Muscular Dystrophy
Are there different types of muscular dystrophy? All the information about the causes, symptoms, and potential cures of this degenerative muscle disease.
Symptoms and Causes
Muscular dystrophy encompasses various diseases that cause muscles to progressively weaken and lose mass gradually. This condition is caused by a mutation in the genes responsible for producing the proteins that form the muscles.
This disease, which is rare among the population, is divided into different types depending on its characteristics. Some of the most common types include:
- Myotonic Dystrophy: This is the most common form. It is usually diagnosed between the ages of 20 and 30 and causes difficulty in relaxing the muscles after contraction.
- Duchenne Muscular Dystrophy (DMD): This is one of the most severe types. It typically manifests in children aged 3 to 5 years. Due to its rapid progression, it is common for a person to be unable to walk by the age of 12, and even experience respiratory problems. The current life expectancy is up to 30 or 40 years.
- Becker Muscular Dystrophy (BMD): Similar to the above, but its progression is slower and the symptoms are less severe. It is usually diagnosed between the ages of 5 and 15.
- Steinert's Disease: In addition to affecting the muscles, other organs in the body are also deteriorated, leading to respiratory issues, arrhythmias, baldness, cataracts, or hypogonadism.
- Facioscapulohumeral Dystrophy (FSHD): As the name suggests, it affects the face, shoulders, and upper limbs. Consequently, individuals have difficulty blinking or smiling. It usually manifests in adulthood.
- Limb-Girdle Muscular Dystrophy: This typically begins during adolescence and, regardless of how quickly it progresses, it leads to severe disability within 20 years of diagnosis.
Symptoms
Some symptoms vary depending on the type of dystrophy the patient has, but some are common. The most notable are:
- Muscle weakness and pain
- Muscle atrophy
- Stiffness
- Growth delay
- Joint limitations
Causes
Muscular dystrophies are caused by a genetic alteration that results in a deficiency of the proteins that generate muscles. As a consequence, the tissues that form do not perform their usual functions.
Risk Factors
Muscular dystrophy can affect all types of people, although some types are more common in males.
Complications
The degeneration of the muscles, over time, usually leads to problems such as difficulty walking, difficulty moving the arms, muscle contractures, breathing difficulties, heart deficiencies, swallowing complications, or scoliosis.
The progression of this disease leads to premature death.
Prevention
As it is a genetic condition, muscular dystrophy cannot be prevented.
Which Doctor Treats Muscular Dystrophy?
Neurology specialists diagnose muscular dystrophy. The treatment also involves specialists in physical medicine and rehabilitation.
Diagnosis
To diagnose muscular dystrophy, the symptoms are analyzed, the patient's medical history is reviewed, and additional tests are conducted, such as:
- Electromyography: A needle electrode is inserted into the muscle to assess electrical activity.
- Genetic tests: To detect if there are mutations in the genes responsible for producing muscle tissue.
- Muscle biopsy: When in doubt, analyzing the tissue in the laboratory allows for differentiating between a disease affecting the muscles or dystrophy.
- Electrocardiogram or echocardiogram: To check the heart's functioning in individuals already diagnosed with the disease.
Treatment
Currently, there is no treatment for muscular dystrophy. Typically, specialists focus on alleviating symptoms, improving the quality of life, and maintaining the patient's independence for as long as possible.
The most effective medications are corticosteroids to slow down the degeneration of muscles, as well as immunosuppressants and anticonvulsants. Rehabilitation and physiotherapy help maintain muscle and skeletal health.
