New Hope for Duchenne Muscular Dystrophy Patients

New Hope for Duchenne Muscular Dystrophy Patients

Duchenne muscular dystrophy (DMD) is a genetic disorder and the most severe form of muscle diseases with a degenerative nature. It is hereditary and sex related. While it occurs almost exclusively in boys, women are carriers of the mutated gene.  Rarely, this disorder can occur within a family with no history of DMD, due to the chance that it was somehow not properly diagnosed, or to accidental new genetic mutation that may have happened in a woman’s egg cells. A recent study conducted by a team of The Research Institute at Nationwide Children’s Hospital brings new hope for Duchenne Muscular Dystrophy patients when it comes to therapy drugs for this severe disorder.

According to The National Human Genome Research Institute, the number of people affected with this disease is around 1 in 3,500 male births worldwide. Due to the gene mutation, muscles of people with DMD are in total lack of the protein called dystrophin – important in the process of muscles contraction. Deficiency of the dystrophin causes damage to the muscle fibers, and eventually leads to the weakening and deterioration of muscle mass, which becomes replaced with fat.

A new drug, called eteplirsen, currently on clinical trial, is designed to overlook the missing parts of the gene and therefore, to induce the patient’s body to produce the absent protein. The research included 12  boys diagnosed with DMD, age 7 to 12 years, divided in three groups – two of them received the drug in different amounts, and the third was the placebo-group. But, due to significant progress in first two groups registered after 24-week of receiving the drug, and the fact that no side effects were shown, even the control group started taking the eteplirsen from this point of the study. Concretely, new hope that this drug brings to the people with Duchenne Muscular Dystrophy was registered in the overall result of a 52 percent increase in dystrophin-positive muscle fibers after 48 week of receiving the drug, than the patients had at the start of the clinical trial. This also manifested through the possibility to walk farther that the placebo group on the walk-test used in the study, a whole 67.3 meters farther.

“I’ve been doing this for more than 40 years and this is one of the most exciting developments we’ve seen,” said the lead author of the study published in the journal Annals of Neurology, Jerry Mendell, MD.

These results are especially encouraging when we know that medicine, at least for now, cannot influence the causes of Duchenne muscular dystrophy, so currently the treatment is symptomatic. Usually, the first symptoms can be seen when a child is between 3 and 5 years old and the irregularity can be observed when a child is running and jumping. Parents should contact a pediatrician if they notice that a child is clumsy and falls often, have difficulties climbing stairs, getting up from the floor or running, has enlarged calf muscles.

The weakness develops progressively and is more prominent in the legs and the pelvis, than in the shoulder area. By the age of 10 the majorities of children with DMD starts using braces, and to the age of 12 most are confined to a wheelchair. Life expectancy in these patients is around 25 years, mainly because of the breathing complications and cardiomyopathy, but thanks to medical headway it is gradually becoming longer.

With this being said, the clinical trials of this new drug are really encouraging. Since the study sample was small, there are numerous open questions regarding this promising treatment, but, like Dr. Mendell said: “It offers great hope to patients with Duchenne muscular dystrophy and their families.”

By: Milica Zujko

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25 Responses to "New Hope for Duchenne Muscular Dystrophy Patients"

  1. kavitha   February 9, 2016 at 7:16 pm

    my son is 10yrs old he has got dmd,is there a treatment please let me know

    Reply
  2. Vibhati Manchanda   January 3, 2015 at 4:25 am

    My son , aged 11 is having DMD & he is on wheel chair by the age of 7 . Now he needs more comfortable wheel chair as his spinal cord is bent towards right side. Pls help us to find out right chair for him.

    Reply
    • ashu   January 3, 2015 at 4:39 am

      for DETAILS

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      Reply
  3. hemlata   November 26, 2014 at 10:33 am

    My son is suffering from dmd now he is 13yr old pls help us regarding this disease now he is bed ridden.

    Reply
  4. Binal   October 29, 2014 at 6:00 am

    My brother is suferring from DMD. He is 21 years old.Please suggest if there is any treatment available for this age group.

    Reply
    • Dr.ramesh bhardwaj   October 29, 2014 at 7:16 am

      for details
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      thanks

      Reply
  5. venkat   October 28, 2014 at 7:57 am

    my son is suffering from dmd now he is in 4 years old..can any body help my son,can you tell if any treatment for my son.

    Reply
  6. FAHEEM AKHTAR MEMON   October 12, 2014 at 12:20 pm

    my nephew age 16 year’s he is suffering from DMD since last ten year’s , so in this regards i need your help about guideline and treatment, Thanks

    Reply
  7. Ghanshyam pd sah   September 24, 2014 at 3:10 am

    My son is suffering with DMD.HE is14. Is there any treatment, pl. inform me.

    Reply
  8. Sunil Thumati   September 12, 2014 at 7:33 am

    Please inform me if any treatment is available. My brother is suffering with this problem from past 10 years.

    Reply
  9. A Shankar Ram   September 10, 2014 at 10:40 pm

    please inform me if any treatment is available

    Reply
  10. jackline   August 27, 2014 at 1:35 pm

    please inform me too if their are any treatments yet. i have a case with DMD.+17635686378

    Reply
  11. usman   August 19, 2014 at 1:34 am

    plz any treatment of md plz cntct me
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  12. M. Nasrullah   August 2, 2014 at 2:44 pm

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  13. rashid   July 14, 2014 at 12:24 pm

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  14. vivek   May 24, 2014 at 1:07 pm

    PLEASE INFORM IF ANY TREATMENT FOR DMD
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  15. nitin talsaniya   March 23, 2014 at 9:50 am

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  17. Vijay Singh   December 25, 2013 at 9:04 am

    when will be the treatment for this disease will be available in india.

    Reply
  18. Srinivas   October 30, 2013 at 4:00 am

    when will this treatment available for common man in india

    Reply
    • Dr.bhardwaj   October 30, 2013 at 7:56 am

      for DETAILS

      please contact to

      Dr.bhardwaj

      # 0-9811127065

      thanks

      Reply
  19. Dr. ramesh bhardwaj   September 23, 2013 at 10:38 pm

    for successfull treatment of D M D VISIT- http://www.homoeopathic-world.comd

    Reply
  20. Lenshina S.Knuckles   September 12, 2013 at 8:13 am

    WHEN WILL THIS TREATMENT BE WORLDWIDE?

    Reply
  21. Nithya.J   September 1, 2013 at 7:26 pm

    when will the treatment for duchenne muscular dystrophy will be live in India

    Reply
    • kamesh nath   May 16, 2014 at 8:23 am

      We have an excellent herbal cure for DMD and all other types of muscular dystrophy like Bekers, SSP HSP, FSH etc. Contact Nath 09810995562(delhi)

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