speaking or swallowing due to weak facial and throat muscles.
• Physical and occupational therapists focus on maintaining muscle strength, preventing contractures, and improving daily mobility.
• Registered dietitians ensure individuals with CMD receive adequate nutrition despite feeding challenges.
• Mental health professionals support both children and caregivers in coping with the emotional impact of CMD.

Many CMD treatment centers offer in-home services to provide care in a comfortable and familiar environment.

Medical Therapy

Since CMD is a progressive condition, treatments aim to slow disease progression and manage complications, particularly those affecting the lungs and heart.

• Corticosteroids (steroids) may help delay muscle weakness and support respiratory function.
• Heart medications can slow CMD-related heart disease
• Emerging therapies are being developed to replace missing muscle proteins, and some are currently in clinical trials. If you’re interested in clinical trials, talk to a healthcare provider to explore potential options.

Surgical Therapy

People with CMD may have a variety of surgeries. Because feeding difficulties are common, they often receive surgery to place feeding tubes for safe nutrition delivery. These minor procedures can insert gastrostomy tubes (G-tubes) or gastrojejunostomy tubes (GJ-tubes) through which formula can be delivered. They may also have surgery to correct scoliosis, a condition where the spine curves abnormally. This can cause pain, discomfort, and breathing problems if left untreated.

Nutrition Care

Regardless of their method of receiving nutrition, children with CMD often require nutritional support. Many children with CMD face challenges maintaining a healthy weight and getting adequate nutrients due to feeding difficulties. Providing them with the right amount of fluid and nutrition is a careful science that’s best advised by a registered dietitian.

Breathing Support

One major complication in children with CMD is weakness of the muscles that help them breathe. If your child has severe difficulty breathing, machines called ventilators can help them breathe. This can be set up at home with the support of caregivers or home nursing. Additionally, cough-assist devices may help clear mucus from the lungs, reducing the risk of infections like pneumonia.

Speech Therapy

Due to weakened muscles around the face, neck, and chest, many children experience trouble speaking and difficulty swallowing. This can lead to nutritional problems or serious lung infections, like pneumonia. Speech pathologists can help determine safe ways to eat and work on strengthening some of these muscles.

Physical Therapy

Physical and occupational therapists help with muscle strength, tone, and mobility. They can help reduce contractures, prevent muscle wasting, and relieve pain and discomfort. They may recommend assistive devices to aid in muscle function and mobility.

Assistive Devices

There’s a lot of technology that can help people with CMD navigate the world. The level of assistance that children need usually changes over time. Options for mobility assistance include canes, walkers, and wheelchairs. Healthcare providers may also recommend braces and orthotics to support weakened muscles and prevent contractures.

Mental Healthcare

Living with CMD can bring emotional and psychological challenges for both individuals and caregivers. Therapists, psychologists, or psychiatrists can help children and families navigate stress, anxiety, and depression. Support groups may also provide connection and encouragement.

Life Expectancy With Congenital Muscular Dystrophy

Life expectancy with CMD varies widely and depends on several factors, including the specific subtype, the severity of symptoms, and access to medical care. Some types of CMD progress slowly, allowing individuals to live well into adulthood, while more severe types may shorten lifespan.

The most common causes of life-threatening complications in CMD are heart or lung problems due to progressive muscle weakness. Weakness in the diaphragm and chest muscles can lead to breathing difficulties, while cardiomyopathy can result in heart failure.

Early intervention and specialized care can help delay complications and improve quality of life. A multidisciplinary CMD care team can help manage symptoms and provide lifesaving interventions, such as noninvasive ventilation, cough-assist devices, and heart medications.

Talk With Others Who Understand

On myMDteam, the social network for people with muscular dystrophy and their loved ones, members come together to ask questions, give advice, and share their stories with others who can relate to their muscular dystrophy experiences.

Do you or a loved one have congenital muscular dystrophy? What advice or encouragement would you share with others navigating this journey? Share your experience in the comments below, start a conversation on your Activities page, or connect with like-minded members in Groups.