Duchenne Muscular Dystrophy
- Duchenne muscular dystrophy (DMD) is a genetic disease associated with severe, progressive, muscle weakness that worsens with time.
- DMD primarily affects boys, whereas it can affect women in rare cases.
- DMD symptoms include progressive musculoskeletal and cardiac muscle weakening and atrophy.
- Early symptoms may include difficulty running, climbing stairs, and walking, as well as intellectual or learning disability.
- DMD is induced by a faulty gene dystrophin (a protein in the muscle cells). DMD is inherited in an X-linked recessive pattern and can appear in people with no family history of the disease.
- DMD is diagnosed based on symptoms, clinical examination, and biopsy. The results of genetic testing may also help in the confirmation of the diagnosis.
Symptoms of Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a disorder that affects the skeletal muscles in the body. The early symptoms are:
- Delayed walking
- Difficulty while jogging, climbing stairs and getting up.
- Shortness of breath
- Pseudohypertrophy of calf muscles.
- The poor balance increases the likelihood of falling.
- Walking on the toes is a result of tightness in the tendons of the leg and foot.
- Muscle degeneration in Duchenne is not associated with discomfort, although muscle rigidity and cramping can be painful.
- As a result of muscle weakness in the legs, children with Duchenne commonly use the Gower manoeuvre to stand from the floor.
- Individuals may push off the floor with their hands and then 'walk' their hands up their legs.
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Get A Second OpinionCauses of Duchenne Muscular Dystrophy
- Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by a defective gene called dystrophin, which is responsible for producing a muscular protein.
- Individuals with DMD have a faulty gene that normally produces dystrophin, a protein crucial for muscle strength and protection against damage.
- This condition primarily affects boys, as they are more susceptible to inheriting the defective gene compared to girls.
Risk Factors of Duchenne Muscular Dystrophy
DMD being in the family history is a risk factor. A person can carry the condition silently, meaning that a family member might have a copy of the faulty gene yet not get DMD. The gene can sometimes be passed down for generations before affecting a kid.
Another significant risk factor for Duchenne Muscular Dystrophy (DMD) is being male, as the condition is linked to mutations in the dystrophin gene located on the X chromosome. Since males have only one X chromosome, a single defective gene copy can cause DMD. In rare cases, new mutations can occur even without a family history, leading to the condition. Regular genetic testing in families with a history of DMD can help identify silent carriers and assess the risk for future generations.
Complications of Duchenne Muscular Dystrophy Some Common Complications of DMD includes:
Cardiac:
Orthopaedic problems:
- Osteopenia
- Joint contractures
- Scoliosis
Pulmonary:
- Pulmonary infections
- Respiratory insufficiency with decreased total lung capacity, decreased residual lung volume
Steroid treatment problems:
- Behavioral changes
- Cushingoid appearance
- Bone demineralization
- Hirsutism
- Growth suppression
- Weight gain
Miscellaneous
- Aspartate aminotransferase (AST) elevation
- Mental retardation
- Renal stones secondary to bone demineralization
Preventions of Duchenne Muscular Dystrophy
DMD cannot be prevented since it is inherited from the mother. Geneticists are investigating technologies that may be able to prevent the defect from being passed down, but no viable remedy has been developed. Before conception, genetic testing can establish whether a couple is at a higher risk of having children with DMD. Prospective parents with a family history of DMD can consult specialists to understand the inheritance pattern and explore options like in-vitro fertilization with genetic screening to reduce the likelihood of passing on the condition. Additionally, increased awareness and advancements in genetic research may offer better insights into preventing DMD in the future, though current preventive measures are limited.
Diagnosis of Duchenne Muscular Dystrophy
Regular medical examinations may detect symptoms of muscular dystrophy.
- Blood testing: These include genetic blood tests, showing the gene mutation causing lack of dystrophin in around two-thirds of males with DMD.
- Muscle biopsy: A small sample of muscle tissue examined under a microscope can determine the diagnosis in children with clinical evidence of DMD.
- Electromyogram (EMG): This test determines whether the child's muscular weakness is due to muscle tissue degeneration or than nerve injury.
- Electrocardiogram (ECG or EKG): A genetics counselor examines the risk factor of this neuromuscular disorder within each family and advises genetic testing for various family members, including the affected kid, and perhaps carrier testing for the mother.
Treatment for Duchenne Muscular Dystrophy
DMD treatment aims to minimize symptoms and keep the kid healthy. While there is currently no cure for this disorder, experts are working worldwide on medicines that might significantly improve neuromuscular disorders.
- Physiotherapy and occupational therapy: The kid will need help from a skilled physiotherapist. Physiotherapy is essential for keeping the kid active, healthy, and comfortable. The physiotherapist may design a regimen that includes active and passive stretching, aided stretching, and muscular elongation exercises. Splinting, orthotics and standing devices can also assist the child in being active for extended periods.
- Regular medical care: A neurologist, orthopaedics or paediatrician will examine the child's strength and general physical well-being, check for scoliosis, and monitor the child's breathing and heart function. Surgery can assist with back and foot issues.
- Medications: Many drugs have been used to treat DMD. Corticosteroids, such as prednisolone, may slow down the progression in children with DMD. The neurologist may prescribe steroids proven only to slow down the progression. Antisense oligonucleotides (ASO) are newer drugs approved for DMD.
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Book an AppointmentDos and Don’ts
Duchenne muscular dystrophy (DMD) is a rare hereditary disorder that causes muscle weakness in children.
It commonly develops in young children between the ages of 2 and 5. It causes muscle atrophy, which worsens over time. Most DMD boys use a wheelchair by the time they reach adolescence.
DMD has no cure; however, the dos and don'ts listed below can help manage the condition.
|
Do’s |
Don’ts |
|
Consume more calcium and get more vitamin D. |
Stay away from genetic counseling if DMD runs in the family history. |
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Exercise recommended by your physiotherapist. |
Avoid foods high in fluids and fiber |
|
Take prescribed medicines on time |
Avoid the medicines prescribed by the doctor. |
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Include a lot of vegetables and fruits in the diet |
Eat oily and foods containing saturated fats. |
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Maintain ideal body weight |
Stay sedentary with no physical activity. |
Precautions and self-care will help you fight this condition positively and improve your quality of life.
Duchenne Muscular Dystrophy Care at Medicover Hospitals
At Medicover Hospitals, we have the best team of neurologists, paediatricians, orthopaedics and muscular dystrophy specialists working together to provide the most effective Duchenne muscular dystrophy disease treatment and care. Our highly qualified staff treats a variety of neuromuscular diseases using the most up-to-date medical technologies. We use a multidisciplinary approach to treat muscular dystrophy and take care of all their medical needs to improve their quality of life.
Frequently Asked Questions
What is Duchenne Muscular Dystrophy (DMD)?
Duchenne Muscular Dystrophy is a genetic disorder characterized by progressive muscle weakness and degeneration. It primarily affects boys and is caused by mutations in the dystrophin gene.
What are the early signs and symptoms of DMD?
Early signs include delayed motor skills development, difficulty in climbing stairs, frequent falls, and calf muscle enlargement. These symptoms typically appear in early childhood.
How is DMD diagnosed?
DMD is often diagnosed through a combination of physical exams, muscle biopsies, genetic testing, and blood tests. Genetic testing is the most conclusive method for diagnosis.
Is Duchenne Muscular Dystrophy curable?
Currently, there is no cure for DMD. However, there are various treatments and therapies available to manage the symptoms, slow disease progression, and improve the quality of life for individuals with DMD.
What is the life expectancy for individuals with DMD?
Life expectancy for individuals with DMD has improved significantly with advances in medical care. Many individuals now live into their 30s or 40s, although this varies depending on the severity of the disease and access to care.
What are the available treatments for DMD?
Treatment options include physical therapy, steroids to slow muscle degeneration, and medications like exon-skipping drugs. Assistive devices like wheelchairs and respiratory support may also be necessary as the disease progresses.
Is DMD hereditary?
Yes, DMD is a genetic disorder inherited in an X-linked recessive manner. This means it is typically passed from mother to son, with daughters carrying a single mutated gene but not manifesting the condition.
Can girls be affected by DMD?
While girls can carry the genetic mutation for DMD, they are rarely affected by the disease itself. However, some female carriers may experience mild muscle weakness or other symptoms.
What research is being done to find a cure for DMD?
Numerous research initiatives are ongoing to find a cure or better treatments for DMD. This includes gene therapy, stem cell therapy, and CRISPR-based approaches aimed at repairing or replacing the faulty dystrophin gene.
How can I support individuals with DMD and their families?
You can support by raising awareness, volunteering with organizations focused on DMD, donating to research efforts, and providing emotional and practical support to affected families. Educating yourself about the condition is also valuable in offering assistance and understanding their needs.
