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Muscular dystrophy (MD) is a group of more than 30 inherited diseases that cause progressive muscle weakness and degeneration of skeletal muscles. The diseases are caused by mutations in genes that are responsible for producing healthy muscle structure and function. These mutations lead to deficiencies in proteins, such as dystrophin, which are necessary for typical muscle function. The symptoms of muscular dystrophy vary in severity and typically worsen over time, affecting mobility and everyday tasks. While some types of muscular dystrophy are more common in boys, it can occur in both sexes and across all ages and races.
| Characteristics | Values |
|---|---|
| Definition | A group of more than 30 inherited diseases that cause [progressive weakness] and [loss of muscle mass] |
| Cause | [Genetic mutations] that interfere with the [production of proteins] needed for [healthy muscle function] |
| Diagnosis | [Physical exam], [neurological exam], [muscle exam], [creatine kinase blood test], [genetic tests], and [muscle biopsy] |
| Treatment | [Medications] and [therapy] to manage symptoms and slow the course of the disease |
| Age of Onset | Varies depending on the type of muscular dystrophy; can be [present at birth], develop in [childhood], [teenage years], or [adulthood] |
| Sex | Both males and females can be affected, but some types are more common in [boys] |
| Inheritance | Can be [inherited] from [one or both biological parents] or occur due to a [spontaneous mutation] |
| Progression | Symptoms [worsen over time] as muscles [degenerate] and [weaken] |
| Complications | [Trouble walking], [difficulty using arms], [breathing difficulties], [swallowing problems], [bone thinning], [scoliosis], and [cognitive and behavioural impairments] |
| Cure | Currently, there is [no cure] for muscular dystrophy |
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What You'll Learn
Muscular dystrophy is a group of inherited diseases
Muscular dystrophy (MD) is a group of inherited diseases that cause progressive weakness and degeneration of skeletal muscles. MD affects both sexes and all ages, races, and ethnicities. It is caused by mutations in genes responsible for healthy muscle structure and function, resulting in a lack of proteins necessary for typical muscle function. This leads to muscle fibres becoming damaged and leaking creatine kinase, a protein that indicates muscle damage. As the disease progresses, muscles in the diaphragm weaken, causing breathing difficulties, respiratory infections, and swallowing problems.
There are several ways to inherit muscular dystrophy, depending on the specific type: recessive inheritance, where the mutation is inherited from both biological parents; dominant inheritance, where the mutation is inherited from only one parent; and de novo mutation, where the mutation occurs spontaneously and is not inherited. The most common form of MD, Duchenne muscular dystrophy (DMD), is caused by a mutation on the X chromosome and primarily affects boys, although girls who carry the defective gene may show mild symptoms. Other types of MD include Becker MD, which is less severe and usually develops later in childhood; limb-girdle MD, which usually develops in late childhood or early adulthood and can be rapidly progressive; and oculopharyngeal MD, which typically develops in older adults and does not affect life expectancy.
The symptoms of MD vary depending on the specific type but generally include muscle weakness, muscle wasting, and coordination problems. Some people with MD experience bone thinning, scoliosis, cognitive and behavioural impairments, and respiratory issues. MD can also affect the heart, lungs, gastrointestinal system, endocrine glands, spine, eyes, brain, and other organs. While there is currently no cure for MD, medications and therapies can help manage symptoms and slow the progression of the disease. Support groups and organisations are also available to provide emotional support and advice for people living with MD and their caregivers.
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It causes progressive muscle weakness
Muscular dystrophy is a group of more than 30 genetic conditions that cause progressive muscle weakness and loss of muscle mass. The conditions affect muscle function and muscle-related symptoms, and they get worse over time. The symptoms vary depending on the type of muscular dystrophy, but the main symptom is progressive muscle weakness.
The disease occurs when certain genes involved in making proteins that protect muscle fibres are defective. Each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Most of these mutations are inherited, but in rare cases, a person may develop muscular dystrophy spontaneously. This is called a de novo mutation.
The muscle fibre membrane contains a group of proteins, known as the dystrophin-glycoprotein complex, that prevent damage when muscle fibres contract and relax. When this protective membrane is damaged, muscle fibres begin to leak the protein creatine kinase and take on excess calcium. This damages the muscle fibres and eventually causes them to die, leading to progressive muscle degeneration.
Some of the most common types of muscular dystrophy include:
- Myotonic: Characterised by an inability to relax muscles following contractions. Facial and neck muscles are usually the first to be affected.
- Facioscapulohumeral (FSHD): Muscle weakness typically begins in the face, hip, and shoulders.
- Congenital: This type affects boys and girls and is apparent at birth or before age 2.
- Limb-girdle: Hip and shoulder muscles are usually affected first.
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There are over 30 types of muscular dystrophy
Muscular dystrophy is a group of more than 30 genetic disorders that cause progressive muscle weakness and degeneration of skeletal muscles. The disorders vary in age of onset, severity, and the pattern of affected muscles. All forms of muscular dystrophy worsen over time as muscles progressively degenerate and weaken. Many people with muscular dystrophy eventually lose the ability to walk.
- Duchenne (DMD): The most common form of muscular dystrophy, Duchenne usually occurs in young boys and is caused by a mutation on the X chromosome. It results in the absence of the muscle protein dystrophin, leading to progressive weakness and muscle wasting.
- Becker (BMD): Caused by changes in the same gene as DMD but less severe and slower progressing. It usually appears around age 11 but can occur later, and people with BMD typically live into middle age or beyond.
- Myotonic (DM): Characterised by an inability to relax muscles following contractions. Facial and neck muscles are usually affected first, and people with this form often have long, thin faces, drooping eyelids, and swan-like necks. It can appear at any age and affects men and women equally.
- Limb-girdle (LGMD): Affects the muscles of the upper arms, upper legs, shoulders, and hips. There are more than 20 forms of LGMD, which can begin as early as age 2 and as late as age 40. It affects men and women equally.
- Facioscapulohumeral (FSHD): Muscle weakness typically begins in the face, hip, and shoulders. The shoulder blades may stick out like wings when the arms are raised. Onset usually occurs in the teenage years but can range from childhood to age 50. It affects both men and women, although men tend to be affected earlier and more severely.
- Congenital (CMD): Affects both boys and girls and is apparent at birth or before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.
- Distal (DD): Symptoms begin in adulthood, with weakness first appearing in the feet, hands, lower legs, and lower arms.
- Oculopharyngeal (OPMD): Symptoms usually begin after age 40, affecting the eyes and throat first.
These are just a few examples of the many types of muscular dystrophy, each with unique features, onset patterns, and affected muscle groups.
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It is caused by genetic mutations
Muscular dystrophy (MD) is a group of more than 30 genetic diseases that cause progressive weakness and degeneration of skeletal muscles. It is characterised by abnormal genes (mutations) that interfere with the production of proteins required for healthy muscle function. These mutations can occur in several genes, resulting in various forms of muscular dystrophy.
MD is typically inherited, with the majority of cases involving the inheritance of a genetic mutation from one or both biological parents. There are three main ways of inheriting muscular dystrophy: recessive inheritance, dominant inheritance, and sex-linked (X-linked) inheritance. In recessive inheritance, the mutated gene is inherited from both parents. Dominant inheritance requires inheritance from only one parent. Sex-linked inheritance occurs due to a mutation on the X chromosome, affecting males more than females since they have only one X chromosome.
Duchenne muscular dystrophy (DMD) is the most common form of MD, primarily affecting young boys due to its X-linked inheritance pattern. It is caused by a mutation in the dystrophin gene, resulting in a lack of functional dystrophin protein. Dystrophin is crucial for transferring the force of muscle contraction and maintaining muscle structure. Its absence leads to progressive muscle weakness and wasting, with symptoms often appearing during toddlerhood.
In rare instances, MD can also arise from de novo mutations, where the mutation occurs spontaneously and is not inherited. These spontaneous mutations can occur in individuals with no family history of MD.
Genetic tests can identify specific gene mutations linked to MD, aiding in diagnosis and understanding the inheritance patterns within families.
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There is no cure, but medication and therapy can help manage symptoms
Muscular dystrophy (MD) is a group of more than 30 genetic conditions that cause progressive weakness and degeneration of skeletal muscles. The symptoms of MD vary in age of onset, severity, and the pattern of affected muscles. MD is caused by mutations in genes responsible for healthy muscle structure and function, resulting in progressive muscle weakness and loss of muscle mass. While there is currently no cure for MD, medication and therapy can help manage symptoms and improve quality of life.
Treatment options for MD aim to control symptoms and may include medications, physical and occupational therapy, surgery, and assistive devices. Corticosteroids such as prednisone, deflazacort (Emflaza), and prednisolone can help improve muscle strength and delay the progression of certain types of MD. However, prolonged use of these drugs may lead to weight gain and weakened bones. Newer medications like eteplirsen and golodirsen have been specifically approved for treating certain types of MD. Heart medications such as ACE inhibitors and beta-blockers can be used if MD damages the heart.
Physical and occupational therapies are crucial for strengthening and stretching muscles, helping individuals maintain their movement function and mobility. Speech therapy can benefit those with swallowing difficulties, while respiratory care, including cough-assist devices and respirators, aids in breathing. Surgery may be required to relieve tension in contracted muscles or correct spine curvature (scoliosis). Assistive devices such as canes, braces, walkers, and wheelchairs can improve mobility and prevent falls.
While MD has no cure, ongoing medical advancements and clinical trials offer hope for improved treatments and symptom management. Individuals with MD should have access to a multidisciplinary team of specialists, including neurologists, physical medicine and rehabilitation experts, therapists, and other specialists, depending on their specific needs.
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