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A disease with many forms
Muscular dystrophy is not a single disease, but a general name for what is actually 9 different forms of the disease. In this article I will tell you the names of each form with a brief description and then I will discuss how it’s diagnosed, the various treatments, therapies and medications that are used for managing this disease. Lastly, I will give some recommendations for equipment that will be needed to accommodate the child with this disability. By the end of this blog, you will have the answer to “what is muscular dystrophy?” and will know a great deal more of the type of equipment you will need.
Hereditary disease
Muscular dystrophy (MD) is an inherited disease that progressively weakens the muscles that control movement also known as “voluntary muscles” with some forms of the disease affecting the organs such as the heart. Genetics play a key role in this and is responsible for the different variations.
Nine different types of MD
There are 9 different forms of MD and I will list them below with a brief explanation. All forms of this disease are inherited or in other words, linked to a genetic disorder.
1. Duchenne. This is the most common type and it mostly affects boys. Duchenne’s muscular dystrophy (DMD) is caused by a genetic flaw that affects the muscles. The symptoms usually show by age 1 to 4 and rapidly progress. Usually by 9 or 10 years of age, the child requires a wheelchair.
2. Myotonic (Steinert’s disease). This is the most common form of muscular dystrophy in adults. It can appear anywhere from early childhood to adult age. In rare cases it appears in newborns. Myotonia means stiffening of muscles or prolonged muscle spasms and symptoms will get worse in cold weather. This form of MD affects the central nervous system (brain and spinal cord), the heart, gastrointestinal tract and hormones. With this type of MD, there is a decreased life expectancy.
3. Becker. This form is similar to Duchenne MD but is much milder. The symptoms appear later and progress more slowly. Symptoms can appear anywhere between age 2 and 16 or can appear as late as age 25. Becker muscular dystrophy affects only males (1 in 30,000) and causes heart problems. These individuals can usually walk in their late 30s and live well into late adulthood.
4. Limb-girdle. Limb-girdle MD affects both male and females and occurs anywhere from teenage years to early adulthood. The muscle weakness starts in the hips and progresses to the legs, arms and shoulders. Within a 20-year time span, the person has either a very difficult time walking or cannot walk at all. The lifespan is shortened to either middle-age or late adulthood.
5. Facioscapulohumeral. This form of MD affects the face, shoulder blades, upper arm and includes both males and females. It appears anywhere from the teenage years to early adulthood. This form can range from being very mild to severely disabling. If affecting the face, it may interfere with the ability to speak or chew. The progression of this disease can be slow with spurts of rapid muscle deterioration, however many of these people can walk throughout their lifetime and live a normal life span.
6. Congenital. Congenital means present at birth. Just as the name implies, onset of this form is “at birth” and is characterized as muscle weakness, severe shortening or shrinking of muscles that causes joint problems. These children usually have problems with seizures because the central nervous system (brain and spinal cord) has been affected. Typically, these children do not attain walking and their lifespan is shortened.
7. Oculopharyngeal. This form affects the eyes and throat. Males and females are affected in their 40s, 50s and 60s and is a slowly progressing disease. It eventually will affect the ability to swallow and cause choking episodes. This group of people may also experience episodes of pneumonia.
8. Distal. This rare form affects adult men and women. It’s called distal because it affects the forearms, hands, lower legs, and feet. It is the less severe form because it progresses very slowly and affects fewer muscles than the other forms of MD.
9. Emery-Dreifuss. Onset of this form of MD is middle childhood to early teens. The progression is very slow and many survive to late adulthood. This form is rare and mostly affects boys, however because of certain gene mutations can affect girls. Disease progression involves muscle weakness and wasting in the shoulders, upper arms, and lower legs. Muscle weakness can spread to chest and pelvic muscles.
How is it diagnosed?
Children with a positive family history are especially at risk for muscular dystrophy. They should be monitored for symptoms which generally do not appear until the preschool years. There are blood tests your doctor will order looking for signs of muscle loss or deterioration. Included with the blood tests your doctor may order genetic testing for you and your child to see if either one of you has the gene causing MD. Muscle biopsy (a small piece of muscle tissue is removed) will be ordered as well for examination. Electromyography (EMG) is a diagnostic procedure to assess the health of muscles and the nerve cells that control them (motor neurons) and will be ordered along with the other tests.
How is it treated?
The therapeutic management of a child with MD is aimed at maintaining the ability to walk and have independence for as long as possible as muscle weakness progresses. Surgery, bracing, physical therapy and medications are all used in treating this disease. As the disease progresses, therapy is aimed at maximizing sitting capabilities, respiratory function and self-care. Also, prompt attention to respiratory infection, such as colds, flu or chest colds is needed to prevent serious complications.
Although there is no cure for MD, several medications will be prescribed for your child. Steroids are given to help improve muscle strength, breathing and decrease weakness. Anticonvulsants to treat and prevent seizures will also help reduce muscle spasms. Immunosuppressants may be given to help prevent some muscle cell damage. Also, medications may be prescribed for your child to target the gene dystrophin, namely Eteplirsen (Exondys 51) and golodirsen (Vyondys 53) which will likely increase the level of the gene.
Physical therapy plays a big role in treatment of this disease and helps to strengthen the muscles and joints and helps to prevent contractures (a condition of shortening and hardening of muscles, tendons, or other tissue, often leading to deformity and rigidity of joints).
Respiratory therapy is another big factor in care of a child with MD. Muscle weakness can involve the lungs and make breathing difficult. A respiratory therapist can teach you and your child how to use a nebulizer properly and also teach breathing exercises to maximize breathing capability.
Speech therapy is another area that will help your child if swallowing or speech has become a problem. The speech therapist will teach how to strengthen the facial and mouth muscles to help with swallowing and talking. When it comes to your child being able to communicate, communication boards really are a great tool and the speech pathologist/therapist will use this with your child teaching him how to communicate.
Surgery may sometimes be needed to correct either a contracture, a spine deformity, or other complications that may arise.
Braces and walkers
Braces and walkers also provide a way for your child to be mobile. Usually, physical therapists will use walkers and standers early in the treatment to provide and boost better blood flow which in turn will help build stronger bones. This is also a means for your child to be mobile and have some independence. Leg braces are fitted by orthopedic doctors and can help keep the muscles flexible, which aids in slowing the progression of contractures, which occur when a muscle and its tendon shorten and reduce flexibility.
The need for a wheelchair
The child with MD will eventually require a wheelchair. This is because weakness in the large muscle of the legs makes it difficult to stand, walk, kneel or climb. Even after your child has been fitted with leg braces, he will still need to have a wheelchair.
The home environment
Your home including the bathroom will need to be modified in order to fit a wheelchair and other necessary mobility aids your child will need. You will need to be taught how to perform basic nursing tasks and will be referred to agencies that can assist you with home care and equipment.
Please see my article for how to bathe a child with cerebral palsy as I give step-by-step instructions for bathing and I have given my recommendations for both a Hoyer lift and bath seat for these special needs kids.
Recommendations for equipment
Wheelchairs can be quite costly and you can get the very basic model up to one with all the bells and whistles. However, you can be prepared to pay a high price and insurance companies do not reimburse for the “bells and whistles.”
I was very pleased to see that Amazon has such a high-quality, affordable wheelchair for kids with special needs. This wheelchair will accommodate any child who needs good head support and reclining if unable to sit up. It is lightweight and has anti-tippers.
Product Specifications
- Seat width: 38cm (15 inches)
- Seat depth: 36cm (14 inches)
- Weight-bearing capacity: 75kg (165 pounds)
If the specifications are right for your child, you can purchase it here.
Another great choice for a wheelchair is the Wenore Lightweight Folding Children’s Wheelchair Driving, Cerebral Palsy Children’s Wheelchair Car Multi-Function Disabled Children’s Full-Lying Flat-Bed Wheelchair Stroller.
This wheelchair not only has the tilt-in-space feature but also will open up to lay flat. Click on the link above or here to learn more about this one and purchase! It too has a great price and is affordable.
My final thoughts
It is my sincerest desire that you found this post helpful to you and I welcome you to check back often as I will be continuing to write more articles on this subject and give recommendations for other needed equipment. For this article’s purposes, I wanted to give a background on MD and its effects and what we can do to help all children live the highest quality of life possible.
Questions or comments?
Please feel free to leave me your questions or comments in the comment section below and I will get back to you as soon as I can!
Always the best for our babes,
Evelyn