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Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterised by progressive muscle degeneration and weakness due to alterations in a protein called dystrophin, which is responsible for keeping muscle cells intact. DMD is the most common form of muscular dystrophy, affecting young boys primarily, but in rare cases, it can also affect girls. The symptoms of DMD include difficulty with jumping, running, and walking, along with enlargement of the calves, a waddling gait, and lumbar lordosis. As the disease progresses, it impacts the heart and respiratory muscles, leading to potential acute respiratory failure. While there is currently no cure for DMD, medications and therapy can help manage symptoms and slow the progression of the disease.
| Characteristics | Values |
|---|---|
| Type | Muscular dystrophy |
| Cause | Abnormal genes (mutations) that interfere with the production of proteins needed to form healthy muscle |
| Symptoms | Progressive muscle weakness, trouble walking, trouble using arms, muscle pain, breathing problems, scoliosis, heart problems, swallowing problems, etc. |
| Onset | Childhood, adulthood, or congenital |
| Diagnosis | Genetic testing |
| Treatment | Medications and therapy to manage symptoms and slow the course of the disease |
| Prognosis | Progressive worsening of symptoms over time |
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What You'll Learn
- Skeletal muscles are the most common type of muscles in the body
- Cardiac muscles are involuntary muscles that make up the heart
- Smooth muscles are involuntary and line the inside of some organs
- Muscles are made of thousands of small fibres woven together
- Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass
Skeletal muscles are the most common type of muscles in the body
There are over 600 muscles in the human body, and skeletal muscles make up a large proportion of these. Skeletal muscles are attached to bones by tendons and allow us to perform a wide range of movements and functions. They are part of the voluntary muscular system, meaning we control how and when they move and work.
Skeletal muscles are made up of thousands of small, flexible fibres that contract and stretch, enabling us to move our bones. These fibres are red and white and have a striped appearance, so skeletal muscles are often referred to as striated muscles. Each skeletal muscle contains multiple fascicles or bundles of muscle fibres, and each fibre and muscle is surrounded by a type of connective tissue layer called fascia. Skeletal muscles also contain motor units, which are the functional units responsible for muscle contraction.
Skeletal muscles play a vital role in everyday activities such as breathing, eating, and moving. They also help maintain posture and balance, protect our vital organs, and provide structural support for the body. In addition, skeletal muscles act as a storage source for amino acids, which different organs can use to synthesise organ-specific proteins. They also play a role in maintaining thermostasis and can be an energy source during starvation.
Males generally have more skeletal muscle mass than females, and taller or overweight people also tend to have higher muscle mass. However, muscle mass decreases with age, so it is important to maintain skeletal muscle health through appropriate exercise and medical guidance.
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Cardiac muscles are involuntary muscles that make up the heart
The human body is made up of more than 600 muscles, which are used almost constantly. These muscles are made up of thousands of small fibres woven together, allowing for movement and supporting the organs. There are three types of muscles in the body: skeletal, cardiac, and smooth muscle.
Skeletal muscles are voluntary muscles, meaning that they are controlled by the somatic nervous system. They are attached to the bones and allow for a wide range of movements and functions. Cardiac and smooth muscles, on the other hand, are involuntary muscles controlled by the autonomic nervous system.
Cardiac muscles, also known as myocardium, are involuntary muscles that make up the heart. They form the thick middle layer of the heart wall, known as the myocardium, which is sandwiched between the outer layer (the pericardium or epicardium) and the inner layer (the endocardium). Cardiac muscle cells, or cardiomyocytes, are the contractile cells that allow the heart to pump blood through the cardiovascular system. These cells are surrounded by an extracellular matrix and are joined by intercalated discs.
The heart contracts in a coordinated manner, allowing the ventricles to squeeze in several directions simultaneously: longitudinally, radially, and with a twisting motion. This complex movement ensures that the maximum amount of blood is pumped out of the heart with each heartbeat. The rhythm of these contractions is set by specialised cardiomyocytes known as pacemaker cells, which are distributed throughout the heart. They generate and send out electrical impulses, causing the release of calcium from the cell's internal store, resulting in the cell's myofilaments sliding past each other in a process called excitation-contraction coupling.
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Smooth muscles are involuntary and line the inside of some organs
Smooth muscles are involuntary muscles that line the inside of some organs. They are non-striated and consist of thick and thin filaments that are not arranged into sarcomeres. Smooth muscles are an integral part of the human body and are required for life. They are found in almost every organ system, including the cardiovascular, respiratory, gastrointestinal, urinary, reproductive, and digestive systems.
Smooth muscles play a crucial role in maintaining blood pressure and flow within the cardiovascular system. They help regulate blood flow, endothelial network growth, and vessel stability. Additionally, smooth muscles are involved in the opening and closing of airways in the lungs. In the gastrointestinal system, they contribute to motility and nutrition collection.
Smooth muscles also line the blood vessels, stomach, digestive tract, and other internal organs. They are composed of bundles of specialized cells capable of contraction and relaxation, which create movement. This movement is controlled by the nervous system, which uses hormones, neurotransmitters, and other receptors to regulate smooth muscle activity spontaneously.
Smooth muscles have greater elastic properties than striated muscles, which is important in organ systems like the urinary bladder, where contractile tone must be preserved. They perform essential functions such as moving waste through the intestines and aiding the lungs in expanding during breathing. Smooth muscles are an essential component of the human body, facilitating various physiological processes and contributing to overall health and well-being.
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Muscles are made of thousands of small fibres woven together
The human body is made up of more than 600 muscles, which are used constantly, even without conscious thought. These muscles are made of thousands of small fibres woven together, stretching and pressing to move the organs and the body. They are pieces of soft tissue that run in all directions and work together to move the body.
There are three types of muscles in the body: skeletal, cardiac, and smooth muscle. Skeletal muscles are attached to the bones by tendons, and together they produce all body movements. They are voluntary muscles, meaning that they move when you think about moving that part of the body. They are also known as striated muscles because they have a distinctive striped appearance due to the regular pattern of fine red and white lines crossing them. Each skeletal muscle consists of thousands of muscle fibres bundled together and wrapped in a connective tissue covering.
Cardiac muscles, which make up the middle layers of the heart, are also striated. They squeeze and relax to pump blood through the cardiovascular system. Cardiac muscles are involuntary, meaning they work without conscious thought.
Smooth muscles are also involuntary and line the inside of some organs. They play an important role in many body systems, including the reproductive, urinary, respiratory, and digestive systems. They perform essential functions such as moving waste through the intestines and helping the lungs expand during breathing.
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Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass
Muscular dystrophy (MD) is a group of inherited genetic diseases that cause progressive weakness and degeneration of skeletal muscles. There are more than 30 types of MD, and all forms of the disease worsen over time as muscles progressively degenerate and weaken. While some types of MD progress rapidly, others advance slowly over many years and cause minimal disability. In some cases, the progression of the disorder appears to stop, but later resumes.
The various types of MD are defined by specific features or by where in the body symptoms begin. For example, myotonic MD is characterised by an inability to relax muscles following contractions, with facial and neck muscles usually being the first affected. Facioscapulohumeral (FSHD) MD typically begins in the face, hip, and shoulders, with onset usually occurring in teenage years but sometimes beginning in childhood or as late as age 50. Congenital MD is apparent at birth or before age 2 and can cause severe impairment or mild disability. Limb-girdle MD refers to more than 20 inherited conditions marked by progressive loss of muscle and the symmetrical weakening of voluntary muscles, primarily in the shoulders and hips. Distal MD primarily affects the distal muscles in the forearms, hands, lower legs, and feet and is typically less severe and slower progressing than other forms of MD.
The main sign of MD is progressive muscle weakness, with specific signs and symptoms varying based on the type of MD and beginning at different ages and in different muscle groups. Complications of progressive muscle weakness include trouble walking, difficulty using arms, shortening of muscles or tendons around joints (contractures), breathing problems, swallowing disorders, heart problems, and curved spine (scoliosis). Some people with MD eventually need to use a wheelchair or breathing assistance device.
MD occurs when certain genes involved in making proteins that protect muscle fibres are defective. These abnormal genes interfere with the production of proteins needed to form healthy muscle. Most of these mutations are inherited, and people with a family history of MD are at higher risk of developing or passing on the disease. MD occurs in both sexes and all ages, races, and ethnicities, although the most common variety, Duchenne MD, usually occurs in young boys. There is no cure for MD, but medications and therapy can help manage symptoms and slow the course of the disease.
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Frequently asked questions
Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterised by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. It is the most common form of muscular dystrophy, affecting young boys primarily, but in rare cases, it can affect girls.
DMD affects the proximal muscles first (those close to the core of the body) and later the distal limb muscles (those close to the extremities). Lower external muscles are usually affected before upper external muscles. Some symptoms include difficulty in jumping, running, and walking, enlargement of the calves, a waddling gait, and lumbar lordosis (an inward curve of the spine). As the disease progresses, it affects the heart and respiratory muscles as well, leading to acute respiratory failure.
While there is currently no cure for DMD, medications and therapy can help manage symptoms and slow the progression of the disease. Physical therapy, occupational therapy, and speech therapy are often recommended to help with movement, daily activities, and swallowing difficulties.
DMD is caused by a mutation in a gene on the X chromosome, resulting in a lack of dystrophin protein, which is essential for keeping muscle cells intact. This leads to fragile and easily damaged muscle cells. The disease causes progressive muscle weakness, affecting movement, walking, and daily activities. It can also impact the heart and lungs, leading to cardiac and respiratory complications.
