CONDITIONS
Muscular dystrophy
Muscular dystrophy (MD) is a group of rare hereditary muscle diseases that cause progressive weakness and loss of muscle mass. The overall prevalence of MD is estimated to be about 1 in 3500 or 0.029%.
There are many kinds of muscular dystrophy, with the most common one occurring in childhood mostly in boys while the symptoms of other types not surfacing until adulthood.
What are the types of Muscular dystrophy?
- Duchenne MD – one of the most common and severe forms, affecting boys in early childhood; people with the condition will usually only live into their 20s or 30s
- Myotonic dystrophy – a type of MD that can develop at any age
- Facioscapulohumeral MD – can develop in childhood or adulthood, progresses slowly and isn’t usually life-threatening
- Becker MD – closely related to Duchenne MD, but it develops later in childhood and is less severe; life expectancy is not affected much
- Other forms are
- Limb-girdle MD – group of conditions usually developing in late childhood or early adulthood
- Oculopharyngeal MD – develops in a person between 50 and 60 years old, and doesn’t tend to affect life expectancy
Emery-Dreifuss MD –develops in childhood or early adulthood; most people with this condition will live until at least middle age
What are the symptoms of Muscular dystrophy?
Progressive muscle weakness is the main symptom with specific signs and symptoms being different with various types of MD.
Signs and symptoms in Duchenne type muscular dystrophy:
- Frequent falls
- Difficulty rising from a lying or sitting position
- Trouble running and jumping
- Walking clumsily
- Walking on the toes
- Large calf muscles
- Muscle pain and stiffness
- Learning disabilities
- Delayed growth
What are the causes of Muscular dystrophy?
Changes (mutations) in the genes responsible for the structure and functioning of a person’s muscles cause MD. The mutations result in changes in the muscle fibres that interfere with the muscles’ ability to function, and this increases the disability as times passes.
Risk factors of MD:
For the most common type of MD (Duchenne type), people with a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children.
How is Muscular dystrophy diagnosed?
Multiple methods are used to diagnose the various types of MD, the age at which diagnosis occurs depending on the time when symptom first appears. Following tests maybe suggested by the doctor post assessing the medical history and getting a physical exam done.
- Enzyme testing where high blood levels of certain enzymes like creatine kinase (CK) are released in the blood due to damage to muscles.
- Genetic testing – to test the blood for mutations in some of the genes that cause some types of muscular dystrophy.
- Muscle biopsy – to differentiate muscular dystrophies from other muscle diseases, a small piece of muscle is removed through an incision or with a hollow needle and analysed.
- Heart-monitoring tests (electrocardiography and echocardiogram) – for checking heart function, especially in people diagnosed with myotonic muscular dystrophy.
- Lung-monitoring tests – to check for proper lung functioning
- Electromyography (EMG) – to confirm the presence of muscle disease by studying the measured electrical activity. This is done by inserting an electrode needle into the muscle to be tested
What are the treatment options for Muscular dystrophy?
Currently, there is nothing that could cure MD, but a range of treatments helps in managing the physical disabilities and problems that may develop with the disease. These can include:
- Medications – such as steroids to improve muscle strength and delay the progression of certain types of muscular dystrophy, or heart medicines such as ACE inhibitors and beta blockers if a type of MD causes heart damage.
- Surgery – to correct postural deformities, such as a spinal curvature that could eventually make breathing more difficult or installing a pacemaker or cardiac device that could improve heart function.
- Therapies –
- Range-of-motion and stretching exercises – to help to keep joints as flexible as possible.
- Exercises – Low-impact aerobic exercise, such as walking and swimming, to maintain strength, mobility and general health or strengthening exercises of the muscle may also help. These are done under the supervision of the doctor.
- Mobility assistance – including physical aids such as canes, walkers and wheelchairs may help in independence.
- Support groups – to deal with the practical and emotional impact of MD
Are there any support groups present in India?
The Indian government has taken several initiatives to support individuals affected by muscular dystrophy. Following are the names of few groups:
- The Indian Association of Muscular Dystrophy (IAMD) provide relief and rehabilitation to people afflicted with MD in India.
- The Muscular Dystrophy Family Foundation (MDFF) provides support and services, including financial assistance, to families affected by muscular dystrophy, ALS, and other neuromuscular diseases.
- The Muscular Dystrophy Foundation India is working towards bringing awareness and support to individuals affected by muscular dystrophy.
Other non-governmental organizations, non-profit organizations for support of MD are:
- Muscular Dystrophy Foundation India
- The Neuromuscular Awaaz Support Group – community-based support group for individuals affected by muscle-wasting conditions, including muscular dystrophy, across the UK and India.
References
- Rare Diseases Reviews (RDR) at Rare Diseases India (RDI), of Foundation for Research on Rare Diseases and Disorders. May 2024. https://www.rarediseasesindia.org/learnraredis/musculardystrophy
- Muscular dystrophy. Mayo Clinic. May https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/diagnosis-treatment/drc-20375394
- Muscular dystrophy. MHS UK. May 2024. https://www.nhs.uk/conditions/muscular-dystrophy/
