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myTomorrows joins in observing World Duchenne Awareness Day

What is World Duchenne Awareness Day?

myTomorrows

Sep 13, 2020·4 min read

Today is the 7th annual World Duchenne Awareness Day, which is intended to raise awareness around Duchenne muscular dystrophy (DMD) as well for the children, young adults and families who are affected. The many individuals and patient advocacy groups that are part of the global Duchenne community are advocating for earlier diagnosis, better access to care and more research. myTomorrows joins these urgent voices in calling for the same.

Duchenne muscular dystrophy (DMD) is one of a group of nine muscle disorders known as muscular dystrophies. This group of inherited genetic diseases are characterized by mutations in genes that produce proteins essential for normal muscle function. This results in progressive muscle weakness that impairs walking, sometimes causes joint contractures as well as spinal deformity and, in certain types, eventually affects breathing and functioning of the heart.

DMD is the most severe and common of the muscular dystrophies, accounting for 50% of cases. DMD has an X-linked recessive inheritance pattern meaning that it predominantly affects males who inherit their only X chromosome (with the DMD mutation) from either one of their parents. The mutation results in the production of an abnormal form of the protein dystrophin. In addition to muscle weakness, behavioral problems may also be a symptom as dystrophin has an important function in the brain as well. Females, designated “carriers” on account of “carrying” one abnormal X chromosome and having one normal one, produce enough normal dystrophin to not display any symptoms or only do so later in life (as compared to males).

Amongst the muscular dystrophies, DMD and Becker muscular dystrophy (BMD) are known as dystrophinopathies because they are both caused by mutations in the dystrophin protein. BMD is less prevalent and less severe than DMD but does have similar symptoms and shares certain treatment strategies.

While DMD is categorized as a rare disease, it is one of the most frequently occurring genetic conditions and is seen in 1 case per 3,500 live male births worldwide. Histological and enzyme level tests can already show evidence of DMD at this point in life, but neonatal screening for DMD is not widely available. The clinical onset of DMD is typically between age three and five when difficulty walking, running and climbing stairs are noted. Muscle weakness then progresses to cause wheelchair confinement around age 12, with most patients not surviving the heart and lung complications that develop in their mid to late twenties. The progression of the disease is treated with a number of medical and surgical strategies with many Clinical Trials on-going.

  • Delayed motor milestones in a child with a family history of DMD
  • Failure to walk by age 16 to 18 months
  • Gower’s sign — use of the hand to support standing up from the floor
  • Toe walking
  • Enlarged calf muscles
  • Poor head control
  • Not running by age 3 years
  • Struggling to hop, climb stairs, or get up from the floor in school-aged children
  • Frequent trips or falls
  • Abnormal (typically “waddling”) gait
  • Muscle pain or cramps
  • Learning difficulties and behavioral issues
  • Speech and language delay
  • Autism spectrum disorder
  • Creatine kinase levels in the blood — if elevated it is evidence of the presence of a muscular dystrophy.
  • Molecular genetic testing to determine if the mutation in the dystrophin gene is present.

Great strides have been made in gene therapy and molecular biology directed at treating DMD and other muscular dystrophies. However, these diseases all remain incurable. As previously mentioned, early diagnosis and access to care are important components of treatment. Access to psychosocial services, ventilatory support and good nutrition are some of the supportive measures that, together with appropriate treatment, significantly affect quality of life. Unfortunately, with even the best standard of care, most patients die by the age of 30 years due to heart and lung complications.

Glucocorticosteroids

These drugs are the most widely used to manage the symptoms of DMD. While the mechanism of action is not fully understood they have been shown to be effective in improving strength and lung function. Their prolonged use does, however, have significant side effects.

Targeted therapies (approved)

These therapies target certain parts of the dystrophin gene causing them to be skipped during production of the protein. This causes a shorter but more functional form of dystrophin to be produced.

Clinical Trials

  • Targeted therapies — similar mechanism of action as the approved targeted therapies but with different targets
  • Gene therapy — this involves using a vector to transfer normal genes
  • Cell therapy — this involves transferring healthy immature skeletal muscle cells

Surgery

  • Release of joint contractures
  • Correction of spinal deformities

DMD remains an incurable disease. Its impact can be ameliorated by interventions that cover everything from making improvements in diagnosis to facilitating better access to specialist medical and psychosocial services. Raising awareness over the course of this day is a good place to start, but it is clear that a great deal more action is required to help the 250,000 or so affected patients and their families. Providing an easy-to-access source of information on potential treatment options is one of the ways in which myTomorrows supports the Duchenne community all year round. This service is free of charge for patients and their physicians. We believe that sharing timely, relevant and actionable information with all stakeholders is an important step in seeing more participation in clinical research and the development of treatment options.

Find out more at: mytomorrows.com

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