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facioscapulohumeral muscular dystrophy treatment

Treating Facioscapulohumeral Muscular Dystrophy (FSHD) with Stem cells in India

FSHD can lead to loss of strength and mobility – but there are treatments available.

In this world filled with so many diseases, there is one that stands out – Facioscapulohumeral muscular dystrophy (FSHD). Despite the name, FSHD goes beyond the face and shoulder blades, affecting those who have it on a much deeper level. 

If you or someone you know has FSHD, then you know how important it is to understand this condition and seek support.

We’ll be looking at the causes, symptoms, and treatments of FSHD so you can be better informed on how to manage your condition. Join us as we explore the world of FSHD and provide you with tips and resources to help you take control!

How about we begin by sharing a captivating narrative about one of our Medicoexpert patients who was affected by Facioscapulohumeral muscular dystrophy?

In 2016 we met a family during one of our Medicoexpert patient visits. The family was full of vivacity and laughter until their youngest member stepped into the room. The little girl, who seemed to be only 4 or 5 years old, walked slowly with a slightly stooped posture. She had been diagnosed with Facioscapulohumeral muscular dystrophy (FSHD).

Facioscapulohumeral Muscular Dystrophy treatment in India
Facioscapulohumeral Muscular Dystrophy treatment

As we spoke to the family, they shared how their lives had changed drastically since the diagnosis. They discussed how difficult it was to find information about FSHD and how challenging it was to accept that this condition would affect their daughter’s life from such a young age. Despite the difficulty, they were determined to learn as much as possible about her condition and make sure she the best possible care.

It was clear that this faced an uphill battle, but courage and spirit were inspiring. After consulting with Medicoexpert, the family was able to find helpful resources and gain a better understanding of FSHD. Our team is proud to have been part of this family’s journey and we continue to hope for a bright future for them.

The doctors and team of experts at Medicoexperts advised treatment options that helped this family and countless others living with FSHD. With the right treatments, he was not only able to improve his symptoms but also maintain his quality of life. With their support and guidance, the family was able to take back control of this condition and regain hope again.

It is people like our patients who inspire us every day and remind us why we do what we do. They push us to find better treatments, raise awareness, and provide valuable resources to those affected by FSHD. Join us as we continue to explore the world of FSHD and bring you stories of courage, hope, and perseverance!

We will now explore the details of this condition and discuss ways to manage it.
Keep reading for a more detailed overview of Facioscapulohumeral muscular dystrophy.

Experience Significant Improvements with Stem Cell Therapy

Explore the Potential of Advanced Stem Cell Therapy for Facioscapulohumeral Muscular Dystrophy Treatment in India

What is Facioscapulohumeral Muscular Dystrophy?

The condition gets its long name from facies, scapula, and humerus – which are Latin words for face, shoulder blade, and upper arm.

A hereditary disorder called facioscapulohumeral muscular dystrophy (FSHD) causes muscle weakening in the upper arms, shoulder blades, and face. 

The symptoms tend to manifest between the ages of 10 and 30 years and become more severe with time. Worldwide, it ranks as the third most common muscular disorder that is passed down through families.

Learn more about Muscular Dystrophy here…

What is Facioscapulohumeral Muscular Dystrophy
What are the causes of Facioscapulohumeral Muscular Dystrophy

What are the causes of Facioscapulohumeral Muscular Dystrophy?

FSHD can be passed down from either the mother or the father, or it may develop without any family history.

FSHD is a progressive disease that causes muscle weakness and atrophy (loss of bulk) over time. While primarily affecting the face, shoulders, and upper arms, the disease can also impact other muscles in the body.

It is caused by a mutation in one of four genes known as DUX4. This gene mutation leads to an abnormal buildup of proteins in muscle tissue. This double homeobox protein 4 gene malfunction can lead to muscle weakness and deterioration over time.

What are the symptoms of Facioscapulohumeral Muscular Dystrophy?

Did you know that 90% of patients with FSHD experience symptoms before the age of 20?

Symptoms can vary from mild weakness to extreme difficulty using specific muscle groups. Common signs include:

  • Muscle weakness and atrophy in various areas of the body, such as around the eyes and mouth, shoulders, abdominal muscles, upper arms, and lower legs,
  • Drooping eyelids or facial weakness,
  • Trouble lifting arms above shoulders.
  • Muscle stiffness or tightness. 

While experts classify FSHD into adult-onset and infantile-onset forms, it’s the adult-onset type that is more commonly seen. 

Facial weakness may begin during childhood in both kinds of FSHD, followed by the emergence of other symptoms at a later time. 

If you develop the infantile-onset type, you may experience more pronounced muscle weakness, and you may also experience hearing and vision problems.

Symptoms of Facioscapulohumeral Muscular Dystrophy
Diagnosis of Facioscapulohumeral Muscular Dystrophy

How is Facioscapulohumeral muscular dystrophy diagnosed?

Here are some key takeaways on FSHD and DNA testing: 

– A blood test can detect the DNA mutation that causes FSHD.

– FSHD is caused by a protein called DUX4 being produced in the muscle where it shouldn’t be.

– DUX4 ‘switches on’ genes that aren’t usually active in the muscle cell, which can be toxic and cause muscle death.

– FSHD has more complex genetics than other muscle-wasting conditions.

Living with FSHD can be challenging and overwhelming, but it is important to remember that there are treatments and support systems available.

Advanced Stemcell treatment for Facioscapulohumeral muscular dystrophy in India

Stem cells are capable of self-renewal and can differentiate into specialized cell types, which is believed to be beneficial for FSHD.

The use of stem cells is an encouraging approach in the treatment of muscular dystrophies. Stem cells are characterized by their ability to renew themselves over an extended period of time and their capability to develop into various types of cells.

Stem cell therapy for Facioscapulohumeral Muscular Dystrophy in India

Take a Step Towards Facioscapulohumeral Muscular Dystrophy Treatment with Stem Cell Therapy

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What conventional treatment options are available for FSHD treatment in India?

To treat FSHD, the goal is to decrease the production of DUX4 or the harmful protein it creates. thereafter help to manage and improve the symptoms.

Physical therapy can help strengthen existing muscles and improve mobility.

Additionally, other treatments such as botulinum toxin injections may also be used to manage symptoms of muscle weakness or spasticity.

Occupational therapy can help you learn to cope with daily activities and gain independence. It focuses on developing ways to do everyday tasks in the most efficient and effective way.

There are also assistive devices that can be helpful in managing FSHD, such as wheelchairs walkers, and wheelchairs.

If you have a family history of FSHD, it may be beneficial to seek out genetic counseling. Genetic counselors can provide guidance and support in understanding your risk of developing FSHD and passing it on to your children.

Genetic therapies have been developed for FSHD. These therapies are aimed at targeting DUX4 at the DNA, RNA, and protein levels. Additionally, some therapies focus on modifying the disease phenotype by inhibiting the harmful effects of DUX4.

Maintaining muscle function can be extended by regular exercise and hydrotherapy. Additionally, reducing stress on already weakened muscles can be achieved by eating a healthy, balanced diet and maintaining a healthy weight.

Devices called orthoses can be used to support the feet and alleviate symptoms like foot drop and shoulder weakness in FSHD.

Good nutrition is essential for managing FSHD. Your doctor may recommend a diet to help maintain muscle strength and promote overall health.

Scapular fixation is a surgical option to help those with FSHD regain some use of their arms when shoulder blade muscles become weak.

For those experiencing dry and inflamed eyes that won’t close at night, surgery to bring eyelids closer may be recommended if artificial tears are ineffective.

Additionally, there are a number of supportive resources for those living with FSHD, including support groups, online forums, and local advocacy organizations.

Pain is a common challenge faced by those with FSHD. Managing it can be tough, but with the right approach, you can ease your discomfort. Learn how to successfully manage your pain and enhance your quality of life with effective painkillers tailored to your needs.

Living with FSHD can be emotionally and physically challenging, so it is important to have a support system in place. A psychosocial counselor or therapist can help you to manage and cope with the changes that accompany FSHD.

At MedicoExperts we believe that knowledge is power when it comes to managing any medical condition – especially rare conditions like Facioscapulohumeral muscular dystrophy. Remember to always keep your doctor informed and ask questions if needed, so you can have the best care possible.

Learn here about Advanced Muscular Dystrophy Treatment Options.

What are the expected outcomes for Facioscapulohumeral muscular dystrophy in India?

The outlook for those with FSHD in India varies depending on the age of onset, the severity of symptoms, and other factors. Generally speaking, FSHD tends to have a milder form and an excellent long-term outlook. 

However, symptoms can become more debilitating over time. It is important to receive regular medical care and follow any treatment plan prescribed by your doctor.

For some people, FSHD may cause a gradual decline in muscle strength. In these cases, regular physical and occupational therapy can help maintain muscle strength, as well as improve mobility and coordination. Additionally, lifestyle modifications such as avoiding smoking and maintaining a healthy weight can help slow the progression of the disease.

In severe cases, surgery may be an option to help limit weakness and maintain flexibility in afflicted muscles. The Muscular Dystrophy Association India (MDAI) provides helpful resources and support for those living with FSHD.

In summary, various treatments and resources are available to help manage symptoms and improve quality of life. With the right care, those living with FSHD in India can have good long-term outcomes.

Expected outcome for Facioscapulohumeral Muscular Dystrophy treatment in India

Conclusion

The identification of DUX4 as the genetic culprit behind FSHD has significantly expedited endeavors to comprehend and alleviate the disorder. Genetic therapy shows promising results by using DUX4 as a focal point. 

Advanced treatments like stem cell, physical, occupational, and genetic therapy, have also enabled individuals with FSHD to maintain their quality of life longer. 

The knowledge that we now have about the disorder has opened up new avenues of exploration and potential solutions. With continued research and further developments in treatment, those living with FSHD in India can find hope for a brighter future.

At MedicoExperts, we strive to help people living with rare conditions by providing reliable and up-to-date information on treatment options and resources available. We hope this article has given you insight into the treatments for FSHD in India and helped you understand how to best manage your condition.

Please feel free to contact us, our team of experts is available to provide assistance.

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Frequently Asked Questions and patient concerns:

Q1. What is the average lifespan for individuals with facioscapulohumeral muscular dystrophy?

Ans: Although FSHD typically has little impact on the heart and respiratory system, the progression of the disease is slow. While the severity of FSHD can differ greatly between individuals, most people with the condition can expect to live a normal lifespan.

 

Q2. What is the inheritance pattern of facioscapulohumeral muscular dystrophy (FSHD)?

Ans: FSHD is usually inherited from a parent, with 70%-90% of individuals inheriting the disease-causing deletion this way. Around 10%-30% of affected individuals have FSHD due to a new deletion. If one parent has FSHD, their children have a 50% chance of inheriting the deletion.

Q3. What is the definition of autosomal dominant facioscapulohumeral muscular dystrophy?

Ans: Autosomal dominant genetic conditions like FSHD1 only require one copy of an abnormal gene to cause the disease. This gene can be inherited from either parent or can be a new mutation in the affected person.

Q4. What distinguishes FSHD1 from FSHD2?

Ans: FSHD2 has the same clinical features as FSHD1, but it has a different genetic basis. FSHD1 is characterized by a deletion of the D4Z4 tandem repeats on chromosome 4, while FSHD2 has a normal number of D4Z4 repeats. In other words, there is no “contraction” of D4Z4 at 4q35 in FSHD2.

Q5. Which hospital is the most suitable for treating Facioscapulohumeral muscular dystrophy?

Ans: MedicoExperts boasts a global network of skilled super specialist doctors and advanced hospitals. Choose to receive a second opinion through online video consultation or undergo surgical interventions with our expertly chosen team of paneled doctors at our network hospitals spanning 17 countries from 3 different continents. Gain the medical guidance you require, wherever you may be in the world.

Q6. What is the current status of stem cell therapy from 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.

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MedicoExperts is a Global virtual hospital which is established to offer quality healthcare services at affordable pricing without compromising the success rates of the treatment.
MedicoExperts is having a network of highly experienced super specialist doctors and well equipped hospitals across the globe and offering second opinion through online video consultation and surgical interventions through its empanelled super specialist doctors at its network hospitals in 17 countries from 3 continents.
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