Muscular Dystrophy

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Muscular Dystrophy

Muscular dystrophy (MD) is a group of genetic disorders that affect the muscles and cause progressive muscle weakness and degeneration. MD is caused by mutations in genes that are responsible for the structure and function of muscles, which leads to the breakdown and loss of muscle tissue over time.

 

There are many different types of MD, each with unique genetic mutations and symptoms. Some types of MD are present at birth, while others may not show symptoms until later in life. MD can affect people of all ages, races, and genders, but it is more common in males than females.

 

A study conducted in 2016 estimated the prevalence of DMD in India to be around 1 in 3,500 male births. Another study conducted in 2019 estimated the prevalence of DMD in the state of Tamil Nadu to be around 1 in 5,332 male births.

 

Types and Causes:

There are several types of muscular dystrophy (MD), each with its own specific features, symptoms, and genetic causes. Here are some of the most common types of MD:

  • Duchenne muscular dystrophy (DMD): This is the most common and severe form of MD, affecting mostly boys. It is caused by mutations in the dystrophin gene which provides instructions for making the dystrophin protein and usually appears in early childhood. Without enough dystrophin, muscle cells become weak and eventually die.
  • Becker muscular dystrophy (BMD): Caused by mutations in the same dystrophin gene as DMD, but with a milder progression of symptoms due to the production of some functional dystrophin protein.
  • Limb-girdle muscular dystrophy (LGMD): A group of disorders caused by mutations in various genes that affect the muscles of the hips and shoulders. Depending on the specific gene involved, different proteins may be affected, leading to muscle weakness and wasting.
  • Facioscapulohumeral muscular dystrophy (FSHD): Caused by mutations in the DUX4 gene, which is normally suppressed in healthy muscle cells. In people with FSHD, the DUX4 gene is abnormally activated, leading to muscle weakness and wasting.
  • Myotonic muscular dystrophy (MMD): Caused by mutations in the DMPK or CNBP genes, which produce proteins that are essential for muscle function. These mutations can interfere with the production or function of these proteins, leading to muscle stiffness and weakness.
  • Emery-Dreifuss muscular dystrophy (EDMD): Caused by mutations in the EMD or LMNA genes, which produce proteins that are important for maintaining the structure of muscle cells. These mutations can interfere with the structure and function of muscle cells, leading to muscle weakness and joint stiffness.
  • Congenital muscular dystrophy (CMD): Caused by mutations in various genes that affect the development and function of muscle cells. Depending on the specific gene involved, different proteins may be affected, leading to muscle weakness and wasting.
  • Distal muscular dystrophy: Caused by mutations in various genes that affect the muscles of the hands, forearms, feet, and lower legs. Depending on the specific gene involved, different proteins may be affected, leading to muscle weakness and wasting.

 

Symptoms:

Symptoms of MD vary depending on the type of MD and the severity of the disease, but may include:

  • Muscle weakness: Weakness in the muscles is the hallmark symptom of MD. The degree and location of muscle weakness vary depending on the type of MD. In some types of MD, weakness may begin in the hips or shoulders and progress to the arms and legs. In others, weakness may begin in the face and throat muscles and progress to the arms and legs.
  • Muscle wasting: Over time, the muscles affected by MD may become smaller and weaker due to lack of use. This can lead to a loss of muscle mass and strength, making it difficult to perform daily tasks.
  • Contractures: Contractures are a common complication of MD, in which the muscles and tendons become stiff and inflexible. This can make it difficult to move joints and may cause joint deformities.
  • Difficulty walking: In many cases, people with MD have difficulty walking or may require a wheelchair for mobility.
  • Difficulty with fine motor skills: People with MD may have difficulty with fine motor skills, such as writing, typing, and manipulating small objects.
  • Breathing difficulties: In some types of MD, weakness in the chest and diaphragm muscles can cause breathing difficulties.
  • Swallowing difficulties: In some types of MD, weakness in the throat muscles can cause difficulty swallowing, choking, and aspiration.
  • Cardiac problems: In some types of MD, the heart muscle may also be affected, leading to cardiac problems such as arrhythmia, cardiomyopathy, and heart failure.
  • Speech difficulties: In some types of MD, weakness in the face and throat muscles can cause speech difficulties.

The symptoms of MD usually begin in childhood or early adulthood, although the age of onset and progression of symptoms can vary widely depending on the type of MD.

 

Complications:

Muscular dystrophy (MD) can lead to a number of complications, which can vary depending on the type and severity of the disease. Some of the complications of MD include:

  • Respiratory failure: Respiratory failure can occur in some types of MD as the muscles used for breathing become weak, making it difficult for the individual to breathe on their own.
  • Cardiac complications: In some types of MD, the heart muscle can also be affected, leading to arrhythmia, cardiomyopathy, and heart failure.
  • Scoliosis: Scoliosis, or curvature of the spine, is a common complication of MD. Weakness in the muscles of the back can cause the spine to curve, leading to back pain and difficulty with breathing.
  • Contractures: Contractures, or the permanent shortening of muscles and tendons, can occur in people with MD due to muscle weakness and lack of use. This can lead to joint deformities and difficulties with mobility.
  • Nutritional deficiencies: People with MD may have difficulty getting the nutrients they need due to difficulty swallowing and digestive problems. This can lead to nutritional deficiencies, which can exacerbate the symptoms of MD.
  • Depression and anxiety: Coping with a chronic and progressive disease like MD can be difficult, and many people with MD experience depression and anxiety as a result.
  • Social isolation: The physical limitations imposed by MD can make it difficult for individuals to participate in social activities and can lead to social isolation.
  • Reduced life expectancy: The life expectancy of people with MD varies depending on the type and severity of the disease, but in general, MD is associated with a reduced life expectancy. In some cases, respiratory or cardiac complications can lead to premature death.

 

Role of Neurotherapy:

  • Heparin Treatment: Heparin has been shown to inhibit the activity of certain inflammatory molecules, such as tumour necrosis factor-alpha (TNF-α) and interleukin-6 (IL-6). Inflammation plays a role in the progression of muscular dystrophy, and reducing excessive inflammation may help protect muscle tissue from damage.
    • In muscular dystrophy, repeated cycles of muscle degeneration and regeneration lead to the accumulation of fibrotic (scar) tissue. Heparin has been investigated for its potential to inhibit the deposition of fibrotic tissue and promote a more favourable environment for muscle repair.
    • Heparin has been found to enhance the activity of growth factors and promote the proliferation and differentiation of muscle precursor cells (myoblasts). This property may support muscle regeneration and contribute to the restoration of muscle function.

Thus, with the help of neurotherapy, heparin is naturally produced in order to use its aforementioned properties to treat MD.

  • Stimulation of Medulla: This is helpful in muscle relaxation and smoothening.
  • Adrenaline Treatment: Adrenaline, also known as epinephrine, is a hormone and neurotransmitter produced by the adrenal glands. Its primary role is to prepare the body for the “fight or flight” response in times of stress or danger. Adrenaline has several physiological effects on the body, including increased heart rate, blood pressure, and blood flow to muscles. Individuals with MD may have weakened respiratory muscles, leading to breathing difficulties. In situations where there is a sudden need for increased oxygen intake, such as during physical exertion or stress, the body may release adrenaline to help increase heart rate and respiratory function. This can temporarily improve the person’s ability to cope with increased demands on the muscles and enhance their performance to some extent. It also provides the muscle strength.
  • Sodium Ion Formula: Sodium ions (Na+) play a crucial role in the functioning of muscle cells, including those affected by muscular dystrophy (MD). The balance of sodium ions across the cell membrane is necessary for proper muscle contraction and relaxation.
    • Certain types of muscular dystrophy, such as some forms of myotonic dystrophy and periodic paralysis, involve defects in ion channels that control the movement of sodium ions across the muscle cell membrane. These defects can disrupt the normal electrical activity of muscle cells, leading to symptoms such as muscle stiffness, weakness, and altered muscle contractions.
    • In some forms of muscular dystrophy, including Duchenne muscular dystrophy (DMD), the absence or deficiency of certain muscle proteins, such as dystrophin, can result in membrane instability. This instability allows an abnormal influx of sodium ions into muscle cells, leading to increased cell damage and muscle degeneration.
    • Maintaining the balance of sodium ions within muscle cells is essential for normal muscle function. Disruptions in ion homeostasis, including altered sodium levels, can contribute to cellular stress and damage in muscular dystrophy.

Taking into consideration the above-mentioned factors, this formalized treatment is performed, which is quite effective.