General Description
The muscular dystrophy is a group of inherited disorders that weaken muscles and reduce their mass. These disorders result from mutations in genes that produce proteins essential for muscle health. Although there are different typesall affect the muscles at different times of life, from childhood to adulthood. There is no definitive cure, but symptoms can be controlled and progression can be slowed with treatments and therapies.
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01
Medical history
Pregnancy, birth and background information. -
02
Blood tests
Genetic testing to identify markers. -
03
Muscle biopsy
Microscopic analysis of a muscle sample. -
04
Electromyography (EMG)
Evaluate whether the weakness is due to muscle or nerve damage. -
05
Electrocardiogram (ECG)
It records the electrical activity of the heart.
Causes and Symptoms
| Treatment | Long-term outlook |
|---|---|
| - Treatment is personalized according to the patient's age, health status and medical history. | - Muscular dystrophy is progressive and requires lifelong care. |
| - The objective is to prevent deformities and maximize independence. | - Children may need a wheelchair around age 12 due to muscle weakness in the legs. |
| - There is no cure, but non-surgical approaches and, in some cases, surgery are used. | - Heart or lung problems may arise in adolescence or the second decade of life. |
| - Non-surgical interventions include physiotherapy, postural supports, orthopedic appliances, medications, nutritional and psychological counseling. | - Interdisciplinary teamwork is used to improve functionality and provide support to the family and the patient. |
| - Surgical interventions may be necessary to control scoliosis and maintain the ability to sit or stand. |
Classification of Muscular Dystrophy
In addition to Duchenne and Becker Muscular Dystrophy, there are other less common types of muscular dystrophy, each with its own particular characteristics. Some examples include:
- Myotonic Dystrophy: It affects people in adulthood.
- Facioscapulohumeral dystrophy: It involves muscle weakness in the face and arms.
These types of muscular dystrophy may have different rates of progression and specific symptoms.
Duchenne Muscular Dystrophy
It is an inherited disorder. It involves muscle weakness, which rapidly worsens. It may also be called pseudohypertrophic muscular dystrophy; Duchenne muscular dystrophy.
| Category | Description |
|---|---|
| Causes | Genetic disorder caused by a defective gene for dystrophin. It affects mainly males and is inherited by female carriers. |
| Symptoms | Muscle weakness from the legs and pelvis, progressive difficulty to move, respiratory and cardiac problems in advanced stages. |
| Tests and Examinations | Neurological examinations, genetic testing, electromyography, muscle biopsies and observation of deformities and atrophies. |
| Treatment | There is no cure. Steroids to slow the loss of strength, physical therapy, use of mobility devices and studies of gene therapies. |
| Prognosis and Complications | Disability progressively worsens, with cardiac and respiratory complications. Death usually occurs from pulmonary disorders. |
| Prevention | Genetic counseling recommended for families with a history. Prenatal genetic studies are accurate to detect the disorder. |
Types of Muscular Dystrophy Chart
| Type | Age of onset | Symptoms, rate of progression and life expectancy |
|---|---|---|
| Becker | From adolescence to early adulthood | Symptoms are almost identical to those of Duchenne, but less severe; progresses more slowly than Duchenne; middle-age survival. |
| Congenital | Birth | Symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shorter life expectancy. |
| Duchenne | From 2 to 6 years old | Symptoms include general muscle weakness and wasting; affects pelvis, upper arms and legs; eventually involves all voluntary muscles; survival beyond 20 years is rare. |
| Distal | From 40 to 60 years old | Symptoms include general muscle weakness and loss of the muscles of the hands, forearms and lower legs; progress is slow, rarely leading to total disability. |
| Emery-Dreifuss | From infancy to early adolescence | Symptoms include weakness and loss of shoulder, upper arm and chin muscles; joint deformities are common; progress is slow; sudden death from heart problems may occur. |
| Facioscapulohumeral Facioscapulohumeral | From infancy to early adulthood | Symptoms include facial muscle weakness and weakness with some loss of shoulders and upper arms; progression is slow with periods of rapid deterioration; life expectancy may be many decades after onset. |
| Limb-Girdle | Late childhood to middle age | Symptoms include weakness and wasting, first affecting the shoulder girdle and pelvic girdle; progress is slow; death is usually due to cardiopulmonary complications. |
| Myotonic | From 20 to 40 years old | Symptoms include weakness of all muscle groups accompanied by delayed relaxation of muscles after contraction; affects face, feet, hands and neck first; progression is slow, sometimes spanning 50 to 60 years. |
| Oculopharyngeal | From 40 to 70 years old | Symptoms affect the muscles of the eyelids and throat causing weakness of the throat muscles, which, over time, causes inability to swallow and emaciation due to lack of food; progress is slow. |
Related questions:
Are men or women more likely to be affected?
Men.
When does muscle weakness usually begin?
DMDBefore 5 years of age
DMBBetween 7 and 12 years old
Which muscles are generally the first to show weakness?
Muscles of the upper arms and upper legs
What other parts of the body may be affected?
Brain, throat, heart, diaphragm/chest muscles, stomach, intestines, and spine
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