Duchenne muscular dystrophy

This is part of Rare diseases.

Diagnosis: Duchenne muscular dystrophy

Synonyms: DMD

Date of publication: 2013-06-25
Version: 1.3

The disease

Duchenne muscular dystrophy (DMD) belongs to a group of disorders known as dystrophinopathies, caused by deficiency or impaired function of the protein dystrophin. The disorder is characterised by progressive muscle weakness, and usually only affects boys or men.

Duchenne muscular dystrophy was named after the French neurologist Guillaume Duchenne. He was the first to describe the characteristic features of the disorder and he published his observations in the 1860s.

Becker muscular dystrophy (BMD) is a similar but milder condition, also caused by impaired dystrophin function. Both these disorders result from mutations in the dystrophin gene (DYS). Separate information on Becker muscular dystrophy is available in the Rare Disease Database of the Swedish National Board of Health and Welfare.


Each year approximately 10 boys in Sweden are diagnosed with Becker muscular dystrophy. It is not known how many people have Duchenne muscular dystrophy, but the prevalence is estimated at approximately 3 per 100,000 population (6 per 100,000 males).


Duchenne muscle dystrophy is caused by a mutation in the DMD gene, which governs the production of (codes for) the protein dystrophin. The DYS gene is located on the X chromosome (Xp21.2) and is the largest known gene in the human genome.

Dystrophin is normally present in the skeletal musculature, heart musculature, smooth muscle cells and, to a lesser extent, in the central nervous system. This distribution of dystrophin explains why Duchenne muscular dystrophy is not only associated with skeletal muscle symptoms, but also cardiac, gastro-intestinal and central nervous system symptoms.

It is still not fully known why dystrophin deficiency causes muscular dystrophy, but there is much to suggest that this protein stabilises the muscle fibre. When a muscle fibre contracts, thereby contracting the muscle, certain proteins in the muscle fibre slide into each other, a process which consumes energy. For the sliding movements to result in muscle contraction, the contractile proteins must be anchored to the muscle fibre membrane. Dystrophin is located just inside this membrane, where it is part of the protein complex DAPC (dystrophin associated protein complex). This complex anchors the contractile units of the muscle fibre to the cell membrane and adjacent muscle fibres (extracellular matrix) via other protein complexes.

Figure: Muscle cell localisation of proteins in the dystrophin-associated glycoprotein complex that underlie Duchennes and Becke

Figure: Muscle cell localisation of proteins in the dystrophin-associated glycoprotein complex that underlie Duchennes and Becker muscle dystrophies as well as limb-girdle muscular dystrophies.

Muscle fibres without normal dystrophin break down easily. In the first few years, the breakdown of muscle tissue is partly compensated for by the formation of new muscle fibres, but this process successively slows down, and degenerated muscle fibres are replaced by connective tissue and fat.


Duchenne muscular dystrophy is caused by a mutated gene located on the X chromosome, which is one of the chromosomes determining sex. Men have one X chromosome and one Y chromosome, while women have two X chromosomes. Inherited X-linked recessive disorders usually occur only in men, being passed down via a healthy female carrier who has one normal and one mutated gene. Sons of female carriers of a mutated gene run a 50 per cent risk of inheriting the disease and daughters run the same risk of being healthy carriers of a mutated gene. A man with an inherited X-linked recessive disease can not pass it on to his sons, but all his daughters will be carriers of the mutated gene.

Figure: X-linked recessive inheritance via a healthy female carrier

The mother of a boy with Duchenne muscular dystrophy is not always a carrier. Approximately one third of all cases occur as new mutations, where the mutation arises for the first time in an individual, and is not inherited. Consequently, parents with a child with a new mutation generally do not have an increased risk of having another child with the disorder. In 15-20 per cent the mother has several cells with the mutation, but only in her ovaries. This is known as germinal mosaicism, and is associated with an increased risk of recurrence. All parents of a child with Duchenne muscular dystrophy should therefore be offered prenatal diagnostics in each new pregnancy. However, the new genetic mutation will be hereditary and an adult with this mutation risks passing on the mutated gene to his/her children.

In Duchenne muscular dystrophy the most common mutation (60-70 per cent of cases) is a deletion comprising significant parts of the gene. A deleted dystrophin gene is also the most common cause of Becker muscular dystrophy. In Duchenne muscular dystrophy the deletion usually causes complete loss of protein function, whereas in Becker muscular dystrophy some degree of protein function is retained. Apart from deletions, the disorder may also result from duplicated gene segments (5-10 per cent of cases), or from small abnormalities known as point mutations (25-35 per cent of all cases).

In very rare cases girls may be affected by Duchenne muscular dystrophy. These cases result from a combination of a dystrophin gene mutation and an inactivated X chromosome. However, in girls with muscular dystrophy other diagnoses should normally be considered.


Most boys with Duchenne muscular dystrophy remain asymptomatic during their first year of life. Only rarely does the disorder manifest in newborns, in which case it presents as muscle weakness that may cause difficulties in moving, sucking and breathing.

Boys with Duchenne muscular dystrophy learn to walk somewhat later than normal (the average delay is 5 months). This delay rarely raises suspicion of Duchenne muscular dystrophy. By the age of three, the symptoms are generally more apparent, as these boys have a waddling gait and difficulties in running, jumping, and rising to stand. Other symptoms, apart from muscle weakness, include muscle cramping and stiffness.

Muscle groups affected by weakness at an early stage include the shoulder girdle, the pelvic girdle and muscles of the back. The upper arms and thighs are affected at an earlier stage of the disease than the lower arms and legs. The weakness is symmetrical. One distinct symptom is that these boys have problems in getting up from the floor, as the muscles used to stretch the knees and hips are weakened. To compensate they often use their arms when attempting to get up, letting their hands climb up their thighs to facilitate stretching of the hips (Gowers maneuver).

Another early, characteristic sign is enlarged calf muscles (pseudo-hypertrophy). Lordosis, pronounced inward curvature of the spine in the lumbar region, also develops at an early stage, as the weakened pelvic musculature fails to keep the pelvis upright. The pelvis will tip slightly forward, which the body compensates for by increasing the arch of the lower back. A weak shoulder girdle may present in the child as difficulties in using the upper arms, or as protruding shoulder blades (winged scapula).

The progression of muscle weakness varies among individuals, ranging from severe impediment to normal function. It is often experienced as progressing in stages. At the same time muscle stiffness increases, especially in the calves. Difficulties in flexing the ankles may lead to toe walking and difficulties in walking, especially up stairs. Toe walking is also a way of maintaining balance if there is an inward curvature of the spine.

The disease may also cause gastrointestinal symptoms, difficulties in swallowing, reflux, vomiting and bad breath. These symptoms are caused by dystrophin deficiency in the smooth muscle cells of the gastrointestinal tract. Constipation is the most common symptom, often presenting by the time these boys start using a wheelchair for ambulation. Most likely one of the main causes is decreased mobility.

In 80 per cent of cases the heart is affected, but the condition may be asymptomatic. The most common symptom is a faster heart beat than normal, which may also be irregular. An examination will often reveal non-specific heart murmur. The most common heart complication is cardiomyopathy, in which the heart is weakened, impairing its ability to pump the blood, which in turn may enlarge the heart and, in severe cases, lead to heart failure. Arrhythmia, although rare, may present at any time during the course of the disease, while cardiomyopathy rarely presents before the age of ten.

Boys with Duchenne muscular dystrophy often, but not always, have impaired learning ability. Language skills are particularly affected, which should be considered when planning entry to school. Muscle weakness may cause nasal speech. Intellectual disability may occur. Some of these boys have behavioural problems (within the autism spectrum, ADHD-like symptoms, compulsive behaviour), or depression.

Young people and adults

By the time muscle weakness becomes more pronounced, these boys will require a wheelchair for ambulation. Age varies, but in most cases this happens between the ages of 10- 12, or later if cortisone therapy was initiated early. Help may also be needed in transferring from bed to chair, turning over in bed at night, and in carrying out daily life activities such as dressing or washing. Other symptoms also tend to arise at this stage.

At a relatively early stage, long before a wheelchair is required, the Achilles tendons tighten, which may lead to persistent involuntary muscle contractions. As a consequence the muscles may become shortened (contractures), which may cause abnormal rotation of the ankle, a condition known as equinovarus. Later, often after these boys have started using a wheelchair, the risk of developing other contractures increases, especially in the joints of the elbows, knees and hips. With time, the range of motion of the shoulder joints, the wrists and the neck also decreases.

Scoliosis may develop relatively soon after the boys have started using a wheelchair, but not in all boys, especially if cortisone therapy has been initiated early. Some boys develop a marked inward curvature of the spine, while in a very few cases the spine may remain relatively normal. Scoliosis is a serious complication that may make sitting difficult and impairs breathing function. The development of scoliosis can to a certain extent be slowed by using a specially designed medical corset, and by walking for as long as possible. Cortisone treatment has proven effective in significantly reducing the risk of developing scoliosis.

Over 50 per cent of boys with Duchenne muscular dystrophy over the age of twelve have cardiomyopathy. Symptoms include poor general health, breathlessness, fatigue or swellings caused by fluid retention, for example in the feet. Progressive cardiomyopathy may lead to heart failure, which is a life-threatening condition. In its early phases, however, cardiomyopathy may be asymptomatic. The development of cardiomyopathy can be prevented to a great extent with medical treatment.

As Duchenne muscular dystrophy also affects the respiratory musculature, pulmonary function may be impaired. This condition often presents as troubled sleep, nightmares, morning headaches and fatigue during daytime. Other signs of impaired lung function include loss of appetite and decreased well-being. These symptoms may go unnoticed, and the association with respiratory problems may not be understood. More pronounced cases are characterised by air hunger and impaired cough capacity, which increases the risk of developing pneumonia. The capacity to maintain the right concentrations of oxygen and carbon dioxide in the bloodstream is not affected until the lungs are severely impaired.

Pneumonia, respiratory failure, and heart failure are the most common causes of death in Duchenne muscular dystrophy. In older literature average life expectancy was given as 18 years. The current number is unknown, but life expectancy increases successively and an increasing number of men with the disease are now over 40. Respiratory aids are the main explanation why the prognosis has improved. Other significant factors most likely include scoliosis surgery and early and more intensive treatment of upper respiratory tract infections. It is still too early to determine whether the increasing use of cortisone will improve the long-term prognosis.


If Duchenne muscular dystrophy is suspected on the basis of symptoms and clinical examinations, a blood test is usually taken to detect enzyme leakage into the bloodstream. For diagnostic purposes, the most important muscle enzyme is creatine kinase (CK). CK concentration is greatly elevated in Duchenne muscular dystrophy, but high CK levels may also be associated with other muscular disorders.

The diagnosis can be confirmed by DNA analysis. At the time of diagnosis, the family should be offered genetic counselling. Carrier and prenatal diagnostics, as well as pre-implantation genetic diagnostics (PGD) in association with IVF (in vitro fertilization), are available in families where the mutation is known.

Microscopic analysis of a small muscle sample (muscle biopsy), will detect dystrophin in the muscles or signs of muscle fibre degeneration. In Duchenne muscular dystrophy dystrophin is completely, or almost completely, absent. It is usually also possible to detect signs of degeneration as well as development of new muscle fibres, and increased presence of connective tissue and fat.

Biochemical analysis of the muscle biopsy can be performed to check for dystrophin deficiency or to identify any structural abnormalities in this protein. Lack of dystrophin in a muscle biopsy indicates that the dystrophin gene is mutated and the diagnosis Duchenne Muscular Dystrophy can be established. Even if the diagnosis has been confirmed in a muscle biopsy, dystrophin gene analysis should be carried out.

Until recently it was common to perform neurophysiological examinations (electromyography and nerve conduction velocity tests) in order to differentiate between impaired muscle function, as in Duchenne muscular dystrophy, and nerve damage. As genetic analyses are increasingly used, however, neurophysiological tests are needed less often.


Despite the fact that a great deal is known about the cause of Duchenne muscular dystrophy, there is still no treatment available that could cure the disease. Treatment therefore focuses on alleviating symptoms and compensating for functional impairments. As well as contact with different specialists, including a neurologist/paediatric neurologist, an orthopaedic surgeon, and a cardiologist, the family may also require contact with a habilitation team. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development.

Cortisone therapy improves muscle strength and function, and prolongs independent walking for up to three years, possibly even longer. Cortisone is currently the only medication with established positive treatment results. Treatment results as well as adverse effects are dosage-related. Side effects, varying among patients, include weight gain, poor growth, irritability and behavioural changes, redistribution of body fat, acne, frail skin, increased body hair, cataracts, nausea and gastritis.

Research has established the positive effects of cortisone on muscle function. Long-term follow-up studies of this treatment have shown prolonged independent walking, slower development of scoliosis, maintained breathing function, and possibly also protection against cardiomyopathy. Individuals undergoing cortisone therapy should always be carefully monitored to evaluate treatment results and adverse effects.

Bone health is important for all people, but is particularly significant for movement-impaired individuals undergoing cortisone treatment. Walking and standing increase loading on the bone, which has positive effects on bone density, while inactivity causes brittle bones. Although cortisone treatment is a known risk factor for brittle bones, the benefits outweigh this effect as this medication improves muscle function, thereby enabling standing and walking. It is important to get enough calcium and vitamin D. In most people calcium intake is sufficient while the intake of vitamin D is too low.

Although cortisone therapy in Duchenne muscular dystrophy does not seem to increase bone fragility or the general risk of fractures, it does increase the risk of vertebral compression fractures. If there is a great deal of pain, which may particularly be the case if there are several fractures, bisphosphonate treatment has beneficial effects, particularly on pain, but also on bone healing.

Treatment of motor organ symptoms is carried out in cooperation between a paediatric habilitation physician, a physiotherapist, an occupational therapist, an orthopaedic surgeon and an orthopaedic engineer. A very important part of treatment, usually carried out by the habilitation team physiotherapist, is to prevent contractures (reduced joint mobility), which often develop as a consequence of muscle weakness. Early interventions for preventing contractures include foot stretches, in most cases combined with night braces. Other joints may also be at risk and should also be stretched.

If contractures do develop, tendon release surgery will effectively restore joint mobility. Elongation of the Achilles tendon is the most common operation, and may be very beneficial for maintaining independent walking. At a later stage of the disease, knee and hip flexor tendons often undergo surgical intervention.

A wheelchair, whether manual or electric, is a mobility aid that saves energy and increases independence for the individual. It is therefore important to start using a wheelchair as soon as muscle weakness develops, even if walking ability is retained. By using long-leg splits (knee-ankle-foot orthoses), it is possible to postpone wheelchair dependence. This in turn is beneficial for preventing scoliosis and contractures. Even long after wheelchair usage has been initiated, other mobility aids may make it possible to stand and walk short distances. Standing ability can also be retained by using a standing frame, a tipping board, or some types of electric wheelchairs.

Occupational therapists, physiotherapists, and mobility aid consultants all assist in the process of trying out and adjusting a wheelchair and other types of aids. An occupational therapist will also cooperate with community workers in adapting accommodation to suit the needs of the individual.

The value of physical therapy in building muscle strength and endurance is poorly documented and a much-debated issue. Low-intensive exercise has been shown not to be harmful and probably has positive effects on muscle function as well as on preventing contractures. Strength training and high-intensive exercise associated with considerable exertion should be avoided, as there is a risk that the disorder will progress more rapidly. Examples of suitable activities include pool training and swimming (back stroke).

There are various ways of treating gastrointestinal problems. Constipation can be treated with lactulose, which regulates the bowels. Enemas may also be necessary. Overweight and underweight are both relatively common, especially in wheelchair users. Regular contact with a dietician may be helpful. Eating and swallowing problems are assessed and treated by a specialist team (dysphagia and nutrition teams), or by the habilitation team. As a consequence of difficulties in swallowing it may eventually be necessary to administer nutrition or supplements via PEG (percutaneous endoscopic gastrostomy). In PEG, a surgical procedure creates a direct connection between the abdominal wall and the stomach.

As cardiomyopathy will often present during the teen years, it is important to monitor heart function as soon as the diagnosis is established and then regularly, approximately once a year, after the age of eight.

Early treatment (at the age of ten) with ACE inhibitors or beta blockers has proven effective in decreasing the risk of developing heart failure.

Signs of cardiac insufficiency, for example in the form of breathlessness, fatigue, and swollen feet and lower legs, can be treated with diuretics and heart-stimulating drugs.

Apart from retaining walking ability for as long as possible, thereby postponing wheelchair dependence, a specially designed medical corset can be used to stabilise the spine and slow the development of scoliosis. In most cases corset treatment is initiated some time after the person has started using a wheelchair. Progressive scoliosis can be treated by performing orthopaedic surgery in which the spine is straightened with the aid of metal devices. The operation is extensive, but in most cases it will lead to a better sitting position and improve quality of life. It is important to consider surgery at an early stage, as there is a risk that impaired cardiac and pulmonary function may render it impossible later on.

Pulmonary function should be evaluated on a regular basis. Interventions that reduce the risk of respiratory tract infections include vaccines against whooping cough, pneumococcal disease and flu. Antibiotic treatment should be initiated promptly if there is any sign of pneumonia. If there are any signs of impaired lung function, a pulmonary function test should be carried out. If the test shows that the lungs do not function properly, a ventilator with a facial mask used at home during sleep may be very helpful. If pulmonary function deteriorates further, respirator use on a more permanent basis may be considered. This should be discussed in good time with the affected individual and his family. In recent years a respiratory aid known as a cough assist device has become increasingly used in Sweden. After a few assisted inhalations it draws up mucous, which may be very helpful for individuals affected by lower respiratory tract infection, and whose cough capacity is reduced.

Regular dental check-ups are important, as muscle weakness makes it more difficult to brush the teeth, thereby increasing the risk of caries. Additional preventive dental care is also required. It is recommended that the dental hygienist cooperate with an occupational therapist. It is important to remember that individuals with cardiac or respiratory problems may not tolerate a reclining position in the dental chair.

When planning ahead before the child begins school, it is important to consider the child’s learning ability as well as physical limitations. An evaluation should be carried out before the child reaches school age, and may need to be repeated at a later stage. The school must also be informed well before the child starts, to have the chance to create the best possible conditions for the boy. Some boys may benefit from additional support or special education. As boys with Duchenne muscular dystrophy are easily fatigued, learning is facilitated with frequent breaks. A personal computer may also be useful if the arms and hands weaken.

A habilitation team offers support and treatment within the medical, educational, psychological, social and technical fields. Help includes assessment, treatment, the provision of aids, information on the specific disability, and counselling. It also includes information on all available support offered in the community, as well as advice on adjustments to the home environment and other places where the child spends time. The family may also need help in coordinating different measures.

Habilitation is planned on the basis of the child’s special needs and problems. Habilitation varies over time but always takes place in collaboration with those close to the child or young person.

Psychological support adapted to age and maturity should be available continuously while the child is growing up. Even small children need their questions answered. Parents and siblings should also be offered support from a counsellor or psychologist. If parents wish, they should also be offered the opportunity to be in contact with other families in a similar situation with whom they can share their experiences. Questions commonly concern depression or behavioural abnormalities. Medical treatment or consultation with a paediatric psychiatrist or psychiatrist may be required if these symptoms are pronounced.

The local authority can offer different forms of support to facilitate the family’s everyday life. Respite care can, for example, take the form of a contact family or short-term accommodation outside the home. Special assistance can help a child/young person with disabilities lead an active life.

Young people and adults

Boys in their late teens and adults require continued medical follow-up and support from an adult habilitation team or similar.

As the need for assistance in activities of daily life is sometimes considerable, specially adapted housing with personal assistance may be one of several viable options.

Practical advice


National and regional resources in Sweden

Paediatric neurology units at Swedish university hospitals have special muscle teams for evaluating and treating children with Duchenne muscular dystrophy and other muscle disorders. These teams comply with a Scandinavian health care programme for boys with Duchenne muscular dystrophy.

Muscle teams for children and adolescents

The Muscle Team, Paediatric Community Habilitation Service in Central Östergötland, Torkelbergsgatan 14 D, SE-582 25 Linköping, Sweden. Tel: +46 10 103 70 07.

The Muscle Team, Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

The Muscle Team, Neuropaediatric Unit, Astrid Lindgren Children’s Hospital, SE-171 76 Stockholm, Sweden. Tel: +46 8 517 774 67.

The Muscle Team, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Tel: +46 18 611 30 00.

REMUS, the regional muscle team of the Skåne region paediatric habilitation services. Contact via the local habilitation services.

Muscle teams for adults

Neuromuscular Centre, Sahlgrenska University Hospital/Mölndal, SE-431 80 Mölndal, Sweden. Tel: +46 31 343 21 85.

Neurology Clinic, Karolinska University Hospital, Solna, SE-171 77 Stockholm, Sweden. Tel: +46 8 517 700 10, and Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 800 00.

Neuromuscular Unit, Linköping University Hospital, SE-581 85 Linköping, Sweden. Tel: +46 10 103 00 00.

Muscle Centre, Örebro University Hospital, SE-701 85 Örebro, Sweden. Tel: +46 19 602 10 00.

Expertise in orofacial problems can be found at Mun-H-Center, Institute of Odontology
Gothenburg, Medicinaregatan 12A, SE-413 90 Gothenburg, Sweden. Tel: +46 31 750 92 00, fax: +46 31 750 92 01, email: mun-h-center@vgregion.se, www.mun-h-center.se.

Resource personnel

Children and young people

Chief physician Eva Kimber, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Tel: +46 18 611 00 00.

Chief physician Lars Palm, Paediatric Centre, Skåne University Hospital, SE-205 02 Malmö, Sweden. Tel: +46 40 33 10 00.

Chief physician Lars Palmér, The Children’s Clinic, Norrland University Hospital, SE-901 85 Umeå, Sweden. Tel: +46 90 785 00 00.

Professor Thomas Sejersen, Neuropaediatric Unit, Astrid Lindgren Children’s Hospital, SE-171 76 Stockholm, Sweden. Tel: +46 8 517 777 00.

Professor Már Tulinius, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

Chief physician Anne-Berit Ekström, The Regional Paediatric Habilitation Centre, SE-418 04 Gothenburg, Sweden. Tel: +46 31 502 770.


Chief physician Tomas Börsbo, University Clinic of Rehabilitation Medicine, Danderyd Hospital AB, SE-182 88 Stockholm, Sweden. Tel: +46 8 655 00 00.

Associate Professor Christopher Lindberg, Neuromuscular Centre, Sahlgrenska University Hospital/Mölndal, SE-413 45 Gothenburg, Sweden. Tel: +46 31 342 10 00.

Chief physician Björn Lindvall, Muscle Centre, Örebro University Hospital, SE-701 85 Örebro, Sweden. Tel: +46 19 602 10 00. Email: bjorn.lindvall@orebroll.se.

Associate Professor Göran Solders, Neurology Clinic, Karolinska University Hospital, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 800 00.

Chief physician Jan Weinberg, Neurology Clinic, Karolinska University Hospital, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 800 00.

Courses, exchanges of experience, recreation

Ågrenska is a national competence centre for rare diseases and its families’ programme arranges stays for children and young people with disabilities and their families. Ågrenska is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. A number of programmes is also provided every year for adults with rare diseases. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

RBU (see under “Organizations for the disabled/patient associations”) arranges yearly summer camps for young people and parent education programmes. Some summers they also arrange family weeks for children with muscular disorders and their families.

Organizations for the disabled/patient associations etc.

RBU, The Swedish National Association for Disabled Children and Young People, St Eriksgatan 44, Box 8026, SE-104 20 Stockholm, Sweden. Tel: +46 8 677 73 00, fax: +46 8 677 73 09, email: info@riks.rbu.se, www.rbu.se. RBU has a work group for muscle disorders. Contact is mediated via RBU. The RBU website has information on muscular disorders: www.rbu.se. There is also a leaflet on muscular disorders, which is available for free from the association.

NHR, The Swedish Association for Persons with Neurological Disabilities, St Eriksgatan 44, Stockholm. Mailing address: Box 49084, SE-100 28 Stockholm, Sweden. Tel: +46 8 677 70 10, fax: +46 8 24 13 15, email: nhr@nhr.se, www.nhr.se. NHR has a reference group for muscle disorders.

Courses, exchanges of experience for personnel

During the Ågrenska Family Program weeks, training days are organized for personnel working with the children and young people who are participating in the program. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

RBU (see address under “Organizations for the disabled/patient associations”) organizes education days for relevant personnel groups.

Research and Development

A great deal of research aiming to find a treatment for the dystrophinopathies, particularly Duchenne muscular dystrophy, is ongoing worldwide. The work done so far can be roughly divided into seven treatment categories: anti-inflammatory substances (such as cortisone), calpain/protease inhibitors, growth factors, up-regulation of dystrophin expression (Ataluren/PTC124), gene therapy, dystrophin gene correction (such as “exon skipping”, in which the defective building blocks of dystrophin are removed), and, finally, stem cell therapy (for example mesoangioblast stem cells). A number of these therapies are currently undergoing clinical trials, and Swedish centres participate in several of them.

Internationally, clinical studies are carried out with the aim of evaluating cortisone therapy, focusing particularly on its long-term effects, when to initiate treatment, dosage and type of cortisone.

TREAT-NMD is a network for muscular disorders that includes physicians, researchers, patient organizations, and private companies, in Sweden and internationally. The purpose of the network is to improve treatment and find a cure, for example for Duchenne Muscular Dystrophy: www.treat-nmd.eu. An important part of this work is the creation of an international patient registry. In Sweden, a patient registry has recently been set up that links de-identified data to the international registry for Duchenne and Becker Muscular dystrophies. It is hoped that this registry will be useful for facilitating the recruitment of patients to clinical trials. The address to the Swedish registry is www.nmis.se. This website also includes forms of consent for those interested in joining the registry.

Apart from the seven categories mentioned above, several studies are ongoing to find new treatment options. An active network that promotes new research is The Cooperative International Clinical Neuromuscular Research Group (CINRG), of which Sweden is also a collaborative partner. The aim of the network is to carry out basic research that can lead to the development of new medical treatments for Duchenne muscular dystrophy.

Information material

Short summaries of all the information texts in the Rare Disease Database of the National Board of Health and Welfare are available as leaflets, in Swedish only. They can be printed out or ordered by selecting the Swedish version of each text, and then clicking on the leaflet icon which will appear under “Mer hos oss” in the column on the right-hand side.

Newsletter from Ågrenska on Duchenne muscular dystrophy, nr 454 (2014). Newsletters are edited summaries of lectures delivered at family and adult visits to Ågrenska. They can be ordered from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se. Information is available on www.agrenska.se.

The diagnosis and management of Duchenne muscular dystrophy. A guide for families (2010). A user-friendly version of a publication in Lancet Neurology that summarises the guidelines for diagnosing and treating Duchenne muscular dystrophy: www.treat-nmd.eu/care/dmd/family-guide.

Duchennes muskeldystrofi - Scandinavian State Of The Art (SOTA) document (2007), reference program for diagnostics and treatment: http://nmisse.files.wordpress.com/2012/04/sota_dmd.pdf.

Jag har en sjukdom men jag är inte sjuk (2004). Book (in Swedish) published by Save the Children, ISBN 91-7321-121-4, also available on CD. Order from Save the Children: www.rb.se.

Dyrbar tid (2000). A book (in Swedish) about Stefan, nine years old, who has Duchennes muscular dystrofi. IBSN 91-630; -8083-4. May be ordered from NHR (see address under the heading “Organizations for the disabled/patient associations”).

Doktorn kunde inte riktigt laga mig (2007). A book (in Swedish) by Christina Renlund on small children, disease and disability. Published by Gothia, ISBN 978-91-7205-553-7.

The Danish Neuromuscular Disease Association (Muskelsvindfonden) has a great deal of information in Danish, for example on education, leisure activities, orthopaedic treatment and impaired lung function. They also have a video (Danish or English) on cough capacity and pneumonia. A list is available from Muskelsvindfonden, Kongsvang Allé 23, 8000 Århus C, Denmark. Email: reception@muskelsvindfonden.dk, www.muskelsvindfonden.dk.

The American Muscular Dystrophy Association coordinates and disseminates information on neuromuscular disorders. Information in English on Duchenne muscular dystrophy and other disorders is available at www.mdausa.org.

The Foundation for Research on Muscular Dystrophies (SMDF) collects money for funding research on muscular dystrophy and regularly publishes news related to research and seminars on Duchenne muscular dystrophy, www.smdf.se.

TREAT-NMD is an international network for muscular disorders that focuses on the diagnosis and treatment of Duchenne muscular dystrophy and spinal muscular atrophy: www.treat-nmd.eu.


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Database references

OMIM (Online Medelian Inheritance in Man)
Search: duchenne muscular dystrophy

GeneReviews (University of Washington)
www.genetests.org (select “GeneReviews”, then “Titles”)
Search: dystrophinopathies

Register for Neuromuscular diseases in Sweden (NMiS): www.nmis.se.

Orphanet, European database
Search: Duchenne muscular dystrophy

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Professor Thomas Sejersen, Astrid Lindgren Children’s Hospital, Sweden.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Publication date: 2013-06-25
Version: 1.3
Publication dare of the Swedish version: 2012-09-25

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se


About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.