Dominic Stone
Muscular dystrophy (MD) is a group of more than 30 inherited diseases that cause progressive muscle weakness and degeneration of skeletal muscles. The condition is caused by changes in the genes that make proteins needed to form healthy muscles. MD affects people of all sexes and can manifest at any age. While the symptoms of MD vary, they often include muscle pain, difficulty with movement, and heart problems. Given the wide range of symptoms associated with MD, it is important to consider whether the condition may also cause muscle spasms.
| Characteristics | Values |
|---|---|
| Definition | A group of more than 30 [inherited] genetic conditions that cause muscle weakness and other muscle-related symptoms. |
| Cause | Changes in the genes that make proteins needed to form healthy muscles. |
| Age of onset | Varying, can be present at birth, develop in childhood, or develop in adulthood. |
| Severity | Varying, some types cause rapid muscle weakness and physical disability, while others progress slowly. |
| Symptoms | Muscle weakness, muscle pain, stiffness, spasms, twitching, breathing issues, intellectual disabilities, learning disorders, heart problems, scoliosis, endocrine issues, seizures, trouble swallowing, etc. |
| Treatment | Injection medications, anti-seizure drugs, blood pressure medicines, immunosuppressants, steroids, surgery, etc. |
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What You'll Learn
Muscular dystrophy is a group of inherited diseases
Muscular dystrophy (MD) is a group of more than 30 inherited genetic conditions that affect the functioning of skeletal muscles. These conditions are a type of myopathy, a disorder of the skeletal muscles. The symptoms of muscular dystrophy worsen over time, with muscles progressively degenerating and weakening. Many people with MD eventually lose the ability to walk and perform daily activities.
MD is caused by changes in the genes that make proteins needed to form healthy muscles. These gene changes are passed from parent to child and are inherited. In the majority of cases, the genetic mutation is inherited from one or both biological parents. There are three ways to inherit MD: recessive inheritance, dominant inheritance, and sex-linked (X-linked) inheritance. Recessive inheritance means that the mutated gene is inherited from both biological parents. Dominant inheritance means that only one parent needs to pass on the mutated gene for the child to develop the condition. Sex-linked inheritance occurs when a female parent carries the affected gene and passes it to her male child.
The symptoms of MD vary depending on the type but often include muscle weakness, pain, and stiffness. Some people with MD also experience breathing issues, intellectual disabilities, learning disorders, endocrine issues, and heart problems such as arrhythmia and heart failure. The symptoms of the most common type of MD, Duchenne muscular dystrophy (DMD), usually start in early childhood and include challenges with movement, such as late walking, frequent falls, and trouble running or jumping. Other types of MD, such as congenital muscular dystrophies (CMD), distal muscular dystrophy, and Emery-Dreifuss muscular dystrophy, may not present until adulthood or even middle age.
While there is no cure for MD, treatments such as medications, surgery, speech therapy, and respiratory care can help manage symptoms and slow the course of the disease.
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It causes muscle weakness and loss of muscle mass
Muscular dystrophy (MD) is a group of more than 30 genetic conditions that cause muscle weakness and other muscle-related symptoms. The symptoms of muscular dystrophy get worse over time. It can be present at birth, develop in childhood, or develop in adulthood, depending on the type. MD is caused by changes in the genes that make proteins needed to form healthy muscles. The body's cells don't work properly when a protein is changed, or the body doesn’t produce enough (or any) of the protein.
MD refers to a group of genetic diseases that cause progressive weakness and degeneration of skeletal muscles. These disorders vary in age of onset, severity, and the pattern of affected muscles. All forms of MD grow worse over time as muscles progressively degenerate and weaken. Many people with MD eventually lose the ability to walk. Some types of MD also affect the heart, lungs, gastrointestinal system, endocrine glands, spine, eyes, brain, or other organs.
The symptoms of Duchenne muscular dystrophy, the most common type of MD diagnosed in childhood, include challenges with movement, such as frequent falls, trouble rising from the floor, and difficulty running, jumping, or climbing stairs. Other symptoms include large calf muscles, muscle pain and stiffness, and learning or behaviour-related challenges. Emery-Dreifuss muscular dystrophy causes certain joints to become stiff, and muscles in the shoulders, upper arms, and calves to slowly waste and weaken. Some people with this type of MD develop heart conditions that can cause fainting.
Facioscapulohumeral muscular dystrophy (FSHD) usually starts with muscle weakness in the face, shoulders, and upper arms. When muscles around the eyes are affected, it can cause trouble fully closing the eyelids, leading to dryness of the eye. When the shoulders are affected, the shoulder blades might stick out like wings when the arms are raised. Limb-girdle muscular dystrophy (LGMD) affects the muscles in the upper arms, upper legs, shoulders, and hips. It causes progressive loss of muscle and the symmetrical weakening of voluntary muscles. Oculopharyngeal muscular dystrophy (OPMD) weakens the muscles in the eyelids and throat and can also cause muscle weakness in the limbs.
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The condition is caused by changes in genes
Muscular dystrophy is a group of more than 30 genetic disorders that cause progressive muscle weakness and wasting. It affects approximately 1 in 5,000 individuals worldwide and can manifest at any age, although it is most frequently diagnosed during childhood. The root cause of muscular dystrophy lies in mutations affecting genes responsible for muscle structure and function, leading to the gradual degeneration and loss of muscle fibres.
The human body contains thousands of muscle fibres, and each fibre contains cells surrounded by an outer membrane. Genes contain codes or recipes for proteins, which are important biological components in all forms of life. Muscular dystrophy is caused by changes in the genes that make proteins needed to form healthy muscles. When a gene is flawed or mutated, it affects the production of proteins, which in turn impacts muscle health.
One example of this is Duchenne muscular dystrophy (DMD), which is caused by a mutation on the X chromosome. This mutation results in an absence or deficiency of the muscle protein dystrophin. Dystrophin is essential for muscle health as it transfers the force of muscle contraction from the inside of the muscle cell to the cell membrane. Without dystrophin, muscles become more susceptible to injury during contraction, triggering inflammation and setting in motion a cascade of harmful effects.
Another example is Becker muscular dystrophy (BMD), which is also caused by a mutation in the DMD gene. Individuals with BMD genetic mutations produce partially functional dystrophin, which offers some protection to the muscles and results in milder symptoms compared to DMD.
In addition to inherited genetic mutations, some cases of muscular dystrophy are caused by spontaneous gene mutations that are not present in either parent of the affected individual but can be passed on to the next generation. These mutations can occur in several genes and possible genetic mutations, which is why there are so many different forms of muscular dystrophy with varying symptoms, onset timing, and progression rates.
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There are over 30 types of muscular dystrophy
Muscular dystrophy (MD) is a group of over 30 genetic conditions that cause muscle weakness and other muscle-related symptoms. MD is caused by changes in the genes that make proteins needed to form healthy muscles. The body's cells don't work properly when a protein is changed, or when the body doesn't produce enough of the protein. MD is not contagious and cannot be caused by injury or activity.
There are several types of MD, including Duchenne (DMD), Becker (BMD), Myotonic (DM), Limb-Girdle (LGMD), Facioscapulohumeral (FSHD), Congenital CMD, Distal DD, Oculopharyngeal OPMD and Emery-Dreifuss EDMD. The symptoms of these types vary, but they often include muscle weakness, stiffness, and pain, as well as breathing issues, intellectual disabilities, learning disorders, and heart problems.
Duchenne muscular dystrophy is the most common type, usually affecting young boys. It is caused by a mutation on the X chromosome and results in an absence of the muscle protein dystrophin. Symptoms of DMD usually begin before the age of five and include delayed growth, large calf muscles, muscle pain and stiffness, learning or behaviour-related challenges, and challenges with movement such as frequent falls, trouble running or jumping, and a waddling gait.
Becker muscular dystrophy is similar to DMD but tends to be milder and progresses more slowly. Symptoms of BMD usually appear later, even into adulthood.
Myotonic dystrophy is the most common type of MD diagnosed in adulthood, affecting men and women equally. People with myotonic dystrophy have difficulty relaxing their muscles after using them, and it can also affect the heart, lungs, and endocrine system.
Facioscapulohumeral muscular dystrophy (FSHD) most commonly affects muscles in the face, shoulders, and upper arms. Symptoms tend to appear before the age of 20, and it affects males and females equally.
Limb-girdle muscular dystrophy (LGMD) affects the muscles in the upper arms, upper legs, shoulders, and hips, and it can affect people of all ages and genders.
Oculopharyngeal muscular dystrophy (OPMD) weakens the muscles in the eyelids and throat, with symptoms usually appearing in the 40s or 50s.
Emery-Dreifuss muscular dystrophy (EDMD) mainly affects male children and young adults and causes muscle weakness in the shoulders, upper arms, and shins. It also affects the heart and usually progresses slowly.
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Symptoms include muscle pain, stiffness, and spasms
Muscular dystrophy (MD) is a group of over 30 genetic conditions that cause muscle weakness and other muscle-related symptoms. The symptoms of muscular dystrophy get worse over time. The condition is caused by changes in the genes that make proteins needed to form healthy muscles. The body's cells don't work properly when a protein is changed, or the body doesn’t produce enough (or any) of the protein.
Symptoms of muscular dystrophy include muscle pain, stiffness, and spasms. Muscle pain and stiffness are symptoms of Duchenne muscular dystrophy, which is the most common type of MD diagnosed in childhood. Duchenne muscular dystrophy usually becomes apparent during the toddler years, sometimes soon after an affected child begins to walk.
Myotonic dystrophy, the most common type of muscular dystrophy diagnosed in adulthood, also causes muscle pain and stiffness. This type of MD causes myotonia, or an inability to relax the muscles after they contract. The facial and neck muscles are often the first to be affected, followed by the muscles in the arms and legs.
Emery-Dreifuss muscular dystrophy (EDMD) causes certain joints to become stiff. Children with EDMD may walk on their toes due to stiff tendons in the heels and have trouble bending their elbows. EDMD affects the muscles in the shoulders, upper arms, and calves, causing them to slowly waste and weaken. EDMD also affects the heart.
Medications can help treat muscular dystrophy and reduce symptoms such as muscle spasms.
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Frequently asked questions
Muscular dystrophy is a group of more than 30 genetic conditions that cause muscle weakness and other muscle-related symptoms. The symptoms of muscular dystrophy get worse over time.
Muscular dystrophy is caused by a problem in the genes that control how the body keeps muscles healthy. This problem leads to a lack of a protein called dystrophin, which is necessary for typical muscle function.
Yes, muscular dystrophy can cause muscle spasms. It can also cause twitching and pain.
There is no cure for muscular dystrophy, but treatments can help manage the symptoms and slow the course of the disease. These include injection medications, anti-seizure drugs, blood pressure medicines, immunosuppressants, and steroids.
