Summary about Disease
Muscular dystrophy (MD) is a group of genetic diseases that cause progressive weakness and degeneration of muscles. The underlying defect interferes with the production of proteins needed to form healthy muscle. There are many different types of MD, each with varying symptoms, age of onset, and severity.
Symptoms
Symptoms vary depending on the type of muscular dystrophy. Common symptoms include:
Progressive muscle weakness
Frequent falls
Difficulty rising from a sitting or lying position
Trouble running and jumping
Waddling gait
Muscle pain and stiffness
Learning disabilities (in some forms)
Delayed motor skills development
Drooping eyelids
Swallowing difficulties
Breathing difficulties
Curvature of the spine (scoliosis)
Heart problems (cardiomyopathy)
Causes
Muscular dystrophy is caused by genetic mutations that interfere with the production of muscle proteins. These mutations are often inherited. Different types of MD are associated with mutations in different genes. In some cases, the mutation occurs spontaneously.
Medicine Used
There is no cure for most forms of muscular dystrophy. Treatment focuses on managing symptoms and improving quality of life. Medications used include:
Corticosteroids (e.g., prednisone, deflazacort): To improve muscle strength and function and slow the progression of some types of MD.
Heart medications (e.g., ACE inhibitors, beta-blockers): To manage heart problems associated with some types of MD.
Respiratory medications: To manage breathing difficulties.
Anticonvulsants: To control seizures associated with some forms of MD.
Pain relievers: To manage muscle pain.
Creatine: Some studies suggest it might help improve muscle strength.
Eteplirsen and Golodirsen: These are exon-skipping drugs approved for Duchenne muscular dystrophy to help the body produce a working, but shortened, version of the dystrophin protein, only effective for specific genetic mutations.
Is Communicable
Muscular dystrophy is not communicable. It is a genetic disease, meaning it cannot be spread from person to person through contact or airborne transmission.
Precautions
Since muscular dystrophy is genetic, there are no precautions to prevent contracting it. However, if you have a family history of MD, genetic counseling and testing can help determine your risk of having or passing on the gene. For individuals already diagnosed with MD, precautions focus on managing symptoms and preventing complications:
Regular exercise (as recommended by a physical therapist) to maintain muscle strength and flexibility
Assistive devices (e.g., wheelchairs, braces) to help with mobility
Respiratory therapy to manage breathing difficulties
Healthy diet to maintain overall health
Cardiac monitoring to detect and manage heart problems
Fall prevention strategies
How long does an outbreak last?
Muscular dystrophy is not an outbreak. It's a chronic, progressive disease. Symptoms typically worsen over time. There is no specific period of "outbreak.
How is it diagnosed?
Diagnosis typically involves:
Physical exam: To assess muscle strength, reflexes, and coordination.
Medical history: Reviewing family history and symptoms.
Blood tests: To check for elevated levels of creatine kinase (CK), an enzyme released when muscle is damaged.
Genetic testing: To identify the specific genetic mutation causing the MD.
Muscle biopsy: A small sample of muscle tissue is examined under a microscope.
Electromyography (EMG): To measure the electrical activity of muscles.
Echocardiogram (ECG/EKG): To evaluate heart function.
Timeline of Symptoms
The timeline of symptoms varies greatly depending on the type of MD:
Duchenne muscular dystrophy: Symptoms usually appear in early childhood (ages 2-5). Weakness progresses rapidly.
Becker muscular dystrophy: Symptoms appear later, typically in adolescence or early adulthood. Progression is slower than Duchenne.
Myotonic muscular dystrophy: Symptoms can appear at any age, from infancy to adulthood.
Limb-girdle muscular dystrophy: Onset varies, but often occurs in childhood or early adulthood.
Facioscapulohumeral muscular dystrophy: Symptoms often begin in adolescence, affecting the face, shoulders, and upper arms.
Congenital muscular dystrophy: Present at birth or shortly thereafter. The general progression is muscle weakness leading to loss of function over time.
Important Considerations
Early diagnosis and intervention are crucial for managing symptoms and improving quality of life.
Multidisciplinary care involving neurologists, physical therapists, occupational therapists, cardiologists, pulmonologists, and other specialists is essential.
Genetic counseling is important for families with a history of MD.
Research is ongoing to develop new treatments and potential cures for MD.
Support groups and resources can provide valuable information and emotional support for individuals with MD and their families.
Respiratory support is critical as the disease progresses.
Cardiac monitoring is vital as some forms of MD affect the heart.