Muscular Dystrophy: Causes, Symptoms, and Treatment Options
Being a parent of a child who has muscular dystrophy or living with a person who has this condition can be tough. You may feel like you are juggling too many responsibilities at once.
Every problem has a solution. you need to understand them better. The same applies to muscular dystrophy and its treatment and management. Sometimes one treatment may not give the results you are expecting. In that case, doctors may recommend you combine more than one treatment or therapy.
In short, what works better for you will become clear once you understand this condition and the treatment options available to you.
Keeping the same in mind, we have created this guide to help you get information and take control of your and your loved ones’ future. We have broken through everything you need to know. Be it practical caregiving tips or cutting-edge treatments like gene therapy, you will understand all treatment options better.
So get ready to understand muscular dystrophy and how to manage and treat it.
Key Takeaways
- MD is a group of inherited conditions causing progressive muscle weakness; early diagnosis is crucial.
- It is a genetic mutation that is either passed down or occurs spontaneously.
- It includes Duchenne, Becker, Limb-girdle, Myotonic, and Facioscapulohumeral MD, each affecting different muscles.
- Muscle weakness progresses from falls and walking issues to breathing and heart problems.
- MD diagnosis involves genetic tests, blood tests, muscle biopsies, and imaging like MRI or CT.
- Treatment options can be medication, physiotherapy, occupational therapy, Ayurvedic therapy, homeopathic therapy, stem cell therapy, gene therapy, and combination therapy.
- Know about the ongoing research on some novel treatment options.
What is Muscular Dystrophy?
A group of inherited neuromuscular diseases come under muscular dystrophy. These conditions cause progressive muscle degeneration and weakness. These conditions affect your skeletal muscles, which are responsible for movement, and gradually make it harder to perform everyday tasks.
There are more than 30 types of muscular dystrophy, each varying in how it develops, the muscles it affects, and its severity. However, progressive muscle degeneration and weakening are common in all types of muscular dystrophy. What’s more, some people eventually lose the ability to walk. That’s why early detection and intervention are important in this condition.
MD can be even more complicated because it can also impact the heart, lungs, digestive system, and brain function.
Muscular dystrophy is not contagious and cannot be caused by injury or physical activity. It is a genetic condition that requires early diagnosis and proper care to manage its challenges.
Causes of Muscular Dystrophy
The primary cause of MD is genetic mutations. Genetic mutations are changes in the genes responsible for producing essential muscle proteins like dystrophin, Your muscles weaken over time without these proteins and it might lead to disability.
These genetic muscle disorders are usually inherited which means they are passed down from one or both parents. The genetic causes as per the type of MD will be different. Let’s check them:
- It can be a recessive inheritance. Both parents pass down a faulty gene, giving the child a 25% chance of developing MD in recessive inheritance.
- It can be a dominant inheritance. In that case, a single faulty gene from one parent can cause MD, with a 50% chance of passing it to the child.
- It can be an X-linked inheritance. MD linked to the X chromosome, like Duchenne and Becker MD, is more common in males.
In some cases, MD can result from a new mutation in the genes, known as a spontaneous mutation, even without a family history.
It is important to understand these genetic causes as this knowledge will help you manage and treat this condition effectively.
Types of Muscular Dystrophy
MD includes many types. Each of these types affects a particular muscle and shows different sets of symptoms. Let’s understand the major types here:
Duchenne Muscular Dystrophy (DMD):
DMD is the most common and severe form of MD. It mostly affects boys and starts from early childhood. it’s because it is caused by a gene located in the x chromosome and males have only one x chromosome in their gene (males have XY chromosomes and females have XX chromosomes).
If your child has DMD, you will see the symptoms during 2-3 years of age. The child becomes wheelchair-bound at the age of 12 years. This involves the weakness of major involuntary muscles, such as the heart and lungs.
It causes progressive muscle weakness, particularly in the legs and hips, often leading to the inability to walk by the early teens.
Read more about DMD in our detailed Page.
Becker Muscular Dystrophy (BMD):
Similar to DMD but less severe, BMD appears later, usually in the teens or early adulthood. It progresses more slowly and allows individuals to retain mobility for a longer time.
You can read more about BMD in our detailed Page on the same.
Limb-Girdle Muscular Dystrophy (LGMD):
LGMD affects muscles around the shoulder and hips of a person. It can happen in both men and women. LGMD starts in childhood or adulthood and it may lead to difficulty in tasks like lifting objects or climbing the stairs.
Learn more about LGMD in our detailed Page.
Myotonic Muscular Dystrophy (MMD):
MMD is a type of MD in which muscle relaxation can cause problems. It is common in teens. The other symptoms of MMD include muscle weakness, wasting, cataracts, and heart problems.
It affects the central nervous system, gastrointestinal tract, heart, eyes, and glands that produce hormones.
Learn more about MMD here.
Facioscapulohumeral Muscular Dystrophy (FMD):
FMD is a type of Muscular Dystrophy that occurs in both men and women but it is more common in men. If your child has FMD, you will see that your child sleeps with their eyes slightly open, an inability to squeeze their eyes tightly, and an issue in bringing their lips together.
Learn more about FMD here.
Emery-Dreifuss Muscular Dystrophy (EDMD):
EDMD is a very rare form of MD, typically observed in late childhood to early teens. If you or your child has this muscular dystrophy, you will notice wasting muscles, weakness, and joint deformities. Cardiac arrest can occur in severe cases.
EDMD affects the muscles of your upper arms, shoulder, and lower legs.
Learn more about EDMD here.
Oculopharyngeal Muscular Dystrophy (OMD)
Oculopharyngeal dystrophy is a rare inherited disease with adult onset generally after the age of 40. It is a progressive disease, but the symptoms worsen very slowly.
Learn more about OMD here.
Congenital Muscular Dystrophy (CMD)
CMD is a type of muscular dystrophy that is noticeable either at or soon after birth. Muscular dystrophies are genetic conditions that mainly affect voluntary muscles and cause them to degenerate over time.
The appearance of muscle abnormalities seen in dystrophic conditions can vary greatly depending on the stage and severity of the disorder.
Learn more about CMD here.
Distal Muscular Dystrophy (DD)
Distal muscular dystrophy (DD) is a rare form of MD that typically affects the hands, feet, and lower legs.
Learn more about DD here.
Symptoms of Muscular Dystrophy
Progressive muscle weakness is a common symptom of all muscular dystrophy types. Other symptoms vary depending on the type and stage of progression. It affects muscle groups at different stages and times. Let us help you understand the symptoms in detail now.
Symptoms of most types of MD appear in childhood or the teenage years. Children and teens may experience the following symptoms in these early years:
- Falls due to weakened leg muscles.
- Walking with toes or waddling gait which is due to weakened hip or calf muscles.
- Problems while rising from a sitting or lying position.
- Trouble climbing stairs, jumping, or running.
- Delayed growth and learning disabilities.
As we have said above, progressive muscle weakness is a common symptom in all stages of MD but it becomes more prominent than before. The other symptoms at this stage include:
- Muscle cramps and stiffness. This can happen after some physical or mental exertion.
- Curved spine or scoliosis. It happens because the back becomes weak.
- Droopy eyelids or difficulty keeping eyes open. It happens especially in myotonic muscular dystrophy.
- Weakness in arms and shoulders after lifting objects or raising arms.
- Breathing difficulties because of their respiratory muscle weakness.
The essential body functions of a person are affected at this stage. Here are the symptoms that the person will experience:
- Heart problems like cardiomyopathy are common at this stage. This is because the heart muscles weaken.
- Vision issues like drooping eyes or difficulty focusing.
- Trouble while swallowing. It happens as the throat and neck muscles are impacted due to the disease progression.
- Loss of mobility can happen and in that case, the person will need a wheelchair and other supports and aids.
Diagnosis and Screening
Genetic testing is the primary method to diagnose muscle dystrophy. It helps find out changes in genes responsible for the condition. Genetic testing confirms the diagnosis as well as the type of MD the patient has. There are other diagnostic options that the doctor may recommend:
- A blood test will be required for high levels of creatine kinase. It is a protein that the body releases when muscle fibers are damaged.
- The doctor may also recommend a muscle biopsy. For that, they will extract a small sample of muscle tissue and analyze it to detect protein deficiencies or structural abnormalities.
- Electromyography (EMG) is done to measure how well your muscles are working and if they are responding to nerve signals.
- MRI, CT scans, ECG, and echocardiograms can be done to evaluate the extent of muscle damage and check for heart involvement.
Treatment Options
The conventional treatments for muscular dystrophy focus on increasing your heart and lungs’ health, mobility, and muscle strength.
These treatment options included physical therapy, occupational therapy, medication, and surgery. Depending on the extent of the patient’s difficulty, treatment plans are made to help manage the trouble with swallowing, breathing, walking, and hand movements and to slow the deterioration of muscle tissues.
Advanced treatments like gene therapy and stem cell therapy can further improve treatment outcomes.
Let’s learn about these treatment and therapy options:
Doctors prescribe medications to help you manage symptoms and slow down muscle degradation and progression of MD. Medications like corticosteroids are mostly used to maintain muscle strength and delay worsening. However, these medications may have side effects like weaker bones and weight gain if used for a long time.
Herat medication becomes important if the condition affects the heart of the person. These medications help support the heart function. Now there are medicines that target specific genetic mutations. But before taking any medication, you need to consult a doctor.
Physical therapy is important in the muscular dystrophy treatment. It helps maintain flexibility, strength, and mobility. A physical therapist will guide a patient with stressing exercises, which is a must in MD. These exercises are beneficial for making the joints like shoulders, hips, and ankles flexible and preventing tightness.
Nevertheless, if joints get stiff, the therapist may recommend stretches or equipment to improve mobility. You can take the help of the therapist to get the right mobility aids and guide recovery in case of an injury. Physical therapists will help you make a physical therapy plan that can make a big difference in your or your dear one’s daily life.
Surgery can help you manage muscular dystrophy-related conditions like scoliosis, joint stiffness, and heart rhythm issues. The type of surgery doctors will recommend depends on your or your dear one’s needs. Let’s learn about these surgeries:
Spinal Fusion Surgery
Spinal fusion surgery is done for scoliosis. It straightens and stabilizes the spine. Doing so helps improve the posture and lung function of the patient. Surgeons use rode and screws to align the bones. These bones gradually fuse with time.
Tendon Release Surgery
In muscular dystrophy, tight muscles and tendons make joints stiff. When that happens doctor may recommend tendon release surgery. It releases the joints to make movement easy and comfortable. If the foot has stiffness, releasing the Achilles tendon can improve foot positioning and walking.
The patient may need to wear a cast to ensure proper healing. After the surgery, they may need physical therapy to regain mobility.
Natural and holistic treatment options focus on improving muscle strength and overall health. They also slow down redegeneration. Let’s check these options:
Ayurveda
Ayurvedic treatment for MD naturally nourishes the muscles and increases mobility. The practitioners use herbal remedies and also recommend diets and lifestyle changes. They will also prescribe yoga to boost mobility and metabolism. A strong metabolism is important for protein synthesis and muscle repair. It emphasizes a proper diet and nutrition for the muscles and to maintain mobility.
Ayurveda also aims to strengthen the body and delay muscle degeneration benefits to individuals with neuro-muscular disabilities. Panchakarma therapies, gentle massages, steam treatments, and practices like yoga and pranayam give significant relief from the symptoms of MD.
Panchakarma and other therapies not only detoxify your entire system but increase muscle strength and give significant relief in neuro-muscular conditions. Breathing exercises and gentle yoga poses like tada sana, and trikonasana relaxes the mind and body of the patient.
Homeopathy
Like Ayurveda, homeopathy uses a natural approach to treat diseases and conditions. It does the same for MD. It aims to slow down muscle degradation and give the patient an independent life.
Homeopathic treatment for MD aims to reduce muscle weakness and increase muscle strength. It also focuses on giving relief from the symptoms of MD. It is personalized as per the patient’s need and the practitioner does a detailed case study to achieve that. They study the patient’s physical, emotional, and genetic makeup.
Homeopathy provides a supportive therapy that helps the patient live a self-reliant life by addressing the root cause of MD. As said before, homeopathy personalizes the treatment plan and the medicines are chosen as per the patient’s needs. It controls the disease progression and offers an independent life.
Conventional treatments focus on managing and lessening the pain and other symptoms that the patient experiences due to muscular dystrophy.
Let’s check these experimental treatments:
Gene Therapy
Gene therapy emphasizes addressing the specific genetic mutation that resulted in that particular type of muscular dystrophy. It does so by introducing, modifying, and repairing genes within the patient’s body cells.
Here are the types of gene therapies used for muscular dystrophy treatment:
- Exon skipping: This technique uses synthetic molecules to bypass faulty sections of dystrophin genes. Dystrophin genes are the largest genes in the human body and they give instructions for producing a protein called dystrophin.
- Gene replacement: In this approach, a healthy copy of the dystrophic gene is provided using a harmless virus like adeno-associated viruses (AAV). these viruses are considered non-pathogenic and safe.
- Gene editing: This is a revolutionary technique because it directly corrects genetic mutation by cutting and repairing the genetic sequence.
Stem cell therapy
Stem cells have the potential to regenerate and repair damaged muscle cells. Stem cell therapy can effectively treat muscular dystrophy by providing cells that can produce muscle protein and replace damaged muscle cells.
Each year MD grows 20% in most cases. Stem cell therapy can not only slow down the progression but also stop it completely and thus prevent further complications.
Stem cell therapy for muscular dystrophy treatment is simple and completely safe. It requires only injections and it is a non-invasive procedure.
In this therapy, adult stem cells are taken from your bone marrow and injected back into you after processing in a specialized stem cell laboratory.
The procedure involves 3 steps:
Step 1: Extraction of Stem Cells
It starts with extracting the stem cells from your blood, fat cells, or umbilical cord. Mesenchymal stem cells are used. It is a painless and minimally invasive process with little or no pain.
It starts with extracting the stem cells from your blood, fat cells, or umbilical cord. Mesenchymal stem cells are used. It is a painless and minimally invasive process with little or no pain.
Step 2: Stem Cell Separation
The bone marrow which is taken in step 1 from the patient is sent to the stem cell laboratory, where the stem cells are separated from the remaining cells of the bone marrow by the density gradient method.
Step 3: Stem Cell Injection
After the procedure is over, your doctor may suggest some follow-up therapies like hyperbaric therapy and ozone therapy to increase the effectiveness and potency of the stem cells.
Combination therapy is a multimodal approach that brings together the best of all treatments and therapies. It combines approaches like Ayurveda, homeopathy, allopathy, regenerative medicine, and therapies like physical therapy and occupational therapy to offer the best treatment outcome.
But bringing together specialists from all these medical fields is a tough nut to crack for many. That’s why MedicoExperts has brought together a team of experts from all these disciplines under one roof.
The team of specialists will study you or your family member’s case. Based on the analysis, we create a personalized treatment plan that may involve 2-3 or even all of the medical sciences. Then you need to undergo the therapies and treatments under the observation of the specialists and experts. We closely monitor progress and make necessary adjustments to ensure the best possible outcomes.
Living with Muscular Dystrophy
It is difficult for anyone who is living with muscular dystrophy or caring for a person who has this condition without proper support and help. So here are some steps that can make your and your loved ones’ lives much easier.
Tools and devices like wheelchairs, and braces can make moving around and doing daily tasks much easier for the patient and their attendants. Talk to your doctor or therapist and get the best tools and devices that help make your or your loved ones’ lives comfortable and effortless.
MD impacts your or your loved ones’ emotional health along with physical health. So managing emotional symptoms along with physical ones is equally important. Joining a support group or talking to a counselor can help you and the person you are caring for. This helps the patient feel less alone and learn how to cope better.
A healthy diet is important to manage energy levels and avoid the extra weight that can damage the muscles further. Take the help of a physical therapist and they will recommend some stretching exercises as per the patient’s need.
At the same time, it is important to understand that though staying active makes a big difference, it’s still important to stay within the physical limits.
Latest Research and Advancements
There are breakthroughs in MD research that are changing the way MD is treated and managed. Gene therapy and stem cell therapy are showing some promising results in the treatment of MD.
Some notable trials are:
- A trial in Rochester, Minnesota, is exploring the safety and appropriate dosing of LX2006 gene therapy for cardiomyopathy associated with Friedreich’s Ataxia.
- Trials like RGX-314 in Rochester, MN, are testing gene therapy for conditions such as neovascular age-related macular degeneration (AMD). These studies are focusing on evaluating improvements in vision and safety over extended periods.
- Gene therapy and radioactive iodine are combined to treat recurrent prostate cancer.
- Another study is testing the safety of XC001 gene therapy for patients with refractory angina due to coronary artery disease. Refractory angina is a chronic condition that occurs when the heart demands more oxygen than it is getting.
Takeaway
Early diagnosis and proactive management increase the effectiveness of treatments and therapies and boost their outcome in muscular dystrophy and other genetic disorders.
Combination therapy amalgamates the best of all therapies and treatment approaches to offer you and your loved ones independence and a fulfilled life. You can move forward toward a happy and healthy life if you are well-informed about these innovative treatment methods and stay proactive throughout the treatment journey.
So, don’t wait any further and call us to learn more about combination therapy for muscular dystrophy.
Frequently Asked Questions (FAQs):
Q1. Can muscular dystrophy be cured?
A. There is no cure for muscular dystrophy currently. However, some treatments and therapies can give significant relief and help manage the symptoms of MD.
Q2. At what age do symptoms of muscular dystrophy appear?
A. The symptoms of muscular dystrophy can appear in childhood. However, some symptoms may show in adulthood.
Q3. What complications can arise from muscular dystrophy?
A. There are related complications of muscular dystrophy like respiratory issues, heart problems, and scoliosis.
Q4. What is the life expectancy for someone with muscular dystrophy?
A. The life expectancy of a person with muscular dystrophy may vary depending on the type of it. In some types, people live into their 30s and 40s. In other types, the people may have a longer lifespan.
- https://pubmed.ncbi.nlm.nih.gov/34224684/
- https://www.mayo.edu/research/clinical-trials/cls-20116735
- https://pubmed.ncbi.nlm.nih.gov/38554726/
- https://www.curefa.org/clinical-studies/gene-therapy-for-cardiomyopathy-associated-with-friedreichs-ataxia-lx2006/
- https://www.parentprojectmd.org/care/care-guidelines/by-area/physical-therapy-and-stretching/
- https://www.nhs.uk/conditions/muscular-dystrophy/treatment/
- https://www.nhs.uk/conditions/muscular-dystrophy/diagnosis/#:~:text=Blood%20tests,-A%20sample%20of&text=The%20muscle%20damage%20caused%20by,need%20for%20a%20muscle%20biopsy
- https://www.webmd.com/children/what-is-muscular-dystrophy
- https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy
- https://www.nhs.uk/conditions/muscular-dystrophy/diagnosis/#:~:text=Blood%20tests,-A%20sample%20of&text=The%20muscle%20damage%20caused%20by,need%20for%20a%20muscle%20biopsy
Next in Muscular Dystrophy
Author Bio:
Dr. Khushbu Jain is a dedicated professional with a passion for advancing healthcare through cutting-edge treatments. She has a special interest in researching regenerative medicine and advanced treatment for diseases that are difficult to treat with conventional treatment options. Her deep understanding of these progressive treatments allows her to offer patients personalized and effective solutions for a variety of health concerns.
Content Medically Reviewed By MedicoExperts Editorial & Clinically Review Board
