Treat your congenital muscular dystrophy with advanced stem cell treatment in India
Put an end to the agony caused by Congenital Muscular Dystrophy!
Congenital Muscular Dystrophy (CMD) is a serious, life-altering condition affecting muscle development, strength, and mobility. It is a group of genetic neuromuscular disorders that can lead to permanent muscle weakness and disability.
Advances in medical science have enabled doctors to develop innovative treatments and therapies that can alleviate the symptoms of CMD.
Therapies like stem cell transplantation, physical therapy, and pharmacological treatment are helping people with CMD achieve a better quality of life.
In this article, we will look at the different types of CMD, their diagnoses and treatments, and explore the latest advancements in managing this condition.
To start off with here is the story of our hero:
Natalie was a bright and energetic little girl living with her parents, Thomas and Harry. She loved to play outdoors and had a passion for dancing. Unfortunately, when Natalie turned eight, her parents started to notice that she wasn’t keeping up with the other children in activities like running and jumping rope.
At first, her parents thought that it was due to her age, but as time passed they noticed that Natalie’s muscle weakness wasn’t improving. After consulting with several doctors, Thomas and Harry were unable to find a diagnosis for their daughter’s condition.
Desperate for answers, Thomas and Harry searched the internet for more information about their daughter’s condition. After much research, they stumbled upon MedicoExperts.
They quickly contacted MedicoExperts and after examining Natalie, the doctors concluded that she had been diagnosed with Congenital Muscular Dystrophy (CMD). The team at MedicoExperts immediately began implementing a plan of action to help Natalie. They prescribed her therapies and other treatments that helped reduce the symptoms of CMD.
With the help of stem cell therapy, physical therapy, and pharmacological treatment, her muscle strength began to improve. Along with this they also monitored her progress regularly, ensuring that Natalie and her parents had 24/7 access to medical care.
Over the course of a few months, Natalie’s condition began to improve significantly. Her muscles became stronger, her mobility increased and her quality of life was enhanced. With the help of MedicoExperts, Thomas, and Harry were able to provide their daughter with the help and care that she needed.
Natalie’s story is a testament to the power of modern medicine. With the help of a MedicoExperts and cutting-edge treatments, Natalie was able to overcome her Congenital Muscular Dystrophy and live a full and healthy life.
How far we’ve come in understanding and treating this condition. Read on to find out more!
What is congenital muscular dystrophy?
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.
What are the Different Types of Congenital Muscular Dystrophy?
Congenital muscular dystrophy (CMD) is a condition where muscles get weakened with some joint loosening or stiffening. Depending on the type of CMD, it involve spinal curvature, and some intellectual disabilities. These conditions occur from genetic mutations impacting proteins that are critical to the structure and function of muscle. Although congenital muscular dystrophies are rare, they can cause significant impairment in mobility, breathing, and quality of life. Here are the common types of congenital muscular dystrophies.
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A)
MDC1A occurs because of mutations in the LAMA2 gene, which is responsible for encoding laminin-α2, a critical muscle-stabilizing protein. As a result, MDC1A often results in extreme muscle weakness, contractures of the joints, breathing problems, and delayed motor milestones. Many children with MDC1A will require ventilatory assistance and mobility assistance.
Collagen VI-Related Congenital Muscular Dystrophy (Ullrich and Bethlem Myopathy)
This family of congenital muscular dystrophy occurs from mutations in the COL6A1, COL6A2, and COL6A3 genes. Two common types are
- Ullrich Congenital Dystrophy, which involves significant muscle weakness, joint hypermobility, and respiratory problems, and
- Bethlem Myopathy is a less severe variant characterized by muscle weakness and contractures that emerge later.
Dystroglycanopathies (Caused by Mutations in FKRP, FKTN, POMT1, and POMT2)
Dystroglycanopathies arise from a change in the DNA of the gene, which increases the risk of developing certain genetic disorders, a protein essential for muscle integrity. The forms of dystroglycanopathy include:
- Fukuyama Congenital Muscular Dystrophy (FCMD) is a condition found primarily in Japan that presents with severe muscle weakness, abnormal brain development, and intellectual disability.
- Muscular eye-brain disease (MEB) presents with muscle weakness, vision loss, and abnormal brain development.
- Walker-Warburg Syndrome (WWS) is the most severe phenotype, resulting in profound weakness, eye problems, and early death.
Rigid Spine Congenital Muscular Dystrophy
RSMD1 is associated with a change in the DNA in the SEPN1 gene. The SEPN1 gene contains selenoproteinSelenoprotein, which helps in forming the muscles and provides an oxidative stress response. The people who are suffering fromwith RSMD1 experience weakness of neck and trunk muscles that typically progresses over time. Affected people develop a rigid spine, respiratory insufficiency, and mobility issues, while limb strength tends to remain somewhat preserved.
LMNA Congenital Muscular Dystrophy
It is associated with variants in the LMNA gene and muscle weakness, contractures (an abnormal shortening of a muscle), and cardiac issues. There can also be severe joint deformities and pulmonary problems that require medical intervention at a relatively young age.
How Common is Congenital Muscular Dystrophy?
Congenital muscular dystrophies (CMDs) are rare. A geneticGenetic mMuscle dDisorder that leads to identifiable weak muscles at birth or in infancy. They are estimated to occur in about 1 in 50,000 live births, although prevalence rates vary by genetics and geography, as well as by the increasing capacity to verify diagnoses.
Congenital Myotonic Dystrophy
This is a rare but quite severe variant of myotonic dystrophy that is inherited from affected mothers. Congenital myotonic dystrophy causes hypotonia, difficulties with breathing, weakness of the face, and delays in development. As with the other types of dystrophy, early management of symptoms is very important.
Importance of Early Diagnosis
The symptoms of genetic muscle disorder, or CMDs, can be mild to severely progressive and sometimes may overlap with other undiagnosed conditions. It may be helpful for you to know CMD types through genetic testing and/or a muscle biopsy. However, there are no curative measures for any CMDs currently available; hence, early detection and interventions, including physical therapy, respiratory care, and/or supportive care, may improve the quality of life.
Different Complications of Congenital Muscular Dystrophy?
Congenital muscular dystrophy (CMD) is a collection of genetic disorders that impact muscle functioning from birth or early infancy. People with CMD will have progressive muscle weakness, mobility issues, and other complications associated with their health. While the severity differs from individual to individual, most will experience several complications that can be detrimental to their quality of life.
Progressive Muscle Weakness and Mobility Complications
One of the most prominent complications associated with early-onset muscular dystrophy is progressive muscle weakness. Progressive weakness creates difficulties in movement, and developmental motor milestones will often be delayed. Muscle contractures (tightened muscles and joints) limit physical movement skills that derail daily living activities. Many individuals will ultimately require devices for mobility, such as braces or wheelchairs.
Respiratory Complications
Since weakened respiratory muscles result in shallow breathing during sleep, respiratory complications are common, and many children are at risk of infections (e.g., pneumonia). Difficulty clearing mucus in the lungs can lead to congestion. Some children require ventilatory support (e.g., BiPAP).
Cardiac Complications
Some children with specific types of CMD have heart issues that can lead to dilated cardiomyopathy (enlargement of the heart muscle), which can develop into heart failure. Monitoring the heart is needed, and intervention can be necessary at this stage.
Challenges in Nutrition and Feeding
Weakness of facial and throat muscles can affect chewing and swallowing, which can lead to malnutrition and aspiration. Gastroesophageal reflux (GERD) is common and could affect some people to the point that they need a feeding tube to get adequate nutrition.
Cognitive and Intellectual Impairments
Some early-onset muscular dystrophy types, such as Walker-Warburg syndrome, have brain abnormalities that can lead to developmental delays, learning disabilities, and seizures. Early intervention, such as speech and occupational therapy, can help.
Bone Abnormalities
Muscle weakness and contractures may contribute to scoliosis (curved spine), dislocated hips, and foot deformities, all of which can affect posture and movement. Orthopedic interventions such as braces and physical therapy can help manage these conditions.
What are the symptoms of congenital muscular dystrophy?
Infants with hypotonia, or low muscle tone, may appear floppy and have difficulty meeting motor milestones like rolling over, sitting up, or walking. This weakness can persist later in life.
CMD, which is characterized by muscle weakness, can cause joint stiffness or looseness.
This condition may lead to:
- Spinal curvature,
- Respiratory insufficiency,
- Intellectual disabilities,
- Learning disabilities,
- Eye defects, or
- Seizures, all this depending on the type of CMD.
How is congenital muscular dystrophy diagnosed?
When diagnosing any type of muscular dystrophy, the doctor typically starts by asking about the patient’s and family’s medical history and conducting a physical exam. By analyzing the weakness pattern, much can be learned from these initial assessments, which can often make the diagnosis without needing complex diagnostic tests.
The doctor needs to determine if the weakness in the patient is due to a muscle problem or a nerve problem that affects the muscles.
A physical examination can typically identify the source of weakness. Nerve conduction studies and electromyography are occasionally conducted as well.
- These tests involve using electricity and extremely small pins to stimulate and evaluate the nerves. Electromyography is typically not very painful, although it can cause discomfort.
- During the initial stage of diagnosis, doctors commonly request a unique type of blood test known as a CK level test. CK refers to creatine kinase, which is an enzyme that exits from injured muscles.
- A doctor may order a muscle biopsy, which involves surgically removing a small sample of muscle from the patient, to determine the disorder that is causing the CK elevation.
- Genetic tests can examine a person’s genes for defects that cause CMD and predict the disease’s potential progression. These tests usually require a blood sample and can also assist families in determining the likelihood of passing on the disease to future generations.
Conventional Treatment for Congenital Muscular Dystrophy
Prior to the introduction of effective treatments for CMD, physical therapy and occupational therapy were the standard of care. These therapies aim to improve body function, reduce pain and discomfort, maintain mobility, and increase independence.
1. Physical Therapy
Physical therapists can help with stretching exercises that treat muscle tightness and promote better posture. They also provide orthotics or braces to support weakened muscles and protect them from injury.
2. Occupational Therapy
Occupational therapists can help the patient learn to do daily activities that are important to their quality of life, such as self-care, communication, and leisure activities. They can also assist with using assistive devices, such as wheelchairs or special equipment like walkers.
3. Medication
Additionally, the doctor may prescribe medications such as muscle relaxants or pain relievers to help reduce muscle spasms and manage chronic pain.
4. Surgery
In some cases, surgical intervention might be needed to repair weakened muscles or correct spinal curvatures.
Healthcare Providers Who Treat Congenital Muscular Dystrophy
If you or a loved one is facing congenital muscular dystrophyCongenital Muscular Dystrophy (CMD), it is important to find healthcare providers specializing in this disability to help manage symptoms and improve quality of life. Following are the most important healthcare providers you can expect to see when seeking care for CMD:
- Neurologist – A neurologist is the doctor to see for diagnosing and treats neuromuscular diseases, monitors disease progression, and develops treatment plans for patients with CMD.
- Pediatrician – A pediatrician helps to manage overall health, coordinate care, and address developmental issues (as applicable for those with CMD).
- Orthopedic Specialist – An orthopedic specialist is trained to manage skeletal deformities, joint contractures, and mobility problems experienced by people with CMD. Orthopedic specialists can utilize braces, physical therapy, or surgery to help manage complications of CMD.
- Physical Therapist – A physical therapist helps patients with CMD to improve muscle strength, flexibility, and movement to prevent muscle deterioration and other complications from weakness.
- Occupational Therapist – An occupational therapist helps patients with CMD be as independent as possible with daily activities (e.g.,ex. bathing, dressing, eating). They work on adaptive equipment that allows for easier performance of daily activities or to improve motor skills.
- Pulmonologist – A pulmonologist works with patients with CMD to address any respiratory issues that arise. Pulmonary therapy, exercises for improved breathing, ventilatory support, and/or monitoring lung function may all be the roles of the pulmonologist.
- Cardiologist – A cardiologist will be involved with the cardiac complications of CMD (ex., cardiomyopathy) by performing regular screenings and potentially prescribing the needed medications to manage risk and complications.
- Genetic Counselor – A genetic counselor works with families to determine the best ways to understand the genetic aspects of CMD, assess risk in other family members, and explain testing options.
- Nutritionist – A nutritionist helps patients with CMD develop a diet to promote healthy muscle function, body weight, and risk of complications.
- Speech Therapist – A speech-language pathologist will help patients with CMD overcome difficulty swallowing and any other speech and language issues related to CMD.
For more information on possible treatment options and support, visit MedicoExperts.
Advanced Stemcell Treatment for Congenital Muscular Dystrophy
Researchers have proven that stem cell therapy can be used to treat a variety of muscle diseases, including Congenital Muscular Dystrophy (CMD). Stem cell therapy has been shown to have the potential to restore strength and improve physical functioning by repairing damaged muscles. It also helps reduce inflammation, which is a major contributor to CMD-related disability.
The stem cells used in CMD therapy are typically taken from the patient’s fat, bone marrow, or umbilical cord. They can also be sourced from donated umbilical cords and placentas. The stem cells are isolated, purified, and activated before they are injected into the affected muscles. This procedure is done under general anesthesia and typically takes two hours to complete.
This treatment stimulates the repair of damaged tissue and enhances the growth of new healthy cells. This process can potentially reverse some of the symptoms of CMD such as weakened muscles, skeletal abnormalities, and even paralysis.
The results of stem cell therapy for CMD vary from person to person, depending on the severity of the condition. In, patients report significant improvements in strength and function after treatment. Patients may experience reduced pain, improved mobility, and increased independence as a result of the therapy. It’s a safe and effective treatment with minimal side effects.
Stem cell therapy may also be combined with other treatments, such as physical and occupational therapy, to maximize its potential benefits. With the help of advanced stem cell treatments, those living with CMD may be able to achieve a better quality of life.
Prevention Techniques for Congenital Muscular Dystrophy
Although congenital muscular dystrophy (CMD) is a hereditary disorder with no known prevention, several steps can be taken to get early detection of the disease and manage its effect. As a result, it potentially reduces the risk of having CMD in future generations. Some important prevention strategies include the following:
- Genetic Counseling – Families with a known history of CMD should seek genetic counseling and testing before conception (womb).
- Genetic testing during pregnancy – Genetic information from advanced genetic testing while a mother is pregnant may facilitate possible identification of genetic causes of CMD if there are possible mutations associated with CMD in the mother during the pregnancy.
- Carrier Screening – Parents may obtain carrier screening for specific genes that are associated with CMD.
- A healthy pregnancy – A mother’s healthy pregnancy with a balanced diet, consideration of pre-natal vitamins, and avoidance of harmful substances during pregnancy will support fetal development.
- A pattern of regular health screenings – Another important consideration for expecting parents is consulting healthcare professionals who will regularly screen the expected parents to facilitate and monitor the unborn fetus as it develops and grows.
- Stem Cell and Gene Therapy– There is ongoing research regarding gene therapy for CMD. This method may not be available now, but one day, it could be available. However, we can still use stem cell therapy to prevent CMD.
- Early Intervention Program – Early intervention is recommended for affected children, and going to physical therapy in conjunction with other supportive interventions to better improve mobility and functional use for overall quality of life for individuals with CMD.
For further information and expert options regarding congenital muscular dystrophy, contact MedicoExperts.
The Prognosis for Congenital Muscular Dystrophy
The key to successful treatment for CMD is early diagnosis and intervention, so it’s important to talk to your doctor as soon as you experience any of the symptoms associated with CMD.
Stem cell treatment can cure congenital muscular dystrophy. This therapy’s regenerative property provides new hope to individuals suffering from this condition by effectively treating and curing their symptoms.
It is important to diagnose congenital muscular dystrophy early in order to manage it properly. It is also important to understand that there is a good chance for improvement in muscle strength and to prevent joint contractures, which can help the child reach their full potential for walking. Greater awareness is needed regarding these factors.
What is the Cost of stem cell therapy for congenital muscular dystrophy in India?
India is an attractive destination for stem cell therapy due to its world-class hospitals, qualified experts, and affordable treatment costs. Patients can trust the quality of care they receive and benefit from affordability. The stem cell therapy for congenital muscular dystrophy treatment in India is tailored to meet individual patient needs and medical conditions.
Additionally, the cost of stem cell therapy in India is considerably lower than that of other countries, making it an attractive option for those seeking affordable and effective medical care.
The starting price for stem cell therapy for congenital muscular dystrophy treatment in India is USD 2000 per cycle, which may vary depending on the patient’s present condition.
Conclusion
Congenital muscular dystrophy is a debilitating condition that can cause physical and mental impairments. A diagnosis of congenital muscular dystrophy can be distressing, particularly due to its potential impact on a person’s life. But with proper treatments and stem cells, occupational and physical therapies can provide hope by reversing some of the symptoms of CMD.
Consult with MedicoExperts for efficient diagnosis and treatment. The team is well-equipped to provide personalized advice and guidance. Contact the team today and benefit from MedicoExpert’s world-class facilities, experienced experts, and affordable stem cell therapy for congenital muscular dystrophy.
Frequently Asked Questions (FAQs):
Q1. Can you live a normal life with Congenital muscular dystrophy?
Ans: Yes, with the right treatment and therapies, many people with CMD can live a normal life. The amount of improvement is different for each individual and depends upon the severity of their condition. Although Stem cell therapy has been found to be an effective treatment for CMD, many patients report improved strength, mobility, and independence after undergoing the treatment.
Q2. Which type of congenital muscular dystrophy is the most frequently occurring?
Ans: When infants experience weakness, possible causes could be congenital myopathies such as central core, nemaline road, and centronuclear myopathy. These are the most common differential diagnoses.
Q3. What are the three most common types of muscular dystrophy?
Ans: Muscular dystrophy is a group of disorders that can cause muscle weakness and are typically hereditary. The three most frequently encountered types are Duchenne and Becker muscular dystrophy, myotonic muscular dystrophy, and facioscapulohumeral muscular dystrophy.
Read more about muscular dystrophy here.
Q4. Does congenital muscular dystrophy worsen over time?
Ans: CMD is a condition that typically starts around the time of birth and progresses differently depending on the type. While some types progress slowly, others can shorten a person’s lifespan.
Q5. What are the 4 types of stem cell therapy?
Ans: The four types of stem cell therapy include embryonic stem cell therapy, fetal stem cell therapy, adult stem cell therapy, and induced pluripotent stem cell therapy.
These therapies are used to treat a variety of conditions, including congenital muscular dystrophy. MedicoExperts can help you with the right therapy as per your individual requirements. Contact the team today to learn more about CMD.
Q6. What is the current status of stem cell therapy for the regulatory framework?
Ans: The stem cell-based therapy is in the research phase and not yet formally approved by ICMR. However, the application of stem cells, popularly known as bone marrow transplants, in blood-related disorders is approved by ICMR.
Next in Types of 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
