Duchenne Muscular Dystrophy (DMD) Symptoms

Duchenne muscular dystrophy (DMD) is a genetic disorder that causes muscle weakness and wasting. This results in changes in joint and bone structure, which may affect organs resembling the lungs and result in an array of other symptoms.

DMD is an X-linked recessive disorder, a genetic pattern that causes it to develop almost all the time in males. DMD is brought on by mutations within the dystrophin gene. People with DMD don’t produce dystrophin, a protein that strengthens muscle fibers and controls contraction and rest.

While other muscular dystrophies can appear in adults later in life, DMD affects people from birth. Babies born with DMD begin to point out signs of disease during their first two years of life. Early symptoms of muscle weakness begin within the legs and arms, causing delays in gross motor skills resembling walking.

In this text you’ll study DMD symptoms—once they begin, sorts of progressive and chronic symptoms, how parents and specialists can discover symptoms, and the right way to manage symptoms and treatment unintended effects.

When Do Duchenne Muscular Dystrophy Symptoms Begin?

Evidence of DMD can appear as early as 2 to three months of age. Babies with DMD may fail to fulfill early milestones resembling head control. However, it often takes time to distinguish these symptoms of DMD from other developmental delays.

With early symptoms, there isn’t any muscle wasting or weakness, but there are developmental delays. It isn’t until more classic signs of the disease develop that DMD can be suspected.

If babies proceed to fail to fulfill milestones, resembling sitting independently or walking as they grow, a healthcare provider might search for other typical signs of DMD.

These signs normally develop across the ages of two to three years and include symptoms resembling difficulty climbing stairs, toe walking, and the presence of Gower’s sign, where a baby stands by placing their hands on their shins and walking them up their legs.

Physical DMD Symptoms in Children

Symptoms of DMD in children involve muscle loss and weakness. These symptoms include:

• Delayed ability to take a seat, stand, or walk
• Delayed speech
• Increased size of the calf muscles
• Weakness within the muscles of the upper legs and arms
• Muscle loss within the legs and arms
• Waddling gait (how an individual walks)

Progressive and Chronic DMD Symptoms

As children age, DMD symptoms progress and will cause complications. Progressive and chronic DMD symptoms include:

• Scoliosis (a curvature of the spine)
• Difficulty respiratory
• Cardiomyopathy (a change within the structure of the guts)
• Joint contractures (a joint is stuck in a bent position and may’t be moved passively or actively)
• Muscle loss and weakness of the thighs and chest muscles
• Loss and weakness of the muscles within the rib cage, which may result in respiratory infections and, ultimately, respiratory failure
• Involvement of the muscles of the gastrointestinal tract, slowing the digestion process, causing constipation and diarrhea
• Between the ages of 10 to 23 most kids with DMD will need a wheelchair as a result of the progression of the disease.

Complications and Emergency Symptoms

In some cases, DMD could cause complications that require emergency medical attention. Often, these are related to the lungs and heart.

As muscle loss and weakness affect the realm across the lungs, individuals with DMD develop into more in danger for serious infections, resembling pneumonia. They might also need assistance with respiratory and coughing. This can result in an emergency where assisted ventilation is obligatory for survival.

The heart is a muscle that can also be affected by DMD. People with DMD can experience heart failure, atrial fibrillation, and other rhythm abnormalities that might also require emergency medical attention.

How Parents Could Identify DMD Signs

Parents often sense if there’s something not quite right with their child. When considering back, parents who’ve children with DMD recall seeing signs around 6 months, although the diagnosis didn’t occur until the ages of three to five.

In some cases, parents were dismissed as being overly apprehensive. However, that ought to never deter you from voicing your concerns. If you notice any signs of DMD, resembling failing to fulfill early milestones, bring them as much as your child’s provider.

DMD is a rare disease. Most children who fail to fulfill milestones won’t have DMD. However, parents who suspect their child can have DMD should note their concerns.

Signs of DMD that oldsters can discover and confer with their child’s healthcare provider include:

• Delays in speech and language development
• Delays in meeting milestones, resembling sitting up
• Difficulty sitting, standing, walking
• Trouble walking up or down stairs
• Gower’s sign, walking hands up legs to face
• Difficulty maintaining with other kids during play

How Specialists Identify DMD Symptoms

Specialists will search for most of the same signs parents can discover. Researchers have noted that some early delays may be signs of DMD in infants. These include:

• Poor head control
• Difficulty sitting independently
• Not crawling
• Failing to start walking by 18 months

Around age 3 to 4 a specialist will begin to search for the next more classical symptoms:

• Difficulties walking, running, jumping
• Gower’s sign
• A waddling gait
• Struggling to walk up stairs
• Walking on the toes
• Muscle pain or cramps
• Behavioral issues
• Speech delay
• Autism spectrum disorder (a developmental and neurological disorder)
• Calves which can be large as compared to other muscles of the legs

If DMD is suspected, a specialist also can run blood tests. A blood test to examine creatine kinase (an enzyme present in the muscles) levels could be very telling.

Elevated creatine kinase levels are related to DMD. If levels are elevated, a specialist can investigate further. The specialist may order genetic tests and muscle biopsies (removing a sample of tissue for evaluation in a lab) to substantiate or rule out DMD.

Managing DMD Symptoms and Treatment Side Effects

While there isn’t any cure for DMD there are treatment options to assist alleviate symptoms and improve quality of life. The standard protocol for treating DMD focuses on the muscles, heart, and lungs.

Corticosteroids are prescribed to assist muscle function and delay the necessity for a wheelchair and effects of the disease on the guts. Physical therapy also can help individuals with DMD remain mobile for longer.

As respiratory function decreases, non-invasive ventilation methods are used to assist with respiratory.

Medications resembling angiotensin-converting enzyme (ACE) inhibitors and beta-blockers may help with DMD’s effects on the guts.

While effective, long-term use of corticosteroids can result in unintended effects resembling weight gain, osteoporosis (progressive lack of bone mineral density and bone mass), bone fractures, and behavioral changes. Physical therapy may help people on these medications to stay as mobile and robust as possible to avoid weight gain and effects on the bones.

Other medications and therapies are being researched that address the genetic component of the disease and show promise in slowing progression.

Summary

Duchenne muscular dystrophy is an X-linked genetic disorder that nearly exclusively affects males and causes muscle loss and weakness. DMD is a progressive disease diagnosed throughout the first 3 to five years of life.

Symptoms of DMD include difficulty sitting independently, walking, running, and standing, delayed speech, and weakness within the upper legs and arms. As the disease progresses, other symptoms arise, including scoliosis, joint contractures, cardiomyopathy, and difficulty respiratory.

By the age of 10 to 12, most individuals with DMD will need a wheelchair. When DMD affects the lungs and heart, emergencies can arise as a result of an absence of oxygen or heart failure.

Parents of kids with DMD often note delayed milestones and other classic signs, resembling difficulty walking or going up stairs. Specialists examine these and conduct further testing to find out whether someone has DMD.

Standard treatment for DMD includes corticosteroids and physical therapy, but treatment options are being researched that show promise in delaying the progression of the disease.