Muscular dystrophies are a group of genetic disorders that cause progressive muscle weakness. In muscular dystrophies, muscles break down over time, creating fatty deposits. Currently, there are more than 30 types of muscular dystrophies; the types vary from mild to severe and affect different muscles. Rate of progression of symptoms depends on the type of muscular dystrophy. Some types appear in childhood, while others do not cause symptoms until adulthood.

Common Types of Muscular Dystrophies

• Duchenne muscular dystrophy (DMD):This is the most common form of muscular dystrophy in children. It typically is diagnosed between ages 2 and 5; however, some children are diagnosed as young as 6 months. By age 12 to 14, children with DMD may need to use a wheelchair. This type can be associated with cardiomyopathies, progressive scoliosis and respiratory failure.
• Becker muscular dystrophy:This is the second most common type of muscular dystrophy. While similar to Duchenne muscular dystrophy, this type is less severe. Individuals with this type tend to be able to walk well into their 60s and have a normal lifespan. Cardiomyopathy is a common side effect.
• Emery-Dreifuss muscular dystrophy: This type causes weakness and contractures (joint tightness), and affects the lower leg and upper arm muscles. It also causes cardiac arrhythmias.
• Limb-girdle muscular dystrophy:This is a group of more than 20 inherited conditions that cause muscle loss and weakness over time, usually involving the muscles around the hips and shoulders.
• Myotonic dystrophy: This is the most common form of muscular dystrophy in adults. Symptoms can appear in infancy or childhood. It causes weakness and issues with muscle relaxation. It also can be associated with cardiac arrhythmias, cataracts, and endocrine and fertility issues.
• Congenital muscular dystrophies: This is a group of muscular dystrophies that can cause weakness, contractures and scoliosis.

Muscular Dystrophy Symptoms

• Muscle weakness (hypotonia or “floppy baby”)
• Frequent pneumonia or respiratory issues
• Delay in achieving motor milestones, or loss of motor skills
• Trouble getting up from sitting or lying down (Gowers’ sign)
• Awkward, clumsy movements
• Trouble climbing stairs
• Frequent trips and falls
• Inability to jump or hop well
• Walking on tiptoes
• Leg pain and cramping
• Unable to close eyes
• Unable to whistle, chew or swallow well
• Weakness in the shoulders and arms
• Joint tightness (contractures)

Treatment Options

Treatment plans are based on:

• The child’s age
• Muscular dystrophy type
• Extent of the condition
• How the child reacts to medications, procedures or therapies

Nonsurgical options can include:

• Physical therapy
• Braces and splints
• Positioning aids
• Medications
• Counseling

Very rarely, surgery may be considered to help the child stand or sit. Surgery may be needed if the child has scoliosis.

Your child may be referred to the multidisciplinary Norton Children’s Neuroscience Institute  Muscular Dystrophy Clinic.

Follow Up

Muscular dystrophy is a lifelong condition that affects many organ systems. Our team of specialists works to maximize each child’s functional potential in a multidisciplinary clinic setting.