Most Common Form of Muscular Dystrophy in Children

Most Common Form of Muscular Dystrophy in Children

About MD

Muscular dystrophy (MD) is a genetic disorder that slowly compromises the body’s muscles. It’s caused by inaccurate or missing genetic information that avoids the body from making the proteins had to develop and maintain healthy muscles.

A child who is detected with MD slowly loses the ability to do things like walk, sit upright, breathe easily, and move the arms and hands. This increasing weakness can lead to other illness.

There are a number of major kinds of muscular dystrophy, which can impact the muscles to differing degrees. In many cases, MD begins triggering muscle issues in infancy; in others, symptoms do not appear until their adult years.

There is no cure for MD, however researchers are quickly finding out more about how to prevent and treat it. Physicians are likewise working on improving muscle and joint function and slowing muscle deterioration so that those with MD can live as actively and independently as possible.

Muscular dystrophy can appear in infancy as much as middle age or later, and its type and seriousness are figured out in part by the age at which it happens. Some types of muscular dystrophy affect only males; some people with MD take pleasure in a normal life expectancy with mild symptoms that progress really slowly; others experience swift and severe muscle weak point and wasting, passing away in their late teenagers to early 20s.

The different types of MD impact more than 50,000 Americans. Through advances in medical care, children with muscular dystrophy are living longer than ever before.

First Symptoms

Many kids with muscular dystrophy follow a regular pattern of advancement during their first couple of years of life. But in time they establish issues with motion. A child who has MD might start to stumble, waddle, have problem going up stairs, and toe walk (walk on the toes without the heels hitting the floor). A child may start to struggle to get up from a sitting position or have a tough time pressing things, like a wagon or a tricycle.

Kids with MD often develop enlarged calf muscles (called calf pseudohypertrophy) as muscle tissue is damaged and changed by fat.

Medical diagnosis

When first thinking that a child has muscular dystrophy, a doctor will do a physical examination, take a household history, and inquire about any issues– especially those affecting the muscles– that the child may be having.

In addition, the doctor may do tests to see what kind of MD is involved and to dismiss other diseases that might cause the issue. These may include a blood test to measure levels of serum creatine kinase, an enzyme that’s released into the blood stream when muscle fibers are breaking down. High levels suggest that something is causing muscle damage.

The doctor also may do a blood test to inspect the DNA for gene problems or do a muscle biopsy. In a muscle biopsy, the doctor surgically eliminates a little sample of muscle and looks at it under the microscope. The muscle cells of a person with MD have changes in look and might have low levels of dystrophin, a protein that helps muscle cells keep their shape and length.

Most Common Form of Muscular Dystrophy in Children

Types of Muscular Dystrophy

The various types of muscular dystrophy impact different sets of muscles and cause different degrees of muscle weak point.

Duchenne muscular dystrophy is the most common and the most severe type of MD. It impacts about 1 from every 3,500 young boys. (Women can bring the gene that causes the disease, however they normally have no symptoms.) This kind happens because of a problem with the gene that makes dystrophin. Without this protein, the muscles break down and a child ends up being weaker.

Children with Duchenne MD typically start to have problems around age 5, as the pelvic muscles start to weaken. Most kids with this form need to use a wheelchair by age 12. Gradually, their muscles weaken in the shoulders, back, arms, and legs.

Ultimately, the breathing (breathing) muscles and heart muscle likewise may weaken in the teenage years, requiring additional treatments. Although many kids with Duchenne MD have typical intelligence, about a third experience learning disabilities and a little number are intellectually handicapped.

Advances in treatment are helping kids with Duchenne to live longer and healthier lives.

While the occurrence of Duchenne is known, it’s uncertain how common other kinds of MD are since the symptoms can vary so extensively in between individuals. In reality, in some individuals the symptoms are so moderate that the disease goes undiagnosed.

Becker muscular dystrophy is similar to Duchenne, however is less typical and advances more slowly. This kind of MD, which affects about 1 in 30,000 kids, is caused by inadequate production of dystrophin, too.

Symptoms begin during the teen years, then follow a pattern much like Duchenne MD. Muscle weak point first starts in the pelvic muscles, then moves into the shoulders and back. Lots of children with Becker MD have a regular life span and can lead long, active lives without using a wheelchair.

Myotonic dystrophy, also known as Steinert’s disease, is the most typical adult form of MD, although half of all cases are identified in individuals under Twenty Years old. It is caused by a portion of a specific gene that is larger than it needs to be. The symptoms can appear at any time during a child’s life.

The primary symptoms include muscle weak point, myotonia (where the muscles have difficulty relaxing as soon as they contract), and muscle wasting (when the muscles shrink gradually). Kids with myotonic dystrophy also can have cataracts and heart issues.

Limb-girdle muscular dystrophy impacts boys and women similarly. Symptoms usually begin when kids are in between 8 and 15 years of ages. This kind progresses gradually, affecting the pelvic, shoulder, and back muscles. The severity of muscle weak point varies– some kids have only mild weak point while others develop severe impairments and as grownups have to use a wheelchair.

Facioscapulohumeral muscular dystrophy can affect both boys and girls, and the symptoms usually first appear during the teenager years. It has the tendency to advance slowly. Muscle weakness first develops in the face, making it challenging for a child to close the eyes, whistle, or puff out the cheeks. The shoulder and back muscles gradually end up being weak, and kids have difficulty lifting things or raising their hands overhead. Over time, the legs and pelvic muscles likewise may lose strength.

Other types of MD, which are uncommon, include distal, ocular, oculopharyngeal, and Emery-Dreifuss.

Caring for a Child With MD

There’s no remedy for MD yet, however physicians are working to enhance muscle and joint function, and slow muscle degeneration.

If your child is diagnosed with MD, a team of medical professionals will work with you and your family, consisting of: a neurologist, orthopedist, pulmonologist, physical and occupational therapist, nurse practitioner, cardiologist, registered dietician, and a social worker.

Muscular dystrophy is frequently degenerative, implying that it gradually impacts more organs and can’t be reversed. So, kids may pass through different stages as it progresses and need different kinds of treatment. During the early stages, physical therapy, joint bracing, and medications are often used.

During the later stages, physicians might use assistive devices, such as:

  • physical therapy and bracing to enhance flexibility
  • power wheelchairs and scooters to enhance mobility
  • a ventilator to support breathing
  • robotics to help carry out routine day-to-day tasks

Physical Therapy and Bracing

Physical therapy can assist a child keep muscle tone and minimize the seriousness of joint contractures with exercises that keep the muscles strong and the joints flexible.

A physiotherapist likewise uses bracing to assist prevent joint contractures, a stiffening of the muscles near the joints that can make it harder to move and can lock the joints in painful positions. By supplying additional assistance in simply the right locations, bracing can extend the time that a child with MD can walk independently.


If a child has Duchenne muscular dystrophy, the doctor might recommend the steroid prednisone to help slow the rate of muscle deterioration. By doing so, the child may have the ability to walk longer and live a more active life.

There is some debate over the best time to start prednisone treatment, but a lot of medical professionals prescribe it when a child is 5 or 6 years of ages or when the child’s strength starts to considerably decline. Prednisone does have side effects, however. It can cause weight gain, which can put even higher strain on already weak muscles. It likewise can cause a loss of bone density and, perhaps, cause fractures. If prescribing prednisone, your doctor will closely monitor your child.

Spine Fusion

Numerous children with the Duchenne and Becker forms of MD develop severe scoliosis– an S- or C-shaped curvature of the spine caused by back muscles that are too weak to hold the spine upright.

Some kids with severe cases undergo spine fusion, a surgery that can lower pain and lessen the curvature so a child can sit upright and conveniently in a chair. This surgery guarantees that the spinal column curvature doesn’t have an effect on breathing. Normally, back blend surgery only requires a short hospital stay.

Respiratory Care

Many kids with muscular dystrophy likewise have deteriorated heart and breathing muscles. As an outcome, they cannot cough out phlegm and in some cases establish breathing infections that can rapidly end up being severe. Good general health care and routine vaccinations are particularly crucial for children with muscular dystrophy to help prevent these infections.

Assistive Devices

A range of brand-new innovations can supply self-reliance and movement for kids with muscular dystrophy.

Some kids with Duchenne MD might use a manual wheelchair once it becomes hard to walk. Others go directly to a motorized wheelchair, which can be equipped to fulfill their requirements as muscle degeneration advances.

Robotic innovations also are under advancement to assist kids move their arms and perform activities of day-to-day living.

If your child would gain from an assistive technological device, call your regional chapter of the Muscular Dystrophy Association to inquire about financial help that may be readily available. In many cases, health insurers cover the cost of these devices.

The Look for a Treatment

Scientists are rapidly discovering more about what causes the genetic disorder that results in muscular dystrophy, and about possible treatments for the disease.

To read more about the most current research on MD, get in touch with the local chapter of the Muscular Dystrophy Association or speak with your doctor, who also can tell you about clinical trials on MD.


How useful was this post?

Click on a star to rate it!

Average rating 0 / 5. Vote count: 0

No votes so far! Be the first to rate this post.

We are sorry that this post was not useful for you!

Let us improve this post!

Tell us how we can improve this post?

Click to rate this post!
[Total: 0 Average: 0]

Оставить комментарий

Ваш адрес email не будет опубликован. Обязательные поля помечены *

You can use HTML tags and attributes:

<a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <s> <strike> <strong>