What is Muscular Dystrophy? |Cause of Muscular Dystrophy? |What are the symptoms of Muscular Dystrophy? | Types of Muscular Dystrophy |What are the tests to Diagnose Muscular Dystrophy in India? | Muscular Dystrophy Treatment Options in India | Current Research |
The intent of this blog is to educate people around muscular dystrophy and discuss all the available treatments of muscular dystrophy in India 2020.
It is estimated that muscular dystrophy occurs 1 in every 3500 live male births which are more than 1,50,000 people in India (This number is just an estimation),
The onset of this disease is most commonly found between 3-5 years of age, The prevalence of this disease is more in males than females.
Before we go further I would like to make it clear that currently (August 2020) there is no cure for muscular dystrophy
All available treatments are intended to help you manage the disease better and treat the symptoms associated with it,
Yet every now and then you may come across an ad claiming to cure this illness, While the treatment mentioned in the Ad may be a potential treatment but as of now there is no cure for the disease.
Many parents and relatives go for complementary and alternative medicine for muscular dystrophy and 10% of these treatments are found to be harmful to the patient.
Even if you are considering a complementary and alternative medicine please do consult your doctor about the procedure to always stay safe
All we want is our friends and family to stay healthy and happy but sometimes our desperation can cause more harm then benefit
What is Muscular Dystrophy?
Muscular Dystrophy (MD) as the name suggests means poorly nourished muscles because of degeneration,
Mucular + Dys (Bad) + Troph (Nourishment)
MD represents a group of hereditary diseases that cause your muscles to weaken or get damaged over time
Muscular Dystrophy is different from other diseases that cause muscle weakness like neuropathies,
MD causes damage or weakness in the muscle itself and not in the nerves or the neuromuscular junction (As in the cases of neuropathies)
MD is caused due to genetic mutations and can not be caused due to traumatic injuries, infections, and metabolic problems.
Let’s dig deep and learn more about MD to understand it better.
Cause of Muscular Dystrophy?
The most common cause of Muscular Dystrophies (called Dystrophinopathies) is caused due to genetic mutation in the Dystrophin Gene
Other types of muscular dystrophies are caused due to mutation in genes that code for proteins which work together with the dystrophin protein produced by the Dystrophin Gene
The dystrophin gene is a huge gene found on the X-Chromosome, The gene has about 2 million base pairs and 79 exons
An average gene in our body has around 50,000 base pairs and 10 exons, so you may understand how significantly big is this particular gene
The huge size of the gene makes it more vulnerable to mutations during the production of eggs and sperms in our body
Why is muscular dystrophy more common in boys?
Boys have a single X chromosome while girls have 2 X chromosome
Since boys only have one x chromosome this means that they have a single copy of the dystrophin gene, So if this gene gets damaged the results are unavoidable
Whereas in girls even if one copy of the dystrophin gene is defective the other copy might be functional
The muscular dystrophy (mostly) is an x-linked recessive disease., But even in females only one of the X-Chromosome gets expressed (This process is called Lyonization)
If the inactivation is random you can assume that half of the female cells will have the defective genes while the other half will have a functional one
In such cases, the person is usually asymptomatic, But if more of the defective genes get selected the person may show few symptoms.
What are the symptoms of Muscular Dystrophy?
Muscular dystrophy cause muscle degeneration, Symptoms listed below do not apply to every patient with MD as there are several types of MD about which we will study further.
- muscle weakness
- frequent muscle cramps
- trouble walking
- loss of reflexes
- difficulty standing up
- poor posture
- bone thinning
- abnormal curvature of the spine
- mild intellectual impairment
- breathing difficulties
- swallowing problems
- lung and heart weakness
- walking on your toes
- frequent falls
- poor motor control
- foot deformities
- vision problems, In some cases cataract
- Sleeping with eyes open
- speech problems
- difficulty lifting your neck due to weak neck muscles
- early baldness in the front area of your scalp
- increased sweating
- slanted shoulders
- a wing-like appearance of the shoulder blades
- shortening of the muscles in your spine, neck, ankles, knees, and elbows
Types of Muscular Dystrophy?
The three most common types of muscular dystrophy are Duchenne, Becker, and Myotonic.
The major types of muscular dystrophies are
- Duchenne muscular dystrophy: This is the most common type of MD and occurs only in boys, The onset of the disease begins before 3 years of age
Children suffering from Duchenne MD generally are bound to a wheelchair by their 12th birthday.
The arms, legs, and spine of the individual are deformed and some even experience intelligence impairment.
Life of these people is short and they die due to respiratory failures in their early-mid 20’s.
- Becker muscular dystrophy: This is a milder form of Duchenne muscular dystrophy and occurs only in boys, The onset of the disease can occur between 3-15 years of age (In some cases 25 years)
The people with Becker MD have heart problems and the live past 30 years of age, Generally, death occurs in the mid-40s.
- Myotonic muscular dystrophy: It is the most common type of MD found in adults, It can occur to both male and females
The people with Mycotonic MD are unable to relax their muscles after contraction (prolonged spasm or stiffening of muscles after use)
The condition gets worse in the winters, Symptoms of this MD also include eye problems like cataracts and arrhythmia
Most people do not face problems in daily life for years but their life expectancy decreases.
- Congenital muscular dystrophy: Its onset can occur before 2 years of age and it can occur in both males and females.
The MD is associated with shortening of muscles that cause severe joint pains
In some cases, abnormalities in the brain and seizures are experienced.
- Facioscapulohumeral (FSHD) muscular dystrophy: The onset of the disease is usually found in the teenage in both boys and girls
The people with FSHD MD have deformities in muscles that move our face, upper arms, and shoulders. When they raise their arms their shoulder muscles stick out like wings
People with this MD face difficulty in closing their eyes and often sleep with their eyes open.
- Limb-girdle muscular dystrophy: Occurs in both boys and girls, This type of MD affects the hip muscles and moves further towards shoulder and legs.
They face difficulty in raising their foot and It can become almost impossible for people with Limb-girdle MD to walk
They live to middle age to late adulthood.
- Oculopharyngeal muscular dystrophy: the disease occurs in the 40s-60s in both males and females
People with oculopharyngeal MD face difficulties in swallowing and face choke easily, The disease also weakens the facial muscles and eyes.
Pain in the pelvis and shoulder region is experienced in the later stages.
What are the tests to Diagnose Muscular Dystrophy in India?
- Enzyme Test: when your muscles get damaged due to any reason they produce an enzyme called “Creatine Kinase (CK)”
So an enzyme test can be done to check for elevated levels of CK in our muscles.
- Electromyography Test: Needle is placed in your muscles to detect its electrical activity using an electrode
These reading can be indicative of muscle disorders like muscular dystrophy and amyotrophic lateral sclerosis (ALS)
- Genetic testing: genetic screening for muscular dystrophy can be done prior to birth
The test analyzes the DNA for any mutation on the dystrophin gene.
We talked about this in our previous articles that couples going for IVF should always screen the embryos for genetic disorders
- Heart and Lung Monitoring: Most common MD’s are associated with heart and lung disorders.
Echocardiograms and electrocardiography can detect changes in the heart musculature, This type of tests are really important in cases of myotonic muscular dystrophy
- Muscle Biopsy: A small sample of muscle viewed under the microscope can show signs of MD
Muscular Dystrophy Treatment Options in India 2020
Like we told you at the start of the article there is no cure for muscular dystrophy but an early diagnosis can help patients get the services and treatments required to manage the symptoms.
There are many people claiming to have a cure for muscular dystrophy but we at HealthifyFeed do not acknowledge any of these treatments effective.
There is a difference between cure and treatment,
While there can be potential treatments but currently there is no cure for muscular dystrophy.
Following muscular dystrophy treatments in India are available in 2020
#1 Drug Therapy for muscular dystrophy in India
Certain drugs can help in managing the symptoms of muscular dystrophy like
- Glucocorticoids: such as prednisone and deflazacort are given to patients, They increase the muscle strength and delay the development of certain muscular dystrophy
Long term use of glucocorticoids can result in weight gain, bone weakening, cataracts, and high blood pressure
The drug is available for 2-3 Rs per tablet
- Exondys 51: it can treat certain types of Duchenne muscular dystrophy and be conditionally approved by US FDA in 2016.
MD caused by gene deletions that are amenable to exon 51 skipping. It can be used to treat 14% of Duchenne muscular dystrophy.
It costs Rs2-3 crore annually with one injection to be given for 52 weeks.
- Anticonvulsants: These drugs are given for treating seizures and muscle spasms for patients having these problems in muscular dystrophy
They cost depending on the dosage form 30-80 Rs per tablet
- Immunosuppressants: These are commonly given to patients with autoimmune disorders like lupus, They may help in delay some damage to dying muscle cells
- Vyondys 53: golodirsen under the brand name vyondys 53 was approved for the treatment of certain Duchenne muscular dystrophy in 2019 by the US FDA
- Antibiotics: can be given to some patients of MD to treat a respiratory infection
- Heart Medications: drugs like angiotensin-converting enzyme (ACE) are given to patients of MD if the disease damages the heart
#2 Physical Therapy for muscular dystrophy in India
Physical therapy is provided for children who have gross motor difficulties, children with muscular dystrophy can aid from this therapy. The therapy has to be tailored to every child
Physical therapy can be incorporated into sports and to activities and a lot of it can also be done in the home after training the parents.
you can combine physical therapy with massage and movement and it gradually but consistently does make a difference
#3 Occupational Therapy for muscular dystrophy in India
The therapy is too specific to the age of the person, Children and adults can greatly benefit from occupational therapy
Your occupational therapist helps you with coping with daily activities such as feeding, dressing, writing, and workplace tasks, as your physical abilities get affected by the symptoms of muscular dystrophy.
#4 Speech Therapy for muscular dystrophy in India
Many people with muscular dystrophy have. a major problem with verbal and nonverbal communications and find it hard to interact socially
All these problems are treated with speech therapy, Speech therapists have a unique way of working with every patient.
They will find a suitable way of teaching a person with ASD to communicate well, like using picture boards with words, electronic talkers, typing, etc.
#5 Corrective Surgery for muscular dystrophy in India
All types of MD come with various physical deformities, depending on the condition patients may require corrective surgeries like
- Corrective Surgery for scoliosis
- You may require a pacemaker for poor heart conditions
- Corrective surgery for cataract
- Corrective surgery for muscle shortening
#6 Respiratory Therapy for muscular dystrophy in India
Muscular dystrophy is many times associated with breathing and respiratory problems,
Sleep apneas devices are used to help improve oxygen delivery during the night, ventilators are used for patients with chronic breathing illness
#7 Stem cell therapy for muscular dystrophy in India
Stem cell therapy in recent years have shown some promising results in the treatment of muscular dystrophy,
Stem cells are the founding cells of our bodies, These cells have the capability to differentiate into almost all kinds of cells in your body
These stem cells in your body are injected in the infected muscle area, These cells inturns repair damaged muscles cells and develop new ones
Treatment of MD using stem cells is still a new treatment and not everyone approves of the effectivity of this treatment.
Stem cell therapy is really costly (2.5-5 Lakh Rupees) and it may or may not work for you so make sure to discuss in detail the treatment procedure and results in the center has achieved.
You can read in detail about stem cells at
#8 Ayurvedic treatment for muscular dystrophy in India
You will find many ads and clinics claiming to cure and treat muscular dystrophy using Ayurveda, They might be a potential treatment but make no mistake they can never cure the disease
Any information regarding Ayurveda in India should be referred from the Ministry of AYUSH, The government body that looks into Ayurveda, Yoga and Naturopathy, Unani, Siddha and Homeopathy in India
AYUSH has set up the Ayush Muscular Dystrophy Society India (AMDS India) which offers certain treatments that help in managing the disease
treatments for (i) Reducing weight, (ii) Improving muscle tone and functional ability in patients using specific Panchkarma procedures, specially developed Rasayana supplement, and yogic support
Make sure you refer to AYUSH for any treatment related to treatment in this field.
Currently, the following research is being done for the treatment of muscular dystrophy
- Gene Replacement Therapy
Probably the most promising potential treatment for muscular dystrophy is gene therapy
If the mutated dystrophin gene can be replaced by a healthy gene we can very well cure this disease.
There are some challenges which we need to cover before implementing these therapies like an immune rejection of the replaced gene by the body
You can read about gene therapy in detail at
- Drug-based therapy to delay muscle wasting by promoting muscle growth or mitigating damage due to inflammation (Source)
“Corticosteroids are known to extend the ability of people with Duchenne MD to walk by up to 2 years,
but steroids have substantial side effects and their mechanism of action is unknown. Since several corticosteroid protocols are used,
An NINDS-funded study is evaluating drugs and their efficacy and tolerability at different doses in order to determine optimal clinical practice for their use in Duchenne MD.
In addition, a biotechnology company supported by the NIH’s National Center for Advancing Translational Sciences is developing a modified steroid to increase its efficacy in Duchenne while reducing the side effects that often limit individuals from using corticosteroid therapy.”
- Myoblast transplantation
Myoblast are also called satellite cells they repair and replace the faulty muscle cells during the early stage of MD
But as myoblasts exhaust muscle cells convert into connective tissue
Some studies are showing that modified myoblast cells can replace the exhausted myoblast cells in the body and hence repair the damaged cells
Diseases like Autism, MD, ALS are rare diseases that do not have any cure, Yet we see regularly ads in India claiming to cure the disease, Not treat but cure,
We believe that this is extremely irresponsible of online platforms and medical professionals to market medical treatment by giving false hopes
We are not against Ayurveda or homeopathy, We are against any medical professional claiming to have a cure for a disease the whole world is struggling with
It’s playing with the emotions of parents and patients dealing with these medical conditions.
To all parents, We would like to say that if you come across any such advertisements do consult about it with your family doctor first because some of the treatments being advertised may cause harm to patients.
Stay Safe Stay Aware!