Clinical Presentation of Muscular dystrophy

           The muscle weakness is mainly in the 'proximal' muscles, which are those near the trunk of the body, around the hips and the shoulders. Weakness typically starts proximally in the lower extremities, then moves distally. Weakness in the upper extremities tends to appear later. This means that fine movements, such as those using the hands and fingers, are less affected than movements like walking.

The symptoms usually start around age 1-3 years, and may include:

#Difficulty with walking, running, jumping and climbing stairs. Walking may look different with a 'waddling' type of walk. The boy may be late in starting to walk (although many children without DMD also walk late).
#When you pick the child up, you may feel as if he 'slips through your hands', due to looseness of the muscles around the shoulder.
#Toe-walking
#Frequent falls
#The calf muscles may look bulky, although they are not strong.
As he gets older, the child may use his hands to help him get up, looking as if he is 'climbing up his legs'. This is called 'Gower's sign'.
#Some boys with DMD also have a learning difficulty. Usually this is not severe.
#Sometimes, a delay in development may be the first sign of DMD. The child's speech development may also be delayed. Therefore, a boy whose development is delayed, may be offered a screening test for DMD. However, DMD is only one of the possible causes of developmental delay - there are many other causes not related to DMD.

If You Suffer From Foot, Knee, or Hip Pain, Here Are 6 Exercises to Kill It..

If You Suffer From Foot, Knee, or Hip Pain, Here Are 6 Exercises to Kill It

Between 25% and 70% of people in the indian suffer from knee pain, which is the second largest cause of chronic pain. But even without it, we all suffer from minor injuries and tiredness from time to time. Here are some tips on how to use physical therapy to possibly make you feel better.

Heel raises;
To start off, grab a chair and stand behind it.
Raise one of your legs.
Slowly raise the heel of your other leg until you’re standing on your toes.
Slowly put the heel back on the floor.
Repeat this exercise 10-15 times on each leg.
This will strengthen your ankles and work on the muscles around the knee.

Toe walking;
This is a simple exercise that you can do while maintaining your house or doing your other chores. Simply walk around on your toes at a fast pace — this will strengthen your calves and give a small workout to your toes and the balls of your feet.

Keep walking for 5 to 15 minutes or until tired.

Ankle сircles;

To work on weak ankles you should do the following:

Sitting down or standing up, raise one leg.
Slowly rotate the foot of that leg in a circular motion.
Repeat this 10 times in an inward circle and 10 times in outward circles for each leg.

Resistance training;

For this next exercise, you’ll need a resistance band.

Fix the band around the couch leg or any other standing piece of furniture.
Put one of your legs under the other, slightly bent at the knee.
Grab onto a resistance band with the foot of the leg on top.
Slowly pull the band, bending your foot toward your head.
Repeat this 10-15 times on each leg.
This incorporates the work of calf muscles and your inner and outer thigh muscles.

Toe games;

To exercise your toes on a daily basis you can play a game called “grabbies”.

Curl your toes on their own.
Put a towel on the floor and grab onto it with your toes.
Put small pebbles on the ground and try to put them in a basket using just your feet.

Walking on balls;
To relax and train the balls of your feet:

Find a tennis ball or a ball of a similar diameter.Sit on a chair.
Place your foot on the ball and step on it.
Slowly push the ball with your foot toward the toes and then backward.
Enjoy the massage!

Mayopathy (institute of muscular dystrophy

Scoliosis (Non-ambulant patient with Duchenne muscular dystrophy )

Scoliosis is a frequent complication in the
untreated scoliosis is associated with multiple complications such as compromised seating and trunk balance, discomfort, pain and difficult attendant care, exacerbation of any underlying cardio- respiratory dysfunction.

non-ambulant patient with Duchenne muscular dystrophy (DMD). Weakness of the para spinal muscles leads to trunk and body positional changes facilitating the development of a progressive collapsing scoliosis.

Research suggests that up to 90% of boys would develop scoliosis without intervention. A physical therapist may be the best person to monitor the spine, as he or she is likely to see the child more often than his medical specialists and will be able to detect early change.
Parents can play an important role in protecting their son’s spine by carefully and routinely checking his posture in his chair. As a young man grows, changing the dimensions of his chair helps maintain the best upright posture without his having to lean.

What can be done?
The following are some management approaches that may be offered to slow down the progression of the scoliosis in your child:

#Standing and walking have a protective effect on the development of scoliosis. It will benefit children who are able to walk (supported or unsupported) to keep mobile and encourage symmetrical supported standing (for example with standing frames) in those who can stand for as long as possible.

Those children who walk well but who have an increasing scoliosis (an uncommon situation) may benefit from wearing a plastic spinal support called a brace.

For young children who are unable to walk, a spinal brace may be recommended to delay the progress of scoliosis until most of the growth of the spine is completed and allow optimal sitting position of your child.

If your child is sufficiently well grown, or if the curve is progressing quickly or the breathing or heart function deteriorates an operation to correct the scoliosis and stabilize the spine is likely to be the treatment of choice.

Modified seating arrangements for their electric wheelchairs might be an alternative solution for those children who are overweight or where surgery is declined or not an option in view of severe respiratory or cardiac problems.

Food and Drug Administration (FDA, the American drug regulator) say an application to licence eteplirsen would be premature

Tuesday 12 November 2013

Sarepta Therapeutics announced today that the Food and Drug Administration (FDA, the American drug regulator) in the USA considered the company's plans to file an application for eteplirsen to be licensed as premature. 

 The FDA is basing their decision partly on the results of the large phase 3 clinical trial carried out by GlaxoSmithKline and Prosensa that showed that drisapersen - a drug similar to eteplirsen - failed to show that boys who received the drug could walk further than those that received placebo (an inactive form of the potential drug). They also state that there are new findings regarding the natural progression of Duchenne muscular dystrophy, which suggests that the stabilisation observed during Sarepta's phase 2b extension trial might not be caused by the drug but could be due to the natural course of the condition. The trial involved only a small number of boys and a larger study will be needed to demonstrate that eteplirsen is an effective treatment.

The FDA also expressed doubts that dystrophin can be used as a biomarker in clinical trials. Biomarkers are biological substances found in blood, urine or other parts of the body that can be used as an indicator in clinical trials to see how well the body responds to a potential treatment. In the FDA's opinion, there is not sufficient knowledge about the levels of dystrophin that are needed in the muscle to assume that its levels can show whether a treatment will be effective.

Sarepta Therapeutics is committed to continuing with a phase 3 trial which they plan to start early next year. The trial will involve about 120 boys. As soon as we receive more details we will update this page to keep you informed.

Dr Marita Pohlschmidt, Director of research at Muscular Dystrophy Campaign, said:

   “The refusal of the FDA to grant Sarepta’s request for an opportunity to apply for a license for eteplirsen will be upsetting news for many families. The decision reflects concerns that the results of Sarepta’s Phase 2b clinical trial were based on a very small group of boys and that a Phase 3 trial is necessary to demonstrate that eteplirsen is an effective treatment for Duchenne muscular dystrophy. We welcome Sarepta’s commitment to pushing ahead with a Phase 3 trial, due to start early next year.”

Chris Garabedian, president and chief executive officer of Sarepta Therapeutics said:

We are very disappointed with the FDA's decision to reconsider their openness to a potential NDA filing based on our current data and the resultant impact this change may have on our efforts to achieve an earlier approval of eteplirsen. We strongly believe in the potential of eteplirsen to address a serious unmet medical need in DMD and we are committed to its development. Our team at Sarepta recognizes the urgency of families who are seeking new treatments, and we will continue to work with the FDA on an acceptable confirmatory study design and, in parallel, seek to address their concerns regarding a potential NDA filing based on our current dataset.

Sarepta Therapeutics eteplirsen results accepted for publication

Tuesday 6 August 2013

Sarepta Therapeutics eteplirsen results accepted for publication

The results of Sarepta Therapeutics' phase 2b clinical trial of eteplirsen - a potential exon  skipping drug (or molecular patch) - have been accepted for publication in a medical journal. The study focuses on the first 48 weeks of the trial. After boys with Duchenne muscular dystrophy received the potential drug, production of the dystrophin protein was restored in up to 50% of the muscle fibres that were examined. Researchers also noted that boys who took eteplirsen for 48 weeks were able to walk, on average, 67.3 metres further in six minutes than those who took a placebo (an inactive drug) for 24 weeks followed by eteplirsen for 24 weeks. Importantly, the results show that eteplirsen was safe, with no serious side effects observed in any boy in the trial.

Whilst these results are promising, but the trial was small, with only 12 boys in total. It is therefore possible that a larger trial will be required to confirm these results. Importantly, the company's paper has been accepted for publication in a scientific journal (called Annals of Neurology). This is the first time the results of the trial have been subjected to peer review. Peer review is a process of quality control for science which lets independent scientists (peers) examine the methods and results of a study to check that the conclusions reached are correct. The scientists can highlight inaccuracies or problems in the study which the authors must address before publication.

Dr Marita Pohlschmidt, Director of Research at the Muscular Dystrophy Campaign, said:

It is really encouraging that Sarepta Therapeutics has chosen to publish these results in a peer-reviewed journal. Peer review is 'quality control' for the scientific community. By publishing its results in this way Sarepta is allowing independent scientists to scrutinise the study and its conclusions.

What we need to see now is eteplirsen tested in a larger group - this trial included only twelve boys - to confirm these promising results.

Sarepta Therapeutics eteplirsen update...

Muscular Dystrophy Campaign
61A Great Suffolk Street
London
SE1 0BU 

Thursday 25 July 2013

Sarepta Therapeutics eteplirsen update

In a press release, Sarepta Therapeutics yesterday announced that they plan to submit a licensing application for eteplirsen early in 2014. If the application is successful, Sarepta could be given permission to market eteplirsen in the USA. The company has also announced further details of a phase 3 trial being planned for next year and given an update on the results of the phase 2b trial that is ongoing.

In a press release, Sarepta Therapeutics yesterday announced that they have held recent meetings with the Food and Drug Administration (FDA), the drug regulator in the USA, in which they presented the latest results from their ongoing phase 2b trial of eteplirsen. Eteplirsen is a potential exon skipping drug for boys with Duchenne muscular dystrophy. Following these meetings, the FDA has said they would be willing to consider a licensing application based on the current trial results. Sarepta now plans to submit the application early in 2014.

A licensing application means that the FDA will review the evidence from clinical trials and pre-clinical testing of eteplirsen. They will decide whether the potential drug is safe and effective and decide whether Sarepta should be given a licence to market eteplirsen in the USA. It must be noted that this announcement is not a guarantee that the licence will be granted - just that the FDA is willing to look at an application. Also, the application will only apply to the USA - a separate application will need to be made in Europe. Sarepta is now working towards producing the application and will continue to meet with the FDA to make sure the application is as complete as possible.

Along with planning a license application, the company has started to scale up production of eteplirsen, a process which is so far going according to plan. Although the scaling up process will require a lot of testing and careful quality control, Sarepta hopes that by the end of 2014 it could be in a position to supply eteplirsen to between half and all of the boys in the USA who could benefit from the potential drug. If a license is not granted by the FDA, the increased production will be used to support a larger phase 3 trial which Sarepta is currently planning. This will aim to confirm the results of the current trial (see below for the latest results) and is likely to include approximately 50 boys each in a treatment and control group (who will not receive eteplirsen). The design of the trial is still being finalised and we will bring you more details when they become available. 

Recently, Sarepta also gave an update on the latest results of their ongoing phase 2b trial of eteplirsen. At a conference in Massachusetts, the company announced that the distance boys canwalk in six minutes is still stable after 84 weeks. Although this is encouraging, the trial includes only ten boys in total and so the results must be viewed with some caution. The company is still performing regular check-ups on all the boys in the trial to monitor the safety and effectiveness of the potential drug and plans to present results up to 96 weeks at a meeting of the World Muscle Society in October.