Muscular Dystrophy Treatment: Symptoms, Causes & New Hope

Muscle dystrophy is a rarer disorder- a progressive condition that robs muscles of strength and independence. 

Muscle dystrophy comprises a group of more than 30 genetic conditions that lead to muscle weakness and loss of muscle mass over time. The symptoms of muscle dystrophy progressively worsen. It affects an individual’s ability to walk or perform daily life activities. The current treatment regime for muscle dystrophy focuses on its symptoms management.

This reflects the immediate need to explore regenerative approaches that can find curative solutions.  

Understanding Muscular Dystrophy

Muscle dystrophy (MD) can affect an individual’s ability to walk, move, or perform daily life activities in a distinct manner. Some form of Muscular Dystrophy might occur since a child’s birth or develop with age progression. Some of the standard types include: 

• Duchenne MD (DMD): the most common form of MD, majorly affects boys. It affects the heart and lungs.
• Becker MD (BMD): majorly affects boys between 5 and 60 years, typically affecting during the teenage years. The severity varies between individuals.
• Myotonic Dystrophy: affects both males and females and is diagnosed in adulthood. Majorly affected organs include heart, lungs, endocrine system, thyroid and diabetes.
• Congenital MD (CMD): a group of MDs that have become apparent since birth and are characterized by muscle stiffness, weakness and looseness. 
• Distal MD (DMD): occurs among adults between 40s and 60s, mainly affects feet, hands, lower arms and lower legs.
• Other Subtypes: Emery-Dreifuss MD (EDMD), Facioscapulohumeral MD (FSMD), Limb-girdle MD (LGMD), and Oculopharyngeal MD (OPMD). 

What Are The Common Symptoms?

MD is a relatively rare disease. It affects 16-25 individuals among 100,000 in the US. Muscular dystrophy symptoms include:

• Muscle atrophy
• Irregular walking gait
• Difficulty walking, running or climbing stairs
• Muscle stiffness or looseness
• Spasticity
• Muscle pain 
• Contractures (permanent tightening of tendons or muscles)
• Some other associated symptoms include fatigue, dysphagia, arrhythmia, cardiomyopathy, scoliosis, intellectual disabilities or learning disorders. 

What Causes Muscular Dystrophy (MD)?

Muscular Dystrophy causes a mutation in genes responsible for maintaining healthy muscle structure. Many genes are affected; in the majority of cases, the mutation is adapted from one of the patients. The standard way to inherit MD includes:

• Recessive Inheritance- An inherited form of genetic mutation from both biological parents. E.g. limb-girdle MD
• Dominant Inheritance- Inheritance from either of the biological parents. E.g., myotonic, OPMD
• Sex-linked Inheritance- Genetic mutation in the X chromosome. In male the presence of the affected X chromosome shows disease severity. In females, the symptoms might be less severe as one X chromosome affected might be in a recessive form. E.g., DMD, BMD

Muscular Dystrophy Symptoms in Adults

In adults, Muscular Dystrophy Symptoms might vary from those of children, which include:

• Late-Onset Muscle Weakness: Gradual weakness in proximal muscles like the hips, thighs, and shoulders,
• Slower but Progressive Development: Slower progression resulting in functional decline over the years  
• Challenge in Mobility and Balance: Difficulty in activities like climbing stairs, rising from a seated position, frequent falls, and reduced endurance Muscle pain, stiffness, and fatigue progression 
• Impact on Daily Activities and Independence: Progressive muscle weakness adversely affects work performance, self-care, etc., affecting overall quality of life
• Secondary Complications: Some secondary complications arise, including joint contractures, respiratory muscle weakness, or cardiac problems. 

Muscular dystrophy symptoms in adults vary from children in terms of their onset and progression intensity. 

How is MD Diagnosed? 

Standard diagnostic tests for detecting MD include:

• Creatine kinase blood test (elevated in case of MD)
• Genetic tests (identify gene mutation)
• Muscle Biopsy (microscopic identification)
• Electromyography (tests electrical activities in muscles and nerves)

Major Treatment for MD

Muscular Dystrophy treatment aims to manage MD symptoms and improve patients’ quality of life. Standard treatment regimen includes:

• Medications: Corticosteroids (prednisolone, deflazacort)
• Physical and Occupational Therapies: Strengthen muscles and maintain muscle movement
• Mobility Aids: Supportive devices like braces, canes, wheelchairs or walkers for fall prevention
• Surgery: Relieve tension in contracted muscles and scoliosis (correct spine curvature)
• Other Therapies: Cardiovascular care, speech therapy, and respiratory care, depending on the complication onset. 

However, these treatments do not address the root cause of the problem. Stem cell therapy is a curative hope in the future for MD patients. 

Stem Cells for Muscular Dystrophy

Rationale

Stem cell therapies in MD aim to regenerate damaged muscle cells/tissues. It can potentially restore muscle functions by introducing healthy cells. Stem cells possess the ability of self-renewal. They differentiate into specialized cells. 

Mesenchymal stem cells (MSCs)  differentiate into distinct cell types such as muscle, cartilage and fat cells. Current research focuses on introducing MSCs for MD treatment. Once the function of the muscle is completely wasted, it is challenging to regrow. The focus is introduction of stem cells in weekend muscle that aid in making them stronger.

Current Advancement

Stem Cells for Duchenne muscular dystrophy are widely explored. The target is to fix the problem with the dystrophin protein. Gene therapy was introduced in the case of DMD repair problems with the genetic code. However, they don’t replace damaged muscle tissue or fix degeneration. Stem cell therapy for DMD aims to introduce regeneration of wasted muscle cells.

Preclinical and Early Clinical Findings

A preclinical study is done in mouse models. One study transformed human skin cells into muscle cells and introduced them into mice. The mouse’s body accepted new muscle cells and produced healthy dystrophin protein.

In July 2024, the FDA approved human clinical trials by introducing new skeletal muscle cells. The trial is yet to start to determine its safety. 

Regenerative Therapy: A New Hope in Treating MD 

• Targeting the root cause of the problem for muscle degeneration
• Stem cell-based  Muscular Dystrophy Treatment uses MSCs to support muscle fiber repair, improve muscle strength, and reduce inflammation.
• A combinational treatment approach, combining gene therapy with stem cell therapy. Enhances muscle function and dystrophin production
• Slow disease progression promotes tissue repair, reduces fibrosis, and improves the quality of life patient

Challenges & Safety Considerations

The current research did not show any significant safety issues. However, some possible challenges associated with stem cell treatment include:

• Immune rejection
• Bacterial infection
• Abnormal growth or tumour formation
• Allergic reaction at the site of injection
• Veno-occlusive disease (VOD)

*NOTE: It is essential to consider long-term clinical trials to determine long-term safety for stem cell therapy. 

Advancells, Noida, is among the leading laboratories in India that conducts cutting-edge research in stem cell therapy on rare diseases like MD.

Muscular Dystrophy Patient Success Stories

Conclusion and Future Directions

• Stem cells for muscular dystrophy treatment is potential curative approach.
• Expansion of clinical trials and the research pipeline is desirable. Gene therapy, stem cell therapy and exon skipping are reshaping muscular dystrophy treatment.
• Advances in genetic profiling are enabling tailored treatment specific to the MD subtype.
• In the future, continued research and early intervention remain crucial.

FAQ’s

Q- Can stem cell therapy cure muscle dystrophy?

Currently, the answer is inconclusive. Currently, the preclinical research shows promising potential of stem cells in addressing the root cause of the problem. 

Q- How long stem cell injection lasts in the case of a muscle dystrophy patient?

The answer is uncertain. In the mouse model, the study showed the stem cells’ ability to become muscle cells. As clinical trials progresses more information and long-term safety will be known.

Q- Where can stem cells for therapy be found?

It is best to contact renowned clinics and experienced health care professionals. We recommend that you contact your healthcare provider for learning more about the stem cell clinical trials and therapy details. 

Q- How expensive is stem cell therapy?

The cost of stem cell therapy depends on the treatment type, type of cells, duration of the treatment, disease complexity, and the patient’s specific needs. Currently, stem cell therapy is not approved by the FDA. In the case of clinical trial participation, the cost can be covered by a specific insurance plan.