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Muscular dystrophy (MD) is a group of more than 30 genetic conditions that cause progressive muscle weakness and degeneration of skeletal muscles. The symptoms of MD vary depending on the type, but they generally get worse over time and can lead to an increasing level of disability. MD can be present at birth, develop in childhood, or occur in adulthood. The age of onset can vary significantly depending on the specific type of MD and the affected muscles. For example, Duchenne muscular dystrophy typically starts in early childhood, while Emery-Dreifuss muscular dystrophy often affects children around the age of 10, and Limb-girdle muscular dystrophy usually develops in late childhood or early adulthood.
| Characteristics | Values |
|---|---|
| Type of muscular dystrophy | Emery-Dreifuss, Limb-girdle, Facioscapulohumeral (FSHD), Oculopharyngeal, Distal, Congenital, Duchenne, Becker, Myotonic |
| Age of onset | Varies depending on type, can be at birth, early childhood, teens, 20s, 40s, 50s, or 60s |
| Symptoms | Muscle weakness, movement issues, heart problems, breathing issues, intellectual disabilities, learning disorders, scoliosis, swallowing issues, etc. |
| Diagnosis | GP referral to hospital for further tests, including blood and urine tests, imaging, genetic tests, etc. |
| Treatment | No cure, but treatments include medicine, surgery, physiotherapy, mobility assistance, support groups, etc. |
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What You'll Learn
- Duchenne muscular dystrophy: Symptoms start in early childhood, including movement challenges
- Emery-Dreifuss muscular dystrophy: Stiff joints, tendons, and muscle weakness. Usually starts around age 10
- Facioscapulohumeral muscular dystrophy: Muscle weakness in the face, shoulders, and upper arms
- Limb-girdle muscular dystrophy: Progressive loss of muscle, especially around the shoulders and hips
- Oculopharyngeal muscular dystrophy: Weakens muscles in the eyelids and throat
Duchenne muscular dystrophy: Symptoms start in early childhood, including movement challenges
Muscular dystrophy refers to a group of more than 30 genetic conditions that cause muscle weakness and other muscle-related symptoms. The symptoms of muscular dystrophy vary depending on the type, but they generally get worse over time. It can be present at birth, develop in childhood, or occur in adulthood.
Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy, usually affecting young boys. The average age of diagnosis is around four years old, and symptoms can include delays in early developmental milestones such as sitting, walking, and talking. DMD is caused by dystrophin abnormalities in the brain, which can also cause learning problems in areas such as attention focusing, verbal learning, and memory.
Children with DMD may experience muscle weakness, particularly in the legs, and enlarged calf muscles. They may also seem clumsy and fall often. As the disease progresses, individuals with DMD may have trouble walking, running, jumping, or climbing stairs and may develop a waddling gait. The muscles of the arms and shoulders can also be affected, making daily activities more challenging.
Over time, DMD can impact the muscles involved in breathing, and some individuals may require assistance from devices that help keep the airways open or support breathing. Additionally, DMD can cause conduction abnormalities in the heart, and all patients older than 18 exhibit symptoms of cardiomyopathy, a condition characterized by extensive scarring of the heart tissue.
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Emery-Dreifuss muscular dystrophy: Stiff joints, tendons, and muscle weakness. Usually starts around age 10
Muscular dystrophy is a group of rare genetic diseases that cause progressive weakness and degeneration of skeletal muscles. There are over 30 types of muscular dystrophy, and the age of onset varies depending on the type. Some forms of muscular dystrophy are present at birth, while others develop in childhood or adulthood.
One type of muscular dystrophy is Emery-Dreifuss muscular dystrophy (EDMD), a rare and inherited form of the disease that usually shows up at about 10 years of age. EDMD causes weakness in the shoulders, upper arms, and calves and results in stiff joints that are difficult to move (a condition known as contractures). It can also lead to breathing problems due to weakened breathing muscles and social and emotional challenges as children may feel isolated from their peers.
EDMD is caused by mutations in one of three genes that produce proteins in the membrane surrounding the nucleus of each muscle cell. These mutations can be passed from parent to child, and the disease mainly affects boys, although girls can also be carriers of the mutation and exhibit some symptoms. The disease progresses slowly, and while muscle weakness may not become a source of difficulty until later in life, cardiac problems are usually detectable by age 20.
There is currently no cure for EDMD, but treatment focuses on supportive management of the condition. Physical therapy is a key part of managing EDMD, and range-of-motion and stretching exercises can help limit problems with stiff joints. In some cases, surgery may be required to release contractures. Additionally, medical bracelets can be worn to warn others of the underlying condition in case of an emergency.
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Facioscapulohumeral muscular dystrophy: Muscle weakness in the face, shoulders, and upper arms
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which the muscles of the face, shoulder blades, and upper arms are among the most affected. The condition's long name comes from the Latin words and medical terms for the affected areas: "facies" (face), "scapula" (shoulder blade), and "humerus" (upper arm). FSHD is the third most common type of muscular dystrophy, with an estimated prevalence of about 4 cases per 100,000 individuals in the US.
The signs and symptoms of FSHD usually appear in adolescence, but the onset and severity of the condition vary widely. Milder cases may not become noticeable until later in life, while rare severe cases become apparent in infancy or early childhood. Weakness involving the facial muscles or shoulders is usually the first symptom of this condition. Facial muscle weakness can make it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling. When muscles around the eyes are affected, individuals may have trouble fully closing their eyelids, leading to dryness of the eyes and other eye problems.
In addition to the initial symptoms, FSHD can cause further complications. Weak shoulder muscles can cause the shoulder blades to protrude from the back, a sign known as "scapular winging." Weakness in the muscles of the shoulders and upper arms can also make it difficult to raise the arms over the head or throw a ball. Over time, the muscle weakness associated with FSHD worsens slowly and may spread to other parts of the body, including the lower legs, hips, and pelvis. This can lead to a condition called "foot drop," which affects walking and increases the risk of falls.
FSHD has been associated with mild high-tone hearing loss and abnormalities in the retina, the light-sensitive tissue at the back of the eye. While rare, FSHD can also affect the heart muscle in some cases, as well as the muscles needed for breathing. Researchers have identified two types of FSHD: type 1 (FSHD1) and type 2 (FSHD2). These types share the same signs and symptoms but differ in their genetic causes. FSHD is caused by genetic changes involving the long (q) arm of chromosome 4, specifically in the silencing of the DUX4 gene.
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Limb-girdle muscular dystrophy: Progressive loss of muscle, especially around the shoulders and hips
Limb-girdle muscular dystrophy (LGMD) is a group of disorders with many subtypes categorized by the affected disease gene and inheritance. LGMD usually affects the proximal muscles around the hips and shoulders. The shoulder girdle is the bony structure that surrounds the shoulder area, and the pelvic girdle is the bony structure surrounding the hips. The unifying features of the LGMDs are the weakness and atrophy of the limb-girdle muscles.
The symptoms of LGMD vary in age of onset, severity, and the pattern of the affected muscles. The age at which symptoms appear, and the speed and severity of disease progression, can vary. LGMD can begin in childhood, adolescence, or adulthood. When LGMD begins in childhood, the progression is usually faster and the disease more disabling. When the disorder begins in adolescence or adulthood, it is generally not as severe and progresses more slowly. The course is usually one of slowly progressive, mostly symmetric weakness, with the exception of a few types with rapid progression or asymmetric weakness.
The symptoms of LGMD include progressive muscle degeneration, muscle weakness, and other muscle-related issues. Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows.
As the condition progresses, people with LGMD may eventually require wheelchairs for mobility. Weakness in the shoulder area may make reaching over the head, holding the arms outstretched, or carrying heavy objects difficult. Some people find it harder to type on a computer or other keyboard and may even have trouble feeding themselves. Some LGMD subtypes are also characterized by additional symptoms, such as weakness of the heart muscle (cardiomyopathy) and/or abnormal transmission of signals that regulate the heartbeat (conduction abnormalities or arrhythmias). Some subtypes also involve the muscles used for breathing, and for this reason, respiratory function, along with cardiac function, should be monitored regularly.
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Oculopharyngeal muscular dystrophy: Weakens muscles in the eyelids and throat
Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disorder that causes muscle weakness, primarily in the eyelids and throat. It is characterised by progressive muscle disease (myopathy) that affects the upper eyelids and the throat. It is estimated that OPMD affects between 3,000 and 30,000 people in the United States, with a higher prevalence among Bukharan Jewish people of Israel and French-Canadian people of Quebec.
The symptoms of OPMD usually appear in adulthood, most often between the ages of 40 and 60. However, the defective gene that causes OPMD is present at birth. The two most common initial symptoms of OPMD are drooping of the upper eyelids (ptosis) and difficulty swallowing (dysphagia). Drooping eyelids can cause visual impairment and may require special glasses or surgery to raise the eyelids. The swallowing problems can increase the risk of aspiration pneumonia, a potentially life-threatening complication.
As the disease progresses, OPMD may affect additional muscles, including those in the neck, shoulders, arms, and legs. Weakness in the leg muscles may eventually lead to difficulty walking, and some individuals may require a wheelchair. Other symptoms of OPMD include double vision (diplopia), impaired vision, limited eye movement, and facial weakness.
Treatment for OPMD focuses on managing the swallowing problems, eyelid drooping, and limb weakness. Procedures such as cricopharyngeal myotomy can help relax the throat muscles, making it easier to swallow. Changing the texture of foods or using a feeding tube can also assist with swallowing difficulties. While OPMD does not typically affect lifespan, it is important to seek medical advice and treatment to manage the symptoms and prevent complications.
In summary, oculopharyngeal muscular dystrophy is a rare genetic condition that primarily affects the eyelids and throat muscles, causing a range of symptoms that typically develop in adulthood and progress slowly over time. Treatment options are available to manage the symptoms and improve quality of life for individuals with OPMD.
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Frequently asked questions
Duchenne muscular dystrophy usually starts in early childhood.
Becker muscular dystrophy tends to start later in childhood and is less severe than Duchenne muscular dystrophy.
Emery-Dreifuss muscular dystrophy usually starts around age 10 and mainly affects boys.
Limb-girdle muscular dystrophy usually starts in late childhood or early adulthood, but it can also develop in a person's teens or 20s.
