Early detection of muscle dystrophy surfaced in the year 1830. It started with a study on young boys and their increasing weakness on the muscles by Sir Charles Bell. Dystrophy is coined from the Greek word dys which denotes ‘to nourish’. It talks about set of less than 30 genetic diseases that can lead to an alarming rate of increasing weakness of skeletal muscles applied through all voluntary movements.All these different ailments differ through the arrival stage, seriousness and prototype of muscles that are affected. All the manifestations of muscular dystrophy worsen as the muscles continually deteriorates and starts to weaken.

Different types and associated symptoms

Altogether there are nine types of muscular dystrophies. This cluster of genetically diverse disorders share clinical and pathological characteristics but differ in the age of onset, rate of progression, distribution of weakness, severity, inheritance pattern and molecular defect. It can be classified as follows:

Duchene2 to 6 yearsgeneral muscle weakness and wasting; affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles
Beckeradolescence to early adulthoodidentical to Duchenne, but less severe; progresses more slowly than Duchenne
Congenitalbirthgeneral muscle weakness and possible joint deformities
Distal40 to 60 yearsweakness and wasting of muscles of the hands, forearms, and lower legs
Emery- dreifussChildhood to early teensweakness and wasting of shoulder, upper arm, and shin muscles
Limb-GirdleLate childhood to middle ageweakness and wasting, affecting shoulder girdle and pelvic girdle first
FacioscapulohumeralChildhood to early adult agefacial muscle weakness and weakness with some wasting of shoulders and upper arms
Myotonic20 to 40 yearsweakness of all muscle groups accompanied by delayed relaxation of muscles after contraction; affects face, feet, hands, and neck first
Oculopharnyngeal40 to 70 yearsaffect muscles of eyelids and throat causing weakening of throat muscles, which, in time, causes inability to swallow and emaciation from lack of food

Causes of Muscular Dystrophy

When a group of disorders present at birth most likely due to a malfunction of a single gene, interferes with muscle veracity, the condition that develops is called muscular dystrophy. It is the result of inaccurate coding by the dystrophin gene that provides the protein code needed for muscle tissue formation.

Muscle weakness is generally caused when the cells that are used to sustain the muscles are no longer capable for their functionality. This furthermore leads to increasing weak points of the muscles and its disorder. Several symptoms of muscular dystrophy take place through the natural progression in the gene formation and these disorders are passed on from one age group to the other. Muscular dystrophy can be classified in these three ways:

  • Autosomal dominant- This inheritance takes place when both parents pass a defective gene and a normal gene respectively to their child.
  • Autosomal recessive- This inheritance means that both parents can transmit and transfer on the defective gene. It means that both the parents must hold one defective gene but remain unaffected by the disorder.

When a mother carries the affected gene on one of her two X chromosomes and passes it to her son, then the X-linked (or sex-linked) recessive inheritance takes place

Treatment for Muscular Dystrophy

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There are advanced conceptions coming up for the treatment of MD. There are newer studies that have highlighted the possible possibility of stem cells to regenerate and repair the damaged muscle cells. Stem cells are those kinds of cells that develop at the early growth levels. This indicates they have the capacity to convert any type of body cells and undergo self regeneration.The capacity of adult muscle to undertake renewal is largely credited to a distinctive subpopulation of muscle cells, named as satellite cells. These cells are believed to be the chief cell type associated with skeletal muscle regeneration. Cell therapy is guaranteed to be the right treatment form for MD to transmit progressive muscle proteins and restore the stem pool.

Objective radiological evidence of improvement in a muscular dystrophy

Our Bone Marrow cell transplantation procedure does not only change the patients’ clinical symptoms, but also aims to restore and bring to a close further progression of muscle wasting that occurs in Muscular dystrophy. This has been demonstrated by the MRI-MSK reports of these patients.

Objective radiological improvements seen in a case of muscular dystrophy after Cell therapy.

About Cell Therapy

The mechanisms by which stem cells may function include:

  • Differentiation and cell fusions
  • Secretion of cytokines
  • Increase oxygen supply and contribute to vascularization in the damaged area.

The entire mechanisms contribute to tissue remodeling, decrease inflammation and prevent cell death. It contributes to the pattern of healthy cells altogether. The Adult stem cells transfers from several tissues consisting of the bone marrow, mesoderm that form the muscle cells. It ultimately restores the stem cell pool that helps in tissue renewal and repair.

Conventional treatment options

One of the most complicated disorders for treating is muscular dystrophy. Till date, there is no cure available for MD though its pathogenesis is well perceived. The conventional treatment options or methods of MD consist of exercise drugs that slow down or put an end to muscle dystrophy like anabolic steroids and supplementation.

Drug Treatment like the use of steroids have been verified to be an effective treatment to slow down the development of MD particularly DMD and in holding up the loss of independent ambulation, protecting the pulmonary functions and to even out the strength of the muscles.

The use of corticosteroids may help to improve myoblast proliferation and promote muscle regeneration. Then again using steroids will slow down the degradation of the muscles by alleviating lysosomal-bound proteases or muscle cell membranes. In the end, prednisone can decrease the damage done to the muscles in the course of its immunosuppressive and anti-inflammatory effects.

The key factor to rehabilitation management is the Rehabilitation Management of muscle extensibility and abnormal joint pain. The patients are guided to be more independent through physical therapy, occupational therapy, speech therapy and other recreational therapies.

Gene Therapy is an advanced form of therapeutic option. Through gene therapy, the patients are introduced to regularize the gene expression and the production of proteins. There are a number of approaches that are regulated for replacing the defective genes. Normally, in several gene therapies, the normal gene is put inside the genome to swap the abnormal gene that causes the disease. This procedure is done through viral vectors, Antisense- Induced Exon Skipping or Read through Stop Codon Strategies.

The NeuroGen outcome

Muscular dystrophy can wears out the emotional, physical and financial condition of the patients as well as their well wishers. Cell therapy has come up as a successful curative option after years of research and study. Presently, we have treated over 1428 patients of muscular dystrophy with 94% patients showing remarkable improvement.

After the successful therapy, our patients have shown a marked improvement such as increased trunk muscle strength, limb strength on manual muscle testing and balance. Additionally they have made improvement in ambulation, hand function, increase in stamina and better trunk balance. All these results in succession for the patients to lead a happier life.

Case Studies – Muscular Dystrophy

I am capable enough to handle it and I will make a difference in the attitude of other kids so that they could create a new dimension of living a powerful life.” Says Abhinav Kumar , 27 year old, diagnosed with Duchenne Muscular Dystrophy since the last 23 years.

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Patient with Limb Girdle Muscular Dystrophy successfully runs a business of Interior Designing and says there’s nothing like positive attitude to fight any challenges that life throws at us.

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Boy with Duchenne Muscular Dystrophy is all set to appear for his standard tenth examinations this year and hopes to pursue a career in software designing

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Frequency of falls reduced after Cell Therapy

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Muscular Dystrophy Patient starts walking with Lesser Support

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40 Years Old Resumes Job after Cell Therapy

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From wheelchair to standing with splints and walker

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Your most common questions answered

Can muscular dystrophy be a contagious disease?

No muscular dystrophy is mainly a hereditary disorder and it is not at all contagious.

Is muscular dystrophy always hereditary?

It is not always hereditary. Many researchers states that about 1/3 of all boys that suffers from Duchene/Beckers muscular dystrophy have no such family history.

It is often mentioned that there are several types of Muscular Dystrophy seen in people. Which is the most common type of muscular dystrophy?

The most common type of muscular dystrophy is Duchene. Beckers is the second most common MD and limb girdle muscular dystrophy is the third most common form.

What is the first sign I will notice if my child has Duchene muscular dystrophy?

The first symptom that you may notice in your child is they tend to start talking and walking late. But many conditions have different signs. Most parents may notice that their child is not running as fast as the other kids. Or the child may also get up from the ground, in a different way, using his hand for support and may have difficulty in climbing stairs.

How is muscular dystrophy transmitted?

Muscular dystrophy can be passed on from either of the parent through an affected gene.
In myotonic dystrophy, the carrier can be either one of the parents.
In limb girdle muscular dystrophy, the transmission could take place through a recessive gene. This means that both the parents are carrier, and they both transmit the disease.

My son had Duchene muscular dystrophy, can my daughter or me be a carrier?

Yes, there are 50% chances of your daughter being the carrier. To ascertain her case, opt for a genetic testing.

Can this disease be detected during pregnancy?

If there is a past record of previous child or sibling having this disease/condition then it is possible in an utero diagnosis of DMD. A Chorionic villus sampling or amniocentesis followed by a DNA testing (MLPA) can probably give some answers.

Can muscular dystrophy be detected at birth?

If there is a family history and a reasonable suspicion, then chances are there. But the symptoms cannot be detected unless the child reaches a certain age.

Will Muscular Dystrophy occur only in children?

No there is no proven records to support that MD occurs only in children. For example facioscapulohumeral, myotonic and limb girdle muscular dystrophy begins later in life .They are slow in development and less severe than the childhood forms.

What are few early signs of adult muscular dystrophy?

Few indications like facioscapulohumeral dystrophy, a weak smile or inability to whistle may indicate a beginning. Similarly, in Limb girdle MD weakness of shoulders and hip is seen and in case of Myotonic MD there is an apparent weakness of feet and hand.

Why are muscles enlarged/big in Muscular dystrophy?

Condition where the muscles get enlarged is known as pseudo hypertrophy. It can be replaced with fatty tissues.

What are the treatment options to help child with muscular dystrophy to prolong his walking?

The treatment option to help a child with MD to prolong his walking is to make a surgical release of tight or contracted muscle and help him on learning how to stand the very next day. The second option would be serial casting. This would help your child suffering from MD prolong his walking.

Is there any other method to help my child stand and walk?

To keep the child ambulatory, regular sessions of physiotherapy and exercises would help. Helping them to stand with the help of push knee splints and high boots is very effective. Surgery becomes the best option when the muscles become very tight and are not stretchable at all.

My child is confined to wheelchair; can surgery help him to regain his walking?

A surgery can help set the joints straight. The best option to opt for when muscles become very tight and are not unstretchable is surgery alone. However, the amount of walking exercise would depend on the muscle strength of the lower limbs.

How does physiotherapy and occupational therapy help muscular dystrophy patients?

These therapies help in preventing contractures, keep muscles strong, help in transfer, improve efficiency of functional activities like standing, walking etc.

Can exercises be harmful?

If exercises are done beyond the patients’ capability, it can lead to decline in their health. The patient should not get tired or fatigued. Ample time or rest has to be given between exercises.

Aquatic therapy is really coming up as a therapy option. Can swimming benefit?

Swimming is a good form of exercise for the child or patient of muscular dystrophy. Children should be advised to take up swimming lessons from a very early age. It helps to increase endurance, increases muscle strength and good work up for the respiratory and cardiac muscles.

What is the cause of death in muscular dystrophy?

The major cause of death is respiratory muscle weakness that leads to respiratory difficulty. As the muscles weaken, the child develops scoliosis or an abnormal, sideways curvature of the spine. The cough reflex gets into a weak position. Patient becomes more prone to chest infection and leads to difficulty in breathing.
Cardiac muscle weakness and cardiomyopathy are other major cause of death in muscular dystrophy patients.

Can stem cell therapy prolong a muscular dystrophy patient’s life?

The aim of stem cell therapy is to make the muscles stronger and slow down the deterioration of the muscles. If the patient is walking, the goal is to keep them walking. This indirectly could delay respiratory muscle weakness and prevent scoliosis. This could then prolong overall life expectancy, by reducing the chances of respiratory complications.

How does stem cell therapy work?

The biological task of stem cells is to repair and regenerate damaged cells. Stem cell therapy exploits this function by administering these cells in high concentrations directly in and around the damaged tissue, where they advance its self healing and repair.

Are there ethical concerns surrounding adult stem cell research and therapy?

No, there are no ethical concerns surrounding adult stem cell research and therapy. Ethical concerns are mostly occurs through the use of embryonic cells. Our therapy consists of using cells which are taken out from the patient’s own body and it is free from ethical concerns.

Is the treatment painful?

No, the treatment is not painful as the therapy is done under local anesthesia and a mild sedation. There is no major pain or discomfort during or after the procedure.

Does the treatment have any side effects?

The whole therapy session is safe and till date none of our patients have shown any signs of neurological deterioration. In rare cases, side effects like headache for 3-4 days, neck or back pain, vomiting, mild rash or pain at the area of bone marrow aspirations may arise. Some unexpected medical complication can occur but that is just a possibility.

How long will it take me to know that I have benefitted from the treatment?

This may vary from patient to patient. Some patients makes a speedy improvement by 3-6 months while in some cases patients take several months or years together to heal. And there are some patients that recover even before their discharge

Is the Bone Marrow Cell transplantation done once or more than once?

This will depend on the condition of the patient. If the patient shows signs of improvement after the first surgery then a second transplantation may be suggested by a team of experts. The second transplantation can transpire anytime between 3-6 months of the first therapy.

Can other treatments be taken at the same time?

We will have to review the entire dose of medication before coming upon a decision. Generally we do allow the patients to continue their other medication. But it is better to consult a doctor beforehand..

How much improvement will the patient have?

Since this is a new therapy and not an existing one, it is difficult to say. It will depend on several factors like the age of patient, type of illness, duration of illness and extent of rehabilitation taken after the treatment.