Myotonic dystrophy is a genetic disease also known as Steinert's disease, characterized by the difficulty in relaxing the muscles after a contraction. Some individuals with this disease find it difficult to loosen a doorknob or interrupt a handshake, for example.
Myotonic dystrophy can manifest itself in both sexes, being more frequent in young adults. The most affected muscles include those of the face, neck, hands, feet and forearms.
In some individuals it can manifest in a severe way, compromising muscle functions, and presenting a life expectancy of only 50 years, while in others it can manifest in a mild way, which manifest only a muscle weakness.
Types of myotonic dystrophy
Myotonic dystrophy is divided into 4 types:
- Congenital: Symptoms appear during pregnancy, where the baby has little fetal movement. Soon after birth, the child manifests breathing problems and muscle weakness.
- Infantile: In this type of myotonic dystrophy, the child develops normally in the first years of life, manifesting the symptoms of the disease between 5 and 10 years of age.
- Classical: This type of myotonic dystrophy manifests itself only in adulthood.
- Mild: Individuals with mild myotonic dystrophy have no muscle impairment, only a mild weakness that can be controlled.
The causes of myotonic dystrophy are related to genetic alterations present on chromosome 19. These alterations can increase from generation to generation, resulting in the most severe manifestation of the disease.
Symptoms of myotonic dystrophy
The main symptoms of myotonic dystrophy are:
- Muscle atrophy;
- Frontal baldness;
- Weakness;
- Mental retardation;
- Difficulties to feed;
- Difficulty breathing;
- Waterfalls;
- Difficulties to relax a muscle after a contraction;
- Difficulties to speak;
- Somnolence;
- Diabetes;
- Infertilities;
- Menstrual disorders.
Depending on the severity of the disease, the stiffness caused by chromosomal changes can compromise several muscles, leading the individual to death before the age of 50. Individuals with the mildest form of this disease have only muscle weakness.
The diagnosis is made through observation of symptoms and genetic tests, which detect changes in chromosomes.
Treatment for myotonic dystrophy
Symptoms can be alleviated with the use of medications such as phenytoin, quinine and nifedipine that decrease muscle stiffness and pain caused by myotonic dystrophy.
Another way to promote the quality of life of these individuals is through physical therapy, which provides a better range of movement, muscle strength and body control.
Treatment for myotonic dystrophy is multimodal, including medication and physical therapy. Medicines include Phenytoin, Quinine, Procainamide or Nifedipine which relieve muscle stiffness and pain that are caused by the disease.
Physiotherapy aims to improve the quality of life of patients with myotonic dystrophy, providing increased muscle strength, range of motion and coordination.
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