Becker muscular dystrophy

This is part of Rare diseases.

Diagnosis: Becker muscular dystrophy

Synonyms: BMD

Date of publication: 2013-06-25
Version: 1.1

The disease

Becker muscular dystrophy (BMD) 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 and men.

The condition was named after the geneticist Professor Peter Emil Becker of Göttingen, Germany, who was also educated in the fields of neurology and psychiatry. In the 1950s and 60s he demonstrated that this type of muscle dystrophy clinically and genetically constituted a distinct disorder.

Duchenne muscular dystrophy (DMD) is a similar but more severe condition, also caused by dystrophin deficiency. Both these disorders are caused by mutations in the dystrophin gene (DYS). Separate information on Duchenne muscular dystrophy is available in the Rare Disease Database of the Swedish National Board of Health and Welfare.


Each year approximately 3-5 boys or men are diagnosed with Becker muscular dystrophy. This incidence is higher than it used to be, as very many cases that were previously missed are now identified through dystrophin analysis. It is not known how many people in Sweden have Becker muscular dystrophy, but the prevalence is estimated at just over 2 per 100,000 population (4 per 100,000 males).


Becker muscle dystrophy is caused by a mutation in the DMD gene, which governs the production of (codes for) the protein dystrophin. The DMD gene, which is the largest known gene in the human genome, is located on the X chromosome (Xp21.2) A DYS mutation will result in significant dystrophin deficiency in muscle fibres, impairing their function.

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

It is still not fully known why dystrophin deficiency causes muscle dystrophy, but it is likely that this protein stabilises the muscle fibres. 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 Duchenne and Becker

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

Muscle fibres that lack normal dystrophin break down easily. In part, the breakdown of muscle tissue is compensated by the formation of new muscle fibres, but this process successively slows down, and the degenerated muscle fibres are replaced by connective tissue and fat.


Becker 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

A man with Becker muscular dystrophy will pass down the mutated X chromosome to all his daughters, who will be carriers of the mutation. The sons of a man with Becker muscular dystrophy do not inherit the mutation, as they inherit the Y chromosome and not the X chromosome.

Figure: X-linked recessive inheritance via a male carrier with the disease

The mother of a boy with Becker 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 Becker muscular dystrophy should therefore be offered prenatal diagnostics in each new pregnancy. The child’s new mutation will be hereditary and an adult with this mutation risks passing on the mutated gene to his/her children.

In Becker muscular dystrophy the most common mutation by far (80-95 per cent of cases) is a deletion comprising significant parts of the gene. A deleted dystrophin gene is also the most common cause of Duchenne muscular dystrophy, but not to the same extent as in Becker muscular dystrophy. Individuals with Becker muscular dystrophy retain some degree of dystrophin protein function, whereas it is completely lost in Duchenne muscular dystrophy. Apart from deletions, the disorder may also result from duplicated gene segments or from small abnormalities known as point mutations, although this is quite rare.

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


The symptoms of Becker muscular dystrophy are similar to those of Duchenne muscular dystrophy, but the condition is less severe, sometimes significantly so. In some cases, however, the symptoms may be severe enough to resemble Duchenne muscular dystrophy.

Boys with Becker muscular dystrophy remain asymptomatic during their first year of life. The age of onset varies considerably among individuals. In some cases, muscle weakness is noticeable after only a few years, while other individuals remain asymptomatic until adulthood.

Boys with Becker muscular dystrophy learn to walk later than normal, but the disorder is usually not suspected until years later, in half of all cases after the age of ten. Early symptoms include cramps or pain in the calves, difficulties in walking and running, toe walking, or falling easily.

Muscle weakness almost always presents in the legs, and both sides are affected (symptoms are symmetrical). Muscle groups affected at an early stage include the hip extensors and thigh musculature. Another early characteristic sign is enlarged calf muscles (pseudo-hypertrophy). Some individuals have problems with short Achilles tendons. Apart from the calf musculature, other muscle groups may also be affected by pseudo-hypertrophy. Muscles of the upper body and arms also weaken with increasing age. The shoulders, shoulder blades and upper arms are usually affected first.

Cardiac symptoms such as rapid heartbeat (tachycardia), ECG abnormalities, or non-specific heart murmur present over time in nearly three quarters of all cases. In over 50 per cent of all cases, heart contraction becomes impaired, and approximately one third develop heart enlargement. In the majority of cases, heart enlargement does not give rise to any symptoms, but in the long run the condition increases the risk of heart failure. Heart failure usually presents as increasing fatigue and breathlessness. If the condition is exacerbated, it may be life-threatening.

Most individuals with Becker muscular dystrophy do not have any respiratory tract symptoms, but weak respiratory musculature often affects breathing to some extent. Only rarely is muscle weakness pronounced, but when this is the case pulmonary function may also be affected. Impaired lung function often presents as troubled sleep, nightmares, morning headaches and fatigue during daytime. More pronounced cases are characterised by air hunger and impaired cough capacity, which in turn increases the risk of developing severe pneumonia.

A very small percentage of these boys may have impaired learning ability. Problems particularly concern language, but basic arithmetic skills may also be affected, which should be considered when planning entry to school. Some of these boys have behavioural problems (autism spectrum, ADHD-like symptoms, compulsive behaviour), or depression.


Muscle weakness progresses slowly, and approximately 80 per cent will retain their ability to walk. Many manage to have physically demanding jobs until they are in their 40s or 50s. Approximately 20 per cent will eventually require a wheelchair to ambulate, but the age at which this happens varies considerably, from 16 years up to over 80.

The risk of developing scoliosis is relatively small, but increases at the point when independent walking is no longer possible owing to muscle weakness. The degree of lung function is also associated with the severity of muscle weakness. Heart symptoms, however, may occur even if muscular symptoms are mild. Heart failure and respiratory failure may reduce life expectancy somewhat.


Becker muscular dystrophy is diagnosed relatively late in childhood, and usually not until adulthood. If Becker 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 Becker 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 reveal if there is dystrophin in the muscles and signs of muscle fibre degeneration. In Becker muscular dystrophy there is some dystrophin in the muscle fibres, but the amount is considerably lower than normal. It is usually also possible to detect muscle fibre degeneration and new formation of muscle fibres, as well as 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. In Becker muscular dystrophy, there is much less dystrophin than normal in the muscle fibres, but they retain their normal structure.

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 Becker muscular dystrophy, and nerve damage. As genetic analyses are increasingly used, however, neurophysiological testing has declined.


Although a great deal is known about the cause of Becker muscular dystrophy, there is still no treatment available that can 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 has proven effective in delaying the progression of muscle weakness, and may even increase muscle strength when treatment is initiated. Treatment results as well as adverse effects are dosage-related. Weight gain, irritability and behavioural changes, redistribution of body fat, acne, frail skin, increased body hair, nausea and abdominal problems are all side effects that may occur to varying extents. Cortisone also inhibits growth. Cortisone therapy has been most widely used in Duchenne muscular dystrophy, and many follow-up studies suggest that this treatment prolongs independent walking, protects the patient from heart and respiratory tract complications, and prevents the development of scoliosis.

Preserving bone health is important for all people, but is particularly significant for mobility-impaired individuals undergoing cortisone treatment. Walking and standing increase loading on the bone, which has a positive effect 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 muscle function is improved, 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 Becker muscular dystrophy does not seem to increase bone fragility or the risk of fractures in general, 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.

In childhood and adolescence, many individuals with Becker muscular dystrophy remain relatively free from symptoms. It may therefore be difficult to maintain motivation for treating motor organ symptoms, although this is important for preventing joint contractures. Night braces and foot joint stretches are treatments that should be initiated at an early stage. As the disease progresses muscle weakness may become more pronounced, causing greater problems. 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 major part of treatment consists of continuous stretching exercises performed to prevent contractures. Approximately 10 per cent also need to have their heel tendons surgically lengthened, which may significantly improve walking ability.

Using long leg splints (knee-ankle-foot orthoses) makes it possible to postpone wheelchair dependence, which, in turn, is beneficial for preventing scoliosis and contractures. 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. 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, and 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 and community workers will also assist 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. There is evidence that low-intensive exercise is not harmful and probably has positive effects on muscle function as well as on contracture prevention. 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).

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. In recent years heart transplantation has been performed on patients with cardiac insufficiency, with good results.

Recent research related to Duchenne muscular dystrophy also shows that early medical intervention using ACE inhibitors decreases the risk of developing heart failure. These results are also likely to be valid for Becker muscular dystrophy.

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 sometime after the individual has started using a wheelchair. Progressive scoliosis can be treated by 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 better sitting posture 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.

As pulmonary function may be impaired in Becker muscular dystrophy, it should be assessed. 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. Interventions that reduce the risk of respiratory tract infections include vaccines against whooping cough, pneumococcal disease and flu. Antibiotic treatment should be started promptly at first sign of pneumonia.

A cough assistance device is a respiratory aid that has come to be widely used in Sweden in recent years. 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.

When planning for school start, it is important to consider the child’s learning ability as well as physical limitations. In the majority of cases, boys with Becker muscular dystrophy have a normal ability to learn, but some may have problems and require individual support or special education. As boys with Becker muscular dystrophy are easily fatigued, learning is facilitated if breaks are frequent. 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 throughout childhood and adolescence. Even small children need their questions answered.

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.

Depending on the individual’s degree of disability, new work routines and individualized adaptations and aids may be necessary to help in daily life. Occupational therapists, physiotherapists, and assistive technology consultants provide and try out assistive devices. If required, the school, home, car and workplace can be adapted to individual needs. An occupational therapist can be contacted for assistance.

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 Becker muscular dystrophy and other muscle disorders.

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.

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.

Courses, exchanges of experience, recreation

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.

Ågrenska is a national competence centre for rare diseases and its families’ programme arranges stays for children and young people with rare diseases 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. Every year a number of adults with rare diseases also visits Ågrenska. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

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, email: info@riks.rbu.se, www.rbu.se.

RBU has representatives of families with children affected by muscular 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, Sweden. 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. 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.

Research and development

Research aiming to find a treatment for the dystrophinopathies, particularly Duchenne muscular dystrophy but also Becker muscular dystrophy, is ongoing worldwide. The work done so far can be roughly divided into seven categories of treatment: anti-inflammatory substances (such as cortisone), calpain/protease inhibitors, growth factors, up-regulation of dystrophin expression (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. Early-stage clinical trials are currently ongoing in several of these fields.

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 internet address to the Swedish registry is www.nmis.se. This website also includes forms of consent for those interested in joining the registry.

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.

The Ågrenska National Competence Centre for Rare Diseases has published a newsletter on Becker muscular dystrophy, nr 350 (2009). Newsletters are edited summaries of lectures delivered at family and adult visits to Ågrenska. Can be ordered from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 3191 19 79, email: agrenska@agrenska.se. The newsletter is also available at www.agrenska.se.

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.

Doktorn kunde inte riktigt laga mig (2007). Book (in Swedish) by Christina Renlund, published by Gothia, ISBN 978-91-7205-553-7.

Information from RBU (see under “Organizations for the disabled/patient associations”). Information on Becker muscular dystrophy is usually presented together with Duchenne muscular dystrophy: Barn & ungdomar med muskelsjukdomar (2007, in Swedish only).

Familjer med barn med muskelsjukdomar. Inflytande och medverkan i beslutsprocessen (2000, in Swedish only). Sanja Lärka Paulin/Inger Bernehäll Claesson/Jane Brodin, RBU/WRP International.

The Danish Neuromuscular Disease Association (Muskelsvindfonden) has a great deal of information in Danish. 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 Becker 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. They also publish news related to research and arrange seminars on Becker muscular dystrophy and other disorders.

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


American Academy of Pediatrics Section on Cardiology and Cardiac Surgery. Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics 2005; 116: 1569-1573.

Becker PE. Neue Ergebnisse der Genetik der Muskeldystrophien. Acta genetica et statistica medica 1957; 7: 303-310.

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L et al. Diagnosis and management of Duchenne muscular dystrophy, part I: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9: 77-93.

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010; 9: 177-189.

Finsterer J, Stollberger C, Blazek G, Kunafer M, Prager E. Cardiac involvement over 10 years in myotonic and Becker muscular dystrophy and mitochondrial disorder. Int J Cardiol 2007; 119: 176-184.

Grootenhuis MA, de Boone J, van der Kooi AJ. Living with muscular dystrophy: health related quality of life consequences for children and adults. Health Qual Life Outcomes 2007; 5: 31.

Mehler MF. Brain dystrophin, neurogenetics and mental retardation. Brain Res Rev 2000; 32: 277-307.

Romero NB, Braun S, Benveniste O, Leturcq F, Hogrel JY, Morris GE et al. Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy. Hum Gene Ther 2004; 15: 1065-1076.

Tuffery-Giraud S, Saquet C, Thorel D, Disset A, Rivier F, Malcolm S et al. Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. Eur J Hum Genet 2005; 13: 1254-1260.

Database references

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

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

Register for Neuromuscular Disorders in Sweden (NMiS), www.nmis.se.

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: 1.1
Publication date 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.