Skip to main content

Duchenne Muscular Dystrophy (DMD)

This disease gets its name from the protein dystrophin, which due to mutation in the genetic material (DNA) is not produced or produced in the right 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 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 the legs and the pelvis 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.

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. By biochemical blood tests the CK enzyme is very high, which proves the disease, since this enzyme is derived from the damaged muscle cells.

What happens after diagnosis?

The child's observation begins by a group of specialized professionals. 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. The heart is monitored with the necessary examinations every year or more often. 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: and

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.


  • Muscular Dystrophy Canada, Duchenne Muscular Dystrophy,, August 30, 2017.
  • Muscular Dystrophy Canada, Duchenne Muscular Dystrophy.
  • Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test, Neurological Sciences, 2015, 25, 10, p. 749-753.
  • Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database of Systematic Reviews, 2016, 5.
  • Vision – DMD,
  • NORD (National Organization for Rare Disorders), Rare Diseases,
  • Muscular Dystrophy Association, About Neuromuscular Diseases, June 08, 2017,
  • K. Bushby, R. Finkel, D. J. Birnkrant, L. E. Case, P. R. Clemens, L. Cripe, A. Kaul, K. Kinnett, C. McDonald, S. Pandya, J. Poysky, F. Shapiro, J. Tomezsko, C. Constantin, Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management, 2009.
  • S. Abbs, S. Tuffery-Giraud, E. Bakker, A. Ferlini, T. Sejersen , C. R. Mueller, Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies, Neuromuscular Disorders, 2010, 20, p. 422–427.
  • A. M. Connolly, E. C. Malkus, J. R. Mendell, K. M. Flanigan, J. P. Miller, J. R. Schierbecker, C. A. Siener, P. T. Golumbek, C. M. Zaidman, C. M. McDonald, L. Johnson, A. Nicorici, P. I. Karachunski, J. W. Day, J.M. Kelecic, L. P. Lowes, L. N. Alfano, B. T. Darras, P. B. Kang, J. Quigley, A. E. Pasternak, J. M. Florence, Outcome Reliability in Non Ambulatory Boys/Men with Duchenne Muscular Dystrophy, , Muscle Nerve. 2015 , 51, 4, p. 522–532.
  • G. Schram, A. Fournier, H. Leduc, N. Dahdah, J. Therien, M. Vanasse, P. Khairy All-Cause Mortality and Cardiovascular Outcomes With Prophylactic Steroid Therapy in Duchenne Muscular Dystrophy, , Journal of the American College of Cardiology, 61, 9, 2013.
  • Bushby, K., Finkel, R., Birnkrant, D.J., Case, L.E., Clemens, P.R., Cripe, L., Kaul., A., Kinnett, K., McDonald, C., Pandya, S., Poysky, J., Shapiro, F., Tomezsko, J., Constantin, C., Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and phychosocial management, Lancet Neurol., 2010, 9, pp. 77-93.
  • Caspers Conway K., Mathews, k.D., Paramsothy, P., Oleszek, J., Trout, C., Zhang, Y., Romitti, P. A., Neurobehavioral concerns among males in dystrophinopathy using population-based surveillance data from the muscular dystrophy surveillance, tracking, and research network, J. Dev., Behav. Pediatr., 2015, 36(6), pp. 456-463.
  • Chung, J., Smith, A.L., Hughes, S.C., Niizawa, G., Abdel-Hamid, H.Z, Naylor, E., Hughes, T., Clemens, P.R., Twenty-year follow up of newborn screening for patients with muscular dystrophy, Muscle Nerve, 2016, 53(4), pp. 570-578.
  • Goemans, N., Buyse, G., Current treatment and management of dystrophinopathies, Curr. Treat. Opinions Neurol., 2014, 16, pp. 286-299.
  • Jansen, M., Van Alfen, N., Geurts, A.C. H., De Groot, I.J.M., Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: the randomized controlled trial “no use is disuse”, Neurorehabil. Neural Repair, 2013, 27(9), pp. 816-827.
  • Jansen, M., De Jong, M., Coes, H.M., Eggermont, F., Van Alfen, N., De Groot, I.J.M., The assisted 6-minute cycling test to assess endurance in children with a neuromuscular disorder, Muscle Nerve, 2012, 46, pp. 520-530.
  • Mirski, K.T., Crawford, T.O., Motor and cognitive delay in Duchenne muscular dystrophy: Implication for early diagnosis, J. Pediatr., 2014, 165, pp. 1008-1010.
  • Ombrone, D., Giocaliere, E., Forni, G., Malvagia, S., La Marca, G., Expanded newborn screening by mass spectrometry: new tests, future perspectives, Mass Spectro. Rev., 2016, 35, pp. 71-84.
  • Rahbek, J., Steffensen, B.F., Bushby, K., De Groot, I.J.M., 206th ENMC iinternational workshop: Care for a novel group of patients-adults with Duchenne muscular dystrophy, Naarden, The Netherlands, 23-25 May 2014, Neuromuscular Disord., 2015, 25, pp. 727-738.
  • Pane, M., Lombardo, M.E., Alfieri, P., D’Amico, A., Bianco, F., Vasco, G., Piccini, G., Mallardi, M., Romeo, D.M., Ricotti, V., Ferlini, A., Gualandi, F., Vicari, S., bertini, E., Berardinelli, A., Mercuri, E., Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype – genotype correlation. J. Pediatr., 2012, 161, pp. 705-709.
  • Friedman Ross, L., Ethical and policy issues in newborn screening of children for neurologic and developmental disorders, Pediatr. Clin. N. Am., 2015, 62, pp. 787-798.
  • Van Ruiten, H.J.A., Straub, V., Bushby, K., Guglieri, M., Improving recognition of Duchenne muscular dystrophy: a retrospective case note review, Arch. Dis. Child., 2014, 99, pp. 1074-1077.
  • Wong, S.H., McClaren, B.J., Archibald, A.D., Weeks, A., Langmaid, T., Ryan, M.M., Kornberg, A., Metcalfe, S.A., A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy, Eur. J. Hum. Genet., 2015, 23, pp. 1294-1300.
  • Tsakadze, N., Katzin, L.W., Krishnana, S., Behrouz, R., Cerebral infraction in Duchenne muscular dystrophy, J. Stroke Cerebrovasc., 2011, 20(3), pp. 264-265.
  • Banihani, R., Smile, S., Yoon, G., Dupuis, A., Mosleh, M., Snider, A., McAdam, L., Cognitive and neurobehavioral profile in boys with Duchenne muscular dystrophy, J. Child Neurol., 2015, 30(11), pp. 1472-1482.
  • Ricotti, V., Mandy, W.P.L., Scoto, M., Pane, M., Deconinck, N., Messina, S., Mercuri, E., Skuse, D. H., Muntoni, F., Neurodevelpomental, emeotional, and behavioural problems in Duchenne muscular dystrophy gene mutations, Dev. Med. Child Neurol., 2016, 58, pp. 77-84.
  • Perera, N., Sampaio, H., Woodhead, H., Farrar, M., Fracture in Duchenne Muscular Dystrophy: Natural history and vitamin C deficiency, J. Child Neurol., 2016, 31(9), pp. 1181-1187.
  • Wood, C.L., Straub, V., Guglieri, M., Bushby, K., Cheetham, T., Short stature and pubertal delay in Duchenne muscular Dystrophy, Arch. Dis. Child, 2016, 101:101-106.
  • Bartels, B., taken, T., Blank, C., van Moorsel, H., van der Pol, L., de Groot, J.F., Cardiopulmonary exercise testing in children and adolescents with dystrophinopathies: a pilot study, Pediatr. Phys. Ther., 2015, pp. 227-234.
  • Buddhe, S., Lewin, M., Olson, A., Ferguson, M., Soriano, B.D., Comparison of left ventricular function assessment between echocardiography and MRI in Duchenne muscular dystrophy, Pediatr. Radiol., 2016, 46(10), pp. 1399-1408.
  • Punnoose, A.R., Kaltman, J.R., Pastor, W., McCarter, R., He, J., Spurney, C.F., Cardiac disease burden and risk of mortality in hospitalized muscular dystrophy patients, Pediatr.Cardiol., 2016, 37(7), pp. 1290-1296.
  • Winterholler, M., Hollander, C., Kerling, F., Weber, I., Dittrich S, Turk, M., Shroder, R., Stroke in Duchenne muscular dystrophy, a retrospective study in 54 patients, Stroke, 2016, 47, pp. 2123-2126.
  • Colombo, P., Nobile, M., Tesei, A., et al, Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample, Eur. J. Paediatr. Neurol., 2017, 21(4), pp. 639-647.
  • Hendriksen, J.G, Klinkenberg, S., Collin, P., Wong, B., Niks, E.H., Vles, J.S., Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: a case report. Neuromuscul. Disord., 2016, 26(10, pp. 659-661. 


Muscular Dystrophy Association