Logan Steele
Muscle disorders are diseases and disorders that affect the human muscle system. They can cause muscle weakness, pain, cramps, stiffness, and even paralysis. The medical name for muscle disorders is myopathy, and they can be inherited, such as muscular dystrophy, or acquired, such as alcoholic or steroid myopathy. Muscle disorders are debilitating and can significantly impact a patient's quality of life. They are often caused by defects in the structure and/or function of the muscle tissue, encompassing the muscle cells (myofibres) and their extracellular matrix.
| Characteristics | Values |
|---|---|
| Medical name | Myopathy |
| Main symptom | Weakness |
| Other symptoms | Cramps, stiffness, pain, paralysis |
| Causes | Genetic disorders, chronic degenerative conditions, nerve disorders, blood circulation defects, injury, inflammation, poisoning, blood vessel disease, exercise, abnormal posture, fatigue, calcium deficiency |
| Types | Neuromuscular disorders, muscular dystrophies, myopathies, primary muscle diseases, skeletal muscle disorders |
| Diagnosis | Genetic tests, neurological exam, muscle biopsy, blood or saliva tests |
| Treatment | Treat underlying condition, restrict exertion |
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What You'll Learn
- Muscular dystrophy causes muscle weakness and tissue wasting
- Duchenne MD is the most common type of MD, affecting boys
- Myotonic MD is characterised by an inability to relax muscles
- Facioscapulohumeral MD causes muscle weakness in the face, hip and shoulders
- Muscle disorders can cause pain, weakness or paralysis
Muscular dystrophy causes muscle weakness and tissue wasting
Muscle disorders can cause weakness, pain, or even paralysis. One such disorder is muscular dystrophy, which causes muscle weakness and tissue wasting.
Muscular dystrophy (MD) is a group of inherited genetic conditions that cause progressive muscle weakness and degeneration of skeletal muscles. MD is a progressive condition, meaning it gets worse over time. It often begins by affecting a particular group of muscles, before affecting the muscles more widely. For example, symptoms of Myotonic MD, the second most common type of MD, usually begin in the facial and neck muscles, with individuals typically exhibiting long, thin faces, drooping eyelids, and swan-like necks. Facioscapulohumeral MD, the third most common type, causes muscle weakness to begin in the face, hips, and shoulders. The shoulder blades of those with this form of MD might stick out like wings when the arms are raised.
The various types of MD differ in their age of onset, severity, and the pattern of muscles affected. While some types of MD progress slowly and cause only mild disability, others progress rapidly and cause severe impairment. Some types of MD affect the heart, lungs, or muscles used for breathing, at which point the condition becomes life-threatening. MD can also affect the gastrointestinal system, endocrine glands, spine, eyes, brain, or other organs.
MD is caused by changes (mutations) in the genes responsible for the structure and functioning of a person's muscles. These mutations cause changes in the muscle fibres that interfere with the muscles' ability to function. Over time, this causes increasing disability. The mutations are often inherited from a person's parents, with those with a family history of MD at a higher risk of developing the disease. While there is currently no cure for MD, treatment can help to manage many of the symptoms.
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Duchenne MD is the most common type of MD, affecting boys
Duchenne Muscular Dystrophy (DMD) is the most common type of MD, affecting around one in 5,000 males at birth. It is a genetic disorder characterised by progressive muscle degeneration and weakness due to alterations in a protein called dystrophin, which helps keep muscle cells intact. This weakness may present initially with difficulty in walking, but it progressively worsens to the extent that patients are unable to carry out daily activities and require wheelchairs. The onset of muscle weakness typically begins around age four and rapidly progresses. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up. By the age of 12, most individuals with Duchenne MD are unable to walk.
DMD is inherited in an X-linked recessive manner, which means that the flawed or mutated gene is located on the X chromosome. This results in boys being more frequently affected than girls, with an estimated incidence of one in 3,600 male live-born infants. In rare cases, girls can exhibit mild symptoms if they are carriers of the mutated gene.
DMD is one of the most severe forms of MD and is the most common hereditary neuromuscular disease. It does not exhibit a predilection for any particular race or ethnic group. Cardiac and orthopedic complications are common, and death usually occurs in the twenties due to respiratory muscle weakness or cardiomyopathy. There is currently no cure or treatment to halt the progression of the disease, but palliative care and therapies are available to manage symptoms and prevent orthopedic complications.
Research is actively pursuing several strategies for treating DMD, such as gene therapy, exon skipping, stop codon read-through, and gene repair. Human clinical trials are underway for some of these approaches. In 2016, the U.S. Food and Drug Administration (FDA) approved the first disease-modifying drug for DMD, and other medications such as corticosteroids and antisense drugs are also being developed to slow muscle degeneration.
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Myotonic MD is characterised by an inability to relax muscles
Muscle disorders can cause weakness, pain, or even paralysis. The medical term for a muscle disorder is myopathy. They can be inherited, such as muscular dystrophy, or acquired, such as alcoholic or steroid myopathy.
Myotonic MD, or myotonic dystrophy (DM), is a form of muscular dystrophy characterised by an inability to relax muscles at will, known as myotonia. Myotonia is a rare genetic condition in which muscles don't relax as they should after contracting, causing great physical and psychological difficulty for individuals. The term "myotonic" is the adjectival form of "myotonia". Myotonic dystrophy often is abbreviated as “DM” in reference to its Greek name, dystrophia myotonia.
The delayed relaxation of skeletal muscles after voluntary contraction can impact muscles throughout the body and may cause other symptoms depending on the type of myotonia. For example, a person with DM may not be able to let go of someone's hand after shaking it, or they may have trouble standing up. As the disease progresses, the heart muscle can weaken and develop an abnormal rhythm, and the muscles used for breathing can weaken, causing inadequate breathing, particularly during sleep. In type 1 DM, involuntary muscles such as those of the gastrointestinal tract can be affected, leading to difficulty swallowing, constipation, and gallstones. In females, uterine muscles can behave abnormally, leading to complications in pregnancy and labour.
Myotonia symptoms can arise in infancy, childhood, or adulthood, and there are several types of myotonia. Dystrophic myotonia (DM) is a type of muscular dystrophy that causes muscle weakness and loss over time. Types of DM include myotonic dystrophy type 1 (DM1), the most common form, and type 2. Dystrophic myotonia also affects the muscle structure itself, whereas non-dystrophic myotonia does not.
There is no well-established treatment for myotonia, but mexiletine has been shown to be effective in relieving myotonia in myotonic dystrophy type I and non-dystrophic myotonia. Other medications that have been suggested for treatment include imipramine, taurine, and clomipramine. In addition to pharmacologic management, trigger avoidance in non-dystrophic myotonia, such as avoiding cold exposure and strenuous exercise, can provide significant patient relief.
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Facioscapulohumeral MD causes muscle weakness in the face, hip and shoulders
Muscle disorders can cause weakness, pain, or even paralysis. One such disorder is muscular dystrophy, a group of inherited genetic conditions that gradually cause muscles to weaken, leading to an increasing level of disability. Facioscapulohumeral MD, also known as Facioscapulohumeral Muscular Dystrophy (FSH or FSHD), is a genetic muscle disorder that causes muscle weakness in the face, hip, and shoulders. It is the third most common type of muscular dystrophy, affecting around 1 in 20,000 people in the UK.
The name Facioscapulohumeral is derived from the Latin words for the parts of the body most affected by the disorder: the face (facies), the shoulder blades (scapula), and the upper arm (humerus). The disorder causes progressive muscle degeneration, with increasing weakness and atrophy (loss of bulk) of muscles. Weakness in the facial muscles can make it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling. It can also affect the eyes, preventing them from closing fully during sleep and leading to dry eyes and other eye problems.
In the shoulders and upper arms, FSHD causes difficulty in raising the arms over the head or throwing a ball. Weak shoulder muscles can cause the shoulder blades to protrude from the back, a condition known as scapular winging. The muscle weakness associated with FSHD worsens slowly over decades and may spread to other parts of the body. It can affect the lower legs, leading to a condition called foot drop, which impacts walking and increases the risk of falls. Weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances.
The onset and severity of FSHD vary widely. Symptoms typically develop during adolescence or early adulthood, but they can also appear as early as infancy or as late as middle age. In some mild cases, symptoms may not become noticeable until later in life. FSHD can be inherited from either parent or may occur without a family history. Research has found that the disorder is associated with abnormal activation of the DUX4 gene, leading to the production of potentially toxic proteins. Blocking these erroneously activated genes or the proteins they produce may be a pathway for future treatment.
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Muscle disorders can cause pain, weakness or paralysis
Muscle disorders are a large group of conditions that affect either the muscles or the nerves that control them. They can cause pain, weakness, or even paralysis. The muscles in the arms and legs, as well as those in the heart and lungs, may be affected.
Muscular dystrophy is a group of inherited genetic conditions that cause progressive weakness and loss of muscle mass. It is a type of muscle disorder that interferes with the production of proteins needed to form healthy muscle. The mutations that cause muscular dystrophy are often inherited from a person's parents and passed on to their children. It can affect people of all ages and races, but the most common variety, Duchenne MD, usually occurs in young boys. About 100 boys are born with Duchenne MD each year in the UK, and there are about 2,500 people living with the condition in the UK at any one time. Other types of MD include Myotonic MD, which is characterised by an inability to relax muscles following contractions, and Facioscapulohumeral MD, in which muscle weakness typically begins in the face, hip, and shoulders.
The primary symptom of muscular dystrophy is progressive muscle weakness, which can lead to trouble walking and using arms. Daily activities can become more difficult, and breathing problems may occur as the muscles associated with breathing are affected. Other symptoms include shortening of muscles or tendons around joints (contractures), which can further limit mobility, and emotional distress.
While there is currently no cure for muscular dystrophy or muscular disorders in general, a variety of treatments can help manage the condition. These include medications, physical therapy, occupational therapy, and, when necessary, surgery. Corticosteroids taken by mouth may be prescribed to reduce cramping and spasms, while immunosuppressants may be given to inhibit or prevent overactivity of the immune system. It is recommended that those with muscle disorders remain as active as possible, as complete inactivity can make the disease worse.
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Frequently asked questions
Muscle disorders are diseases and disorders that affect the human muscle system. They can cause weakness, pain, muscle atrophy, and even paralysis.
Muscle disorders can be inherited, such as muscular dystrophy, or acquired, such as alcoholic or steroid myopathy. They can also be caused by defects in blood circulation, injury, or inflammation of the muscle.
The main symptom of muscle disorders is weakness. Other symptoms include cramps, stiffness, pain, and muscle wasting.
