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):
- 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.
- 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.
- 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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- AR. Punnoose, et al, Cardiac disease burden and risk of mortality in hospitalized muscular dystrophy patients, Pediatr.Cardiol., 2016, 37, 7, pp. 1290-1296.
- B. Bartels et al, Cardiopulmonary exercise testing in children and adolescents with dystrophinopathies: a pilot study, Pediatr. Phys. Ther., 2015, pp. 227-234.
- C.L. Wood et al, Short stature and pubertal delay in Duchenne muscular Dystrophy, Arch. Dis. Child, 2016, 101, pp.101-106.
- CM. McDonald et al, THE 6-MINUTE WALK TEST AND OTHER ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: LONGITUDINAL NATURAL HISTORY OBSERVATIONS OVER 48 WEEKS FROM A MULTICENTER STUDY, 2013, Wiley Online Library.
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- E. Matthews et al, Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database of Systematic Reviews, 2016, 5.
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- Muscular Dystrophy Canada, Duchenne Muscular Dystrophy, http://www.muscle.ca/about-muscular-dystrophy/types-of-neuromuscular-disorders/duchenne-muscular-dystrophy/, August 30, 2017.
- Muscular Dystrophy Canada, Duchenne Muscular Dystrophy. http://muscle.ca/wp-content/uploads/2012/11/434E_Duchenne_MD_2007.pdf
- Muscular Dystrophy Association, About Neuromuscular Diseases, June 08, 2017, https://www.mda.org/disease/
- M. Winterholler et al, Stroke in Duchenne muscular dystrophy, a retrospective study in 54 patients, Stroke, 2016, 47, pp. 2123-2126.
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- NORD (National Organization for Rare Disorders), Rare Diseases, https://rarediseases.org/rare-diseases/
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- N. Tsakadze, L.W. Katzin, S. Krishnana, R.Behrouz, Cerebral infraction in Duchenne muscular dystrophy, J. Stroke Cerebrovasc., 2011, 20, 3, pp. 264-265.
- P. Colombo 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.
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- S. Abbs et al, Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies, Neuromuscular Disorders, 2010, 20, pp. 422–427.
- S. Buddhe, et al, Comparison of left ventricular function assessment between echocardiography and MRI in Duchenne muscular dystrophy, Pediatr. Radiol., 2016, 46, 10, pp. 1399-1408.
- S.H. Wong et al, A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy, Eur. J. Hum. Genet., 2015, 23, pp. 1294-1300.
- Vision – DMD, http://www.uppmd.org/projects/vision-dmd/
- V. Ricotti et al, Neurodevelpomental, emotional, and behavioural problems in Duchenne muscular dystrophy gene mutations, Dev. Med. Child Neurol., 2016, 58, pp. 77-84.
- E. Mercuri, C.G. Bonnemann, F. Muntoni, Muscular Dystrophies, The Lancet 2019.
- C. Hind et al, Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial, Pilot Feasibility Stud., 2017, 3:16.
- H. Nishizawa et al,The effect of wearing nightsplintsfor one year on the standing motor function of patients with Duchenne muscular dystrophy, Phys. Ther. Sci., 2018, 30: 4, pp. 576-579.
- M. Toussaintet al, Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management, Rehabil., 2016, 38:20, pp. 2052-62.
- D. Brumbaugh et al, Nutritional and Gastrointestinal Management of the Patient With Duchenne Muscular Dystrophy, Pediatrics, 2018, 142: S53-S61.
- K. Kikuchi et al, Approaches to Cough Peak Flow Measurement With Duchenne Muscular Dystrophy, Care, 2018, 63: 12, pp.1514 -1519.
- SD. Apkon et al, Orthopedic and surgical management of the patient with Duchenne Muscular Dystrophy, Pediatrics, 2018, S82-S89.
- M.Thangarajh et al, Relationships between DMDmutations and neurodevelopment in dystrophinopathy , 2019, 22; 93 (17): e1597-e1604.
- M. Thangarajh et al, Neurodevelopmental Needs in Young Boys with Duchenne Muscular Dystrophy (DMD): Observations from the Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DNHS), PLoS Curr., 2018 17; 10.
- L. Parisi et al, Autism spectrum disorders in children affected by Duchenne muscular dystrophy. Minerva Pediatr., 2018, 70 (3): pp. 233-239.
- H. Fujino et al, Autism spectrum disorders are prevalent among patients with dystrophinopathies., Neurol Sci., 2018, 39 (7): pp. 1279-1282.
- Doorenweerd N, Mahfouz A, van Putten M, Kaliyaperumal R, T’ Hoen PAC, Hendriksen JGM, Aartsma-Rus AM, Verschuuren JJGM, Niks EH, Reinders MJT, Kan HE, Lelieveldt BPF, Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy, Sci Rep., 2017, 7 (1): pp. 12575.
- P. Colombo et al , Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample. J. Paediatr. Neurol., 2017, 21 (4): pp. 639-647.
- JG. Hendriksenet al, 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.
- V. Ricotti et al, Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations., Child Neurol., 2016, 58 (1): pp. 77-84.
- R. Banihani et al, Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. Child Neurol., 2015, 30 (11): pp. 1472-82.
- JG. Hendriksen, J.S. Vles, Neuropsychiatric disorders in males with Duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive–compulsive disorder., Child Neurol.2008, 23(5): pp. 477-481.
- JY. Wu, K.C. Kuban, E. Allred, F. Shapiro, B.T. Darras, Association of Duchenne muscular dystrophy with autism spectrum disorder, Child Neurol., 2005, 20 (10): pp. 790-795.