Muscular Dystrophy explained by Dr. Rasha El-Sherif

CAIRO - 24 January 2018: Muscular Dystrophy affects thousands of people in Egypt who suffer in silence as a result of a lack of public awareness concerning the disease. To understand more about muscular dystrophy, Egypt Today sat down with Rasha El-Sherif MD, the leading Consultant of Neurogenetics and a Muscular Dystrophy Specialist.

Dr. El-Sherif holds a Ph.D. in Neuromuscular disorders; she completed her thesis in Japan under the title “Dystrophin gene analysis in Egyptian patients.” There, she completed her training on molecular genetics of muscle disease as a research fellow in the NCNP department of Neuromuscular disorders in Tokyo, Japan, and is the brains behind setting up Egypt’s leading and first Neurogenetics Lab in Ain Shams University, Neurology Department, for diagnosing neuromuscular disorders in 2000 under the supervision of Professor Etribi, the director of the department at that time.


FILE – Dr. Rasha El-Sherif
To raise awareness, Dr. El-Sheirf has previously coordinated medical convoys to cities in Egypt, including Aswan, Minya and Menoufia to help in diagnosing muscle disease patients and to raise public awareness for the importance of ensuring and applying the standards of care.

In the interview, she explained to us in detail the disease’s origin, impact and the kind of awareness she is trying to raise.

ET: What is muscular dystrophy?

RS: They are a group of inherited diseases that affect the muscles progressively. There are more than 50 types, according to the affected protein or enzyme that is deficient in the body. Most probably it is due to a mutation in one of the genes that is responsible for the proteins that strengthen the muscles. This mutation appears in early age or later in life according to the importance of the deficient protein and its function in the muscle.

For example, there are three types of Spinal Muscular Atrophy (SMA). One of the SMA types starts in newborns; neck support is very weak and barely existent at the age of three months, which is when they should be able to hold up their necks, and back support is minimal by six months, which is when they should be able to sit-up with no support. Their respiratory systems are usually affected which results in their frequent trips to the hospital; having a cold often progresses to bigger problems.

There is also Duchenne Muscular Dystrophy (DMD), which starts to show when children start running, jumping, and climbing staircases. The child usually is able to run and walk but is unable to do the aforementioned due to weak muscles. There are also a lot of adult muscular dystrophy types.

It is important to mention that muscular dystrophy is treatable not curable, but patients can still live a full life with therapy and treatment.


ET: How is it diagnosed?

RS: Now the diagnoses of most muscular dystrophy types can be made through a blood test DNA which shows whether there are mutations in the responsible gene for example in case of SMA the SMN1 gene, which is responsible for making survival motor neuron (SMN) protein or the Dystrophin gene in DMD.

As a start whenever a case is suspected as muscular dystrophy, a blood test, which costs about LE 100 ($5.65) at most, that measures the amount of the Creatine phosphokinase (CPK) enzyme in the body should be done. CPK is mainly in the heart and skeletal muscle and elevated levels of it indicates that one suffers from muscular dystrophy. Normal CPK levels range from 50 to 200 in an individual that does not suffer from muscular dystrophy, however, for those who suffer from it, its levels rise in the blood. The level of CPK is also a marker for specialists, as it also indicates which group of muscular dystrophy the individual suffers from.

ET: What are the symptoms if one is not diagnosed or left untreated?

RS: They start to develop stiffness in the joints, they may have good muscle power but they could be wheelchair-bound simply because of problems with their joints. The joints themselves become contracted. This is a bad quality of life, their muscles would still be healthy and yet, they cannot walk because of lack of diagnosis or treatment.

Then, the heart and respiratory muscles deteriorate, leaving one in need of being under supervision, frequently being hospitalised, and in need of more care. Treating and working to strengthen heart and respiratory muscles from early on can prolong patients’ lives and raise the quality of their lives.

Then, we get problems with the bones, some [types of] patients may develop cataracts, as well as many other diseases and complications that often happen.

ET: Are there treatments?

RS: Thankfully, FDA-approved (U.S. Food and Drug Administration) treatments now exist for some types of muscular dystrophy. And more treatments for other types are now in their third trials and are expected to be approved by the FDA soon. Genetic diagnosis is mandatory now for all cases.

Many patients worldwide are undergoing therapy right now and have developed muscle power and better respiratory muscles, meaning they do not need respiratory support anymore.

There have also been discussions about stem cell therapy, and some claim to use it to treat muscular dystrophy. However, until now, there has not been enough research work done and trials to prove that it does work. So, for me, I cannot say that stem cell therapy works and I would warn patients against it. No research has shown as of yet that stem cell therapy works and research and trials have also shown that it has very severe complications.

All treatments need to be approved by the Ministry of Health, even if the FDA approves them. The ministry does very rigid tests and research on each treatment before its approval, meaning that once it is approved it is 100 percent guaranteed.


ET: Are there medical trials carried out on Egyptians abroad?

RS: In short, no.

For any treatment to be FDA-approved, it needs to be approved via clinical trials but this does not happen unless it is approved by the Ministry of Health, which has very clear, rigid standards to ensure that no one takes advantage of patients.

If any pharmaceutical company offers trials, we have to speak to the ministry and we cannot give out patient information to companies or any entity at all.

There was only one case where an Egyptian living in Egypt did get included in clinical trials, however, they did not get in through a doctor in Egypt. They travelled to the U.S. to do medical checks there and by chance, there was an on-going medical trial, and so, he was offered a place in the trial.

He was also given a list of doctors who he can follow-up with in Egypt, which included my name. And he decided to follow-up with me once he got back. As the medicine is now FDA-approved, he is now being given the medicine for free every six months by the U.S. Institute that carried the trials.

ET: What is it like living with muscular dystrophy?

RS: They lead a very difficult life, and their families [do] too. For children that suffer from muscular dystrophy, the parents need to send them to special schools and there is a need for constant close care, meaning that what often happens is that one of the parents would have to give up their career to take care of the children.

Adults with muscular dystrophy can only do certain jobs that do not require a lot of movement and they need someone to take care of them too and require a career at a certain stage.

Those who have muscular dystrophy can also get married and bear children. With follow-ups, patients now live a normal life span, meaning they can get married and have children.

However, what they need to bear in mind and take account of is genetic counselling when they decide to have children so that we can find out how this disease is inherited. This allows us to know whether he or she is allowed to get married to their cousins or whether their children are allowed to get married to their cousins, as is the case in Egypt often. It also allows us to know the probability of their children suffering from muscular dystrophy and means that they will be able to follow up and do the required tests at a very early stage. Genetic testing is vital.

ET: I know that you were invited to speak in front of the Health Committee in the Parliament about muscular dystrophy. Can you tell me more about this?

RS: I was very proud and happy to be invited to parliament by Dr. Ayman Aboulela, the Vice-President of the Health Committee, to speak in front of the Health Committee about muscular dystrophy about three weeks ago. I spoke about different types that exist and available treatments, as well as giving them information from my registry, which I had been accumulating since 2013.

At the end, I am very happy that they are in the process of including those who suffer from muscular dystrophy as disabled, meaning that they will be able to seek benefits that will facilitate their lives.

I was especially happy that the committee concluded that a fund for those with muscular dystrophy will be launched, like the Tahya Misr (Long Live Egypt) fund. There are a lot of poor people who suffer form this disease and having a fund allocated to them guarantees them a better quality of life, especially since in Egypt, we often find that there are several patients in one family, as it is hereditary.

I am personally looking forward to the Ministry of Health’s move towards including these newly FDA-approved treatments in the new Universal Healthcare System after running their own research and trials, which are to the highest of standards. The Universal Healthcare System is a positive move towards a better quality of living for all Egyptians and is an accomplishment that we should all be proud of.

ET: What is the most important things to overcome muscular dystrophy?

RS: Early diagnosis is key. The earlier we diagnose, the earlier we start therapy and set standards of care, the better for the patient. It can prevent or at the very least delay its progression.

Muscular dystrophy means that the muscles are breaking down, if we start early and do physiotherapy, we will take care of the muscles and ensure their deterioration is slower. We will be able to ensure that the heart and respiratory muscles remain well and healthy, meaning that the patient will live a life with higher quality. In children specially, early diagnosis could mean that the patient will walk until 15 years, instead of being wheelchair-bound at eight or nine years of age.

The second thing, which is as important as early diagnosis, is psychological care. For children who suffer from muscular dystrophy especially, this is important. If a child sees their parents sad all the time, crying or giving up hope, they will give up hope as well. This is also the case for adults who suffer from muscular dystrophy.


FILE – Dr. Rasha El-Sherif
The third thing that I would recommend is swimming. It ensures that muscles remain strong as much as possible, and also reduces the likelihood of developing joint problems, as well as other problems. Plus, psychologically speaking, it is great for both children and adults to feel that they are normal and can go swimming.

ET: What are popular indicators for parents and individuals to look out for?

RS: For parents, my advice would be to go see a muscular dystrophy specialist if your child cannot support their neck or back by three months and six months, respectively. If your toddler cannot climb the stairs like other kids, run or jump, please, please, please seek medical help.

For those over 19 years of age, if you find yourself no longer being able to do sports that you used to, walk as much or climb the stairs like you used to, go to a specialist in muscle dystrophy. In those over 19, you start to gradually lose the ability to do as much sports as you used to or move around as much as you normally would. For adults, it could also present itself via pains in muscles, arms and legs. Sometimes it starts from the arms and the patient cannot raise their arms or carry heavy objects.

A simple blood test that costs only LE 100 done in any lab could mean that the child would be diagnosed early on, which is key to ensure a high quality of living and mitigate, or at the very least reduce, deterioration.

ET: What would you advice patients with muscular dystrophy to eat or stay away from?

RS: Nutrition is very important for muscle dystrophy patients, as is usually the case for patients of any disease or syndrome.

All muscular dystrophy patients have to live a healthy life. The muscles break quickly and so there is a need for a balanced diet, even more than normal. Fruits, vegetables, proteins and vitamins, especially vitamin D, are vital to mitigate quick progression of the disease.

Those who take steroids need to stay away from added salt, preservatives, processed foods and refined sugar to reduce the risk of complications and diabetes. If a patient is not careful while on steroids, they would have to stop taking steroids, which would lead to the fast deterioration of the case. This means that following a healthy regimen is vital.

For children, please do not give them sweets or crisps. I always tell grandmothers that they can give them small toys instead or they can save up the money for sweets with them and get a big toy.


ET: What would you say to those who suffer from muscular dystrophy?

RS: Patients are heroes, and their families too. It takes a lot of mental power to live with muscular dystrophy or have a family member who suffers from this disease.

I also remind them that it is important not to panic when you first find out. There are standards of care in Egypt that ensure that one will live a good quality of life. The Ministry of Health has ensured that standards of care are regulated and are implemented.