Muscular Dystrophy: Causes, Risk Factors and Complications
Muscular Dystrophy (MD) is a term used for a group of genetic disorders that cause gradual weakness and breakdown of the muscles responsible for movement. Over time, the muscles start to weaken, which leads to a decrease in muscle mass and function. MD mainly affects the skeletal muscles, but it can also affect other organs like the heart and the respiratory system. The severity and speed at which the disease progresses depend on the specific type of muscular dystrophy.
What are the Different Types of Muscular Dystrophy?
There are several types of Muscular Dystrophy (MD), each with its own symptoms, progression, and muscles affected. The most common Muscular dystrophy types include:
- Duchenne Muscular Dystrophy (DMD): This is the most common and severe form, mainly affecting boys. It causes rapid muscle weakness, usually starting in early childhood, and most children lose the ability to walk by the age of 12.
- Becker Muscular Dystrophy (BMD): This is a milder version of DMD, also affecting mainly boys but progressing much more slowly. Symptoms typically appear during adolescence, and loss of walking ability can happen in adulthood.
- Myotonic Muscular Dystrophy: This type causes muscle weakness and stiffness. It can affect both men and women and is often linked with other symptoms like cataracts, heart problems, and breathing difficulties.
- Facioscapulohumeral Muscular Dystrophy (FSHD): This type affects the muscles of the face, shoulders, and upper arms. Symptoms usually appear in the teenage years and progress at a slow pace.
- Limb-Girdle Muscular Dystrophy (LGMD): This affects the muscles around the hips and shoulders. The symptoms can start at any age, and the severity varies from person to person.
- Congenital Muscular Dystrophy (CMD): This group of disorders appears either at birth or during infancy, leading to muscle weakness. The severity varies, and it can also affect other body systems such as the eyes and heart.
- Distal Muscular Dystrophy: This affects the muscles farthest from the body’s center, like those in the hands, feet, and lower legs. The symptoms usually start in adulthood and progress slowly.
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Get A Second OpinionWhat are the Symptoms of Muscular Dystrophy?
The symptoms of Muscular Dystrophy (MD) can differ based on the type and muscles affected. However, some common Muscular dystrophy symptoms include:
- Progressive Muscle Weakness: Muscle weakness starts in specific areas like the hips, shoulders, or face and gradually spreads over time.
- Difficulty Walking: As the disease progresses, individuals may find it difficult to walk or may eventually lose the ability to walk.
- Frequent Falls: Weak muscles, especially in the legs, can lead to frequent falls or stumbling.
- Muscle Cramps and Pain: Many people with MD experience muscle cramps, stiffness, and pain.
- Breathing Problems: In some forms of MD, the muscles that control breathing weaken, leading to shortness of breath or other respiratory issues.
- Heart Problems: Some types, like Duchenne and Becker, can affect the heart, causing heart failure or irregular heartbeats.
- Difficulty with Daily Activities: Tasks like lifting objects, climbing stairs, or getting up from a sitting position become harder as muscle strength reduces.
- Scoliosis: A curved spine may develop, especially in individuals with severe forms of MD.
- Joint Contractures: Stiff joints caused by muscle weakness can restrict movement, leading to contractures (tightening of the muscles or tendons).
When to see a doctor?
Consult the doctor if the condition worsens, and the symptoms of Muscular Dystrophy become more severe. Get the best treatment for Muscular Dystrophy with our best orthopaedic surgeons at Medicover Hospitals.
What Causes Muscular Dystrophy?
Muscular Dystrophy (MD) is caused by genetic mutations that affect the production of proteins necessary for proper muscle function. These mutations are inherited, meaning the condition is passed down from parents to their children. The specific type of MD and how it progresses depends on the kind of genetic mutation. Here are the following Muscular dystrophy causes:
- Genetic Mutations: In MD, the genes responsible for making muscle proteins are defective, leading to muscle weakness and degeneration.
- X-linked Inheritance: Some types of MD, like Duchenne and Becker, are inherited in an X-linked manner, meaning the defective gene is on the X chromosome. This usually affects males more severely.
- Autosomal Inheritance: Other types, like Limb-Girdle Muscular Dystrophy or Myotonic Muscular Dystrophy, are inherited in an autosomal dominant or recessive way, which means they can affect both males and females.
- Deletions or Duplications of Genes: In many cases, parts of the genes that are responsible for muscle strength are either deleted or duplicated, disrupting normal muscle function.
These genetic defects lead to the absence or malfunction of essential proteins like dystrophin in Duchenne MD, which helps protect muscle cells. Without these proteins, muscle fibers become damaged and weaken over time.
What are the Complications of Muscular Dystrophy?
As the disease progresses and muscle weakness worsens, Muscular Dystrophy (MD) can result in several complications. The degree of these complications depends on the type of MD and the age of onset. Common complications include:
- Heart Problems: Several types of MD, primarily Duchenne and Becker, can impact the heart as well, causing heart failure, heart rhythm problems, or a range of other heart issues.
- Respiratory Issues: The weakening of the muscles responsible for breathing may result in respiratory infections, sleep apnea, and eventually lead to the need for ventilatory support.
- Loss of Mobility: People may be unable to walk or need a mobility aid, like a wheelchair, as the muscles weaken. This loss of movement can actually be a hindrance to independence and quality of life.
- Scoliosis: One of the prevalent symptoms is a curved spine (scoliosis) as a result of muscle weakness, which can require surgical procedure or bracing.
- Joint Contractures: Weak muscles lead to stiff joints, limited movement and contractures (tightening of muscle or tendon).
- Dysphagia: Certain types of MD may involve the muscles used in swallowing, which can make it difficult to eat and can cause choking.
- Mental health issues: Living with a chronic illness can trigger depression, anxiety and other mental health issues.
- Gastrointestinal Problems: The weak muscles can result in constipation, gastric reflux, or difficulty in swallowing.
Difficulties that heavily impact the individual’s well-being. Muscular dystrophy life expectancy also varies depending on the type of MD. Some, like Duchenne, can shorten life expectancy significantly, while others can allow a person to live on into adulthood if managed properly.
How Muscular Dystrophy is Diagnosed?
Diagnosis of Muscular Dystrophy (MD) includes a clinical assessment, genetic testing, as well as several tests evaluating muscle function. The diagnosis typically has the following steps:
- Medical History and Physical Examination: The doctor will start by taking a thorough medical history, including any family history of MD, and examining the patient for signs of muscle weakness, trouble with movement, and other symptoms associated with MD.
- Blood Tests: A blood test can detect levels of creatine kinase (CK), an enzyme that is often increased in many forms of MD due to muscle breakdown. High values could mean that a muscular disorder exists.
- Genetic Testing: MD is caused by genetic mutations, therefore, specific gene mutation testing is recommended. Duchenne MD, for example, is caused by mutations in the gene coding for dystrophin, although other mutations in other genes can also account for other forms of MD and mutations can be confirmed by DNA analysis.
- Muscle Biopsy: In some instances a tiny piece of muscle tissue is extracted and viewed under a microscope. This clarifies the extent of muscle damage and the specific type of MD.
- Electromyography(EMG): EMG used to measure the electrical activity in the muscles It assists in determining abnormal muscle activity and aids in diagnosing MD.
- Muscle Ultrasound or MRI: Imaging tests such as muscle ultrasound or MRI are performed to evaluate the structure of the muscle and to look for signs of muscle degeneration or inflammation.
- Cardiac and Respiratory Evaluation: Because MD can impact heart and respiratory muscles, tests such as ECG (electrocardiogram) for heart function assessment and spirometry for lung function evaluation are also typically ordered.
Muscular Dystrophy Treatment
The primary goals of treatment for muscular dystrophy (MD) are symptom management, disease progression slowing, and quality of life enhancement. Although there is currently no muscular dystrophy cure, individuals can preserve their general health and muscle function with a number of therapy choices.
Medications
- Corticosteroids like prednisone can help slow down muscle degeneration and improve strength, especially in conditions like Duchenne MD.
- Heart medications such as ACE inhibitors or beta-blockers may be prescribed if MD affects the heart to manage its function.
- Newer medications like Eteplirsen and Golodirsen may help improve muscle strength in some forms of Duchenne MD by promoting dystrophin production.
Physical Therapy
- Regular physical therapy helps maintain muscle strength, flexibility, and joint mobility, delaying contractures (muscle tightening) and improving function.
- Stretching exercises and muscle-strengthening routines are commonly recommended to prevent stiffness.
Assistive Devices
- As muscle weakness worsens, crutches, braces, and wheelchairs can help with mobility.
- Orthotic devices assist prevent abnormalities like scoliosis and support weak joints.
Respiratory Support
- For individuals whose respiratory muscles are affected, ventilatory support (such as positive pressure ventilation) may be needed for breathing assistance.
- Non-invasive ventilation like BiPAP or CPAP is commonly used to improve breathing, particularly during sleep.
Surgical Options
- Surgical treatments may be required to correct joint contractures, scoliosis, or other deformities caused by muscle weakness.
- In severe cases, heart surgery may be necessary if the heart is impacted by MD.
Nutritional Support
- If swallowing becomes difficult, a dietitian may recommend special diets or feeding tubes to ensure proper nutrition.
- Maintaining weight and using nutritional supplements can help improve overall health.
Psychosocial Support
- Since MD can impact mental health, counseling and psychological support are essential for managing depression, anxiety, and the challenges of living with a chronic condition.
- Support groups and social services provide emotional support and practical advice for patients and their families.
With specialized care and therapy choices offered in numerous hospitals and clinics, successful treatment of muscular dystrophy in India. While there is currently no cure for MD, there is optimism that the disease's development can be slowed and quality of life can be enhanced via continued research into gene therapy and other treatments.
How to Prevent Muscular Dystrophy?
Muscular Dystrophy (MD) is a genetic condition, so there is no sure way to prevent it. However, there are steps that can help manage the risk and support overall health, especially for those with a family history of MD or who might pass it on to their children.
Here are some ways to approach muscular dystrophy prevention:
Genetic Counseling
- If there is a family history of MD, it's good to consult a genetic counselor. They can assess the risk of passing the condition to future children and help make informed decisions about family planning.
- Genetic testing can identify if someone carries the genes responsible for MD, so that they are aware of the risks.
Prenatal Testing
For families with known risk factors, prenatal genetic testing like chorionic villus sampling or amniocentesis can check if the baby has the genetic mutation for MD. This can help with early diagnosis and planning.
Early Diagnosis and Intervention
- Though MD cannot be prevented, early diagnosis can help. If the condition is detected early, treatment like physical therapy, medications, and the use of assistive devices can slow down the progression and improve the quality of life.
- Parents should watch for early signs such as difficulty in walking, muscle weakness, or frequent falls, especially in children.
Maintaining Overall Health
- Exercise and a balanced diet can improve muscle strength and flexibility, although they cannot prevent MD. Staying active and following a healthy routine can help manage symptoms and improve health.
- Physical therapy is important to keep the muscles as strong and flexible as possible.
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Book an AppointmentDos and Don’ts
Muscular Dystrophy refers to a group of over 30 hereditary diseases that affect the muscles. Duchenne muscular dystrophy (DMD) is the most common type, and it causes rapid muscle loss and progressive weakening beginning in childhood. Although there is no cure for MD, medications and other therapy can help slow the illness and enhance a patient’s quality of life. However, living with MD may be difficult for people and their loved ones, and the life expectancy of individuals with MD varies depending on the type and severity of the symptoms. Following these dos and don'ts will assist you in managing the condition.
Do’s |
Don’ts |
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Eat a well-balanced die |
Eat junk foods |
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Exercise regularly to improve muscle activity |
Avoid taking medicines as prescribed by the doctor |
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Avoid dry foods with loose crumbs, like crackers or chips |
Rush a meal, allowing time to eat |
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Avoid processed foods, such as white bread, sugar, and pasta |
Drink sugar-sweetened beverages, like carbonated drinks, coffee, and alcohol. |
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Meditate and practise yoga to keep your mind healthy and positive |
Stay sedentary with no physical activity |
Precautions and self-care will help you fight this condition positively and improve your quality of life.
Muscular Dystrophy Care at Medicover Hospitals
At Medicover, we have the best team of Orthopaedic Surgeons and other doctors who work together to provide Muscular Dystrophy condition treatment with utmost precision. Our highly skilled team utilises the latest medical equipment, diagnostic procedures and technologies to treat various Muscular Dystrophy conditions and ailments. For treating Muscular Dystrophy, we adopt a multi-disciplinary approach, provide comprehensive care to the patients, and attend to all their medical needs for faster and sustained recovery.
Frequently Asked Questions
What is the life expectancy of a person with muscular dystrophy?
Life expectancy varies based on the type of muscular dystrophy, but many individuals live into their 30s to 40s, with some types having a more severe prognosis.
How does muscular dystrophy affect you mentally?
Muscular dystrophy can lead to emotional challenges, such as depression and anxiety, due to physical limitations and the progressive nature of the condition.
Is muscular dystrophy painful?
Muscular dystrophy itself is not typically painful, but muscle weakness and contractures may cause discomfort.
Who suffers from muscular dystrophy?
Muscular dystrophy primarily affects males, but certain types can also affect females. It is usually diagnosed in childhood.
Can exercise stop muscular dystrophy?
Exercise cannot stop or reverse muscular dystrophy, but it can help maintain muscle strength and flexibility.
What age does muscular dystrophy start?
Symptoms of muscular dystrophy typically begin in childhood, but the age of onset can vary depending on the specific type.
Is muscle atrophy painful?
Muscle atrophy itself is not painful, but the weakness and loss of function may lead to discomfort or other related conditions.
What organ does muscular dystrophy affect?
Muscular dystrophy primarily affects skeletal muscles but can also impact the heart and respiratory muscles.
Can stress cause muscle dystrophy?
Stress does not cause muscular dystrophy, but it can worsen symptoms or lead to increased muscle tension.
