What Are the Symptoms of Duchenne Muscular Dystrophy


Signs and symptoms of Duchenne muscular dystrophy, a rare, but severe form of muscular dystrophy, usually start to appear once a child reaches 2 years old.


gettyimages-1405611026-1024x683.jpg





Duchenne muscular dystrophy (DMD) is one of the most serious forms of muscular dystrophy, an inherited condition that causes severe muscle weakness and a significant loss of muscle control.





DMD is usually first diagnosed in early childhood. Learn to identify seven of the more common symptoms of this chronic condition.

Signs of Duchenne muscular dystrophy





DMD is a rare condition, affecting about 1 in 3,500 male births and far fewer female births, according to the National Organization for Rare Disorders (NORD). As other types of muscular dystrophy, DMD is a genetic disorder caused by alterations to type of protein called dystrophin, which helps preserve muscle cells.





The Muscular Dystrophy Association (MDA) reports that muscle weakness or other muscle-related problems usually become noticeable by the time a child is 2 or 3 years old, though some signs may be evident during infancy.





The following are among the more common signs and symptoms of DMD:





Children with DMD often adopt a waddling gait or tend to walk on their toes (which can lead to overdeveloped calf muscles). They may also have difficulty climbing stairs. Running and jumping can also be challenging, especially as the disease progresses.





As a child gets older, scoliosis (curvature of the spine) may develop. The risk of bone fractures also increases.





Because DMD can affect the muscles in the digestive system, a child with the condition may develop problems such as diarrhea or constipation.





Problems with the heart muscle (cardiomyopathy) tend to develop later, often during a person’s teen years. Cardiomyopathy can also lead to irregular heartbeats (arrhythmias) and heart failure.





Because cardiomyopathy symptoms may go unnoticed for years, it’s important for anyone with DMD to have routine evaluations of heart health that should include imaging, such as echocardiograms or electrocardiograms.





Having DMD can often lead to a person having difficulty with reading, writing, math, and other skills. Challenges with attention and impulse control may also be present. These difficulties don’t necessarily correspond to intellectual deficiencies, though there can be some cognitive impairment along the way.

6. Muscle atrophy and weakness





The muscles closest to the trunk, such as those in the upper legs, pelvic region, shoulders, and upper arms, are among the first to develop weakness and atrophy (a thinning or wasting away of the muscles), according to NORD.







Weakness in the major muscle groups can make it difficult for children to raise their arms, rise up from a bed or sitting position, or get up from a fall. Falls and problems with coordination are also common. By age 13 years or so, many people with DMD use a wheelchair.





Muscle atrophy may later develop in the lower arms and legs, as well as the neck, though these changes may not be as pronounced as the initial muscle-related developments.

7. Respiratory difficulties





DMD may also affect the lungs and muscles involved with breathing, such as the diaphragm. Shortness of breath can occur, especially with exertion.





Physical therapy and orthotic devices, such as leg braces, can be helpful in building muscle and joint strength, supporting flexibility, and maintaining stability in people with DMD.





Various other complications, such as cardiomyopathy and breathing challenges, will require specialists in those areas to join the care team.





To help treat the underlying cause of DMD itself, researchers have been working on gene therapy. In 2023, the Food and Drug Administration (FDA) approved the first gene therapy for DMD, delandistrogene moxeparvovec-rokl.





The medication codes for the mutated gene that’s interfering with the healthy production of the dystrophin protein. This treatment is not for everyone with DMD — it’s primarily used for treating DMD in children between ages 4 and 5 years old with certain genetic profiles. However, it is an encouraging step in the treatment of this challenging disorder.





According to the National Center for Advancing Translational Sciences, the timeline for DMD symptoms to progress and the types of and specific signs that first develop can differ greatly from one person to the next.





An abnormal gait, developmental delays, and other signs of DMD can also indicate other types of muscular dystrophy or completely unrelated conditions. That means talking with your doctor when signs first appear is essential to getting an accurate diagnosis.





Whether your child has a type of muscular dystrophy or other health concerns, responding quickly and working with their healthcare team are the most important steps you can take to increase the chances of getting the best outcome possible.



Source link

Leave a Reply

Your email address will not be published. Required fields are marked *