Duchenne Muscular Dystrophy

This disease gets its name from the protein dystrophin, which due to mutation of its on the genetic material (DNA) is not produced or produced in an functional way. The disease affects mainly boys, 1: 3,500 births worldwide every year due to the way it is inherited and symptoms can be evident from the ages of 3-5 years or even earlier. Girls are carriers of the mutant gene, usually do not get sick (they may have muscle weakness and fatigue), unless their father and their mother are both carriers, which is extremely rare.

This disease primarily affects the skeletal muscles that control the movement of the human body and the heart muscle. Progressively, the muscles of pelvis and legs are affected and atrophied, followed by the muscles of the limbs, the throat and progressively many others.

The first symptoms that can be observed are:

  • Impotence – frequent falls,
  • Difficulty in running,
  • Difficulty of climbing stairs,
  • Difficulty in lifting off the ground (Gower point, where the knees touch the knees in order to get up) or from a chair,
  • Development of large tibia,
  • Gradual occurrence of the walking feature on toes,
  • Delayed speech initiation,
  • Behavioral or learning difficulties.

By the age of 8-14 years, a wheelchair may be needed due to the loss of walking ability. In addition, scoliosis develops due to weak body posture. In the middle of puberty, symptoms of cardiomyopathy are manifested, and at the age of 20, respiratory problems may begin as the intervertebral muscles and the diaphragm are affected by the disease. Endocrine issues might manifest. 

How can I be sure of the diagnosis?

  • The child has muscular weakness and large legs, which are identified by appropriate clinical examination.
  • Genetic diagnosis demonstrates the type of mutation in the dystrophin gene and is confirmed by the biopsy of the muscle, where its lack of muscle cells appears.
  • In biochemical blood tests CK enzyme is very high, which proves damage in muscle cells.

What happens after diagnosis?

The child’s therapeutic management is conducted by a group of specialized professionals, a multidisciplinary team.

  • Physiotherapy begins with everyday exercises and not difficult by the child itself and with the parents’ help. Later, supportive devices are used, which contribute to the correct posture of the body. Watch playlist  with physio exercises in MDA’s youtube channel: https://www.youtube.com/playlist?list=PLgQ8ZEc-HmV80WwkVNtNnuzwTywmgxN-E
  • The heart is monitored with the necessary examinations every year or more often and of course there is a close monitoring from every specialty of the multidisciplinary team.
  • At an appropriate age, corticoids are taken to help maintain upper and lower limb movement and maintain proper musculoskeletal function as well as proper respiratory function.
  • Every child should be monitored by a nutritionist, especially after taking the corticosteroids, for weight control, and in order to properly obtain the necessary nutrients.
  • Psychological support for children and parents is required, as well as communication and contact with people with similar concerns, with the aim of exchanging experiences, agonies and mutual support.
  • There should be contact with organizations that deal with and safeguard patients’ rights and seek to find new, safe and more effective pharmaceutical approaches.

Information about clinical trials conducted globally: https://www.centerwatch.com/clinical-trials/listings/condition/350/muscular-dystrophy/ and https://clinicaltrials.gov/ct2/home

For more details on patient care, consult the “Standards of Care” and the latest articles related to them (23/1/2018):

  1. Birnkrant D.J., Bushby K. et al., Diagnosis and Management of Duchenne Muscular Dystrophy, Part 1: Diagnosis, and Neurosurgery, Rehabilitation, Endocrine, and Gastrointestinal and Nutritional Management, The Lancet, 2018.
  2. Birnkrant D.J., Bushby K. et al., Diagnosis and management of Duchenne muscular dystrophy, Part 2: respiratory, cardiac, bone health, and orthopedic management, The Lancet, 2018.
  3. Birnkrant D.J., Bushby K. et al., Diagnosis and Management of Duchenne Muscular Dystrophy, Part 3: primary, emergency management, psychosocial care, and transitions of care over the lifespan, The Lancet, 2018.

Family Guide :  MDA DMD Family Guide

Duchenne Standards of Care Videos, by World Duchenne Organization: https://www.youtube.com/watch?v=YFS8x59mrco&list=PLi4jXxW5UG9gZRGSJMwrTrUahC4U8Xj62&ab_channel=WorldDuchenneOrganization  

Updated information on nutrition:  https://drive.google.com/file/d/1hvT_w19poEjQEqhyFBa42wrHbJPqmTQl/view?u…


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