What is muscular dystrophy?
A muscular dystrophy is a group of inherited diseases that damage and weaken muscles over time. This damage and weakness are due to a lack of a protein called dystrophin, which is necessary for normal muscle function. The absence of this protein can cause problems with walking, swallowing, and muscle coordination.
It can occur at any age, but most diagnoses occur in childhood. Young boys are more likely to have this disease than girls. The outlook depends on the type and severity of symptoms. However, most people lose the ability to walk and eventually require a wheelchair. There is no known cure, but certain treatments can help. In some forms of the disease, the heart and other organs are also affected.
Types of muscular dystrophy
There are seven main types
It appears in middle age or later in childhood, and its shape and severity are determined in some way by the age at which it occurs. Certain types only affect men; Some people with DM enjoy a normal life expectancy with mild symptoms that develop very slowly. Others experience rapid and severe muscle wasting and weakness and die in their late teens or early 20s.
Symptoms of muscular dystrophy
The first symptoms appear on your face and neck. Among them are:
- Relax the muscles of the face, producing a slim and ugly appearance
- It is difficult to lift the neck because the neck is weak
- Hard to swallow
- Droopy eyelids or ptosis
- Early baldness on the front of the skin
- Poor vision, including cataracts
- Weight loss
- Increased sweating
This type of dystrophy can also cause impotence and testicular atrophy in men. In women, it can lead to irregular periods and infertility. The diagnosis of myotonic dystrophy is most common in adults in their 20s and 30s. The severity of symptoms can vary greatly. Some experience mild symptoms, while others have malignant symptoms that affect the heart and lungs.
Myotonic dystrophy: Myotonic dystrophy is also known as Steinert’s disease or myotonic dystrophy. This form of muscular dystrophy causes myotonia, which is the inability of the muscles to relax after they have contracted. Myotonia is specific to this type of muscular dystrophy.
Myotonic dystrophy can affect you:
- Facial muscles
- Central Nervous System
- Kidney glands
- Esophagus or gastrointestinal tract
Duchenne muscular dystrophy: This type is more common in children. Most of those affected were children. It is very rare for girls to develop this. features:
- Difficulty to walk
- Loss of reactions
- Problems standing
- Poor posture
- Thinning of the bones
- Scoliosis, which is an abnormal curve in your spine
- Mild intellectual impairment
- Difficulty breathing
- Swallowing problems
- lung weakness and heart weakness
People with Duchenne muscular dystrophy generally need a wheelchair before adolescence. Life expectancy for people with the disease is teens or 20 years.
Becker muscular dystrophy: Becker muscular dystrophy is similar to Duchenne muscular dystrophy but less severe. This type also mainly affects children. Muscle weakness occurs most often in the arms and legs, and symptoms appear between the ages of 11 and 25.
Other symptoms of Becker muscular dystrophy:
- Comes often
- Muscle cramps
- Difficulty getting up from the ground
Most people with the disease do not need a wheelchair until they are 30 years old or older, and a small percentage of people with the disease never do. Most people with Becker muscular dystrophy live to middle age or later.
Oculopharyngeal muscular dystrophy (OPMD): Oculopharyngeal muscular dystrophy causes weakness in the muscles of the face, neck, and shoulders. Other features:
- Eyelids are getting wet
- Difficulty swallowing
- Voice changes
- Eyesight problems
- Heart problems
- Difficulty to walk
OPMD occurs in both men and women. People are usually diagnosed between the ages of 40 and 50.
Distal muscular dystrophy: Distal muscular dystrophy is also known as distal myopathy. Affects the muscles in you:
It also affects the respiratory system and heart muscle. Symptoms progress slowly and include loss of fine motor skills and difficulty walking. Most men and women between the ages of 40 and 60 have distal muscular dystrophy.
Emery-Dreifuss muscular dystrophy: Emery-Dreifuss muscular dystrophy affects boys more than girls. This type of muscular dystrophy usually begins in childhood. features:
- Weakness in the muscles of the upper arm and lower leg
- Respiratory problems
- Heart problems
- Relax the muscles of the spine, neck, ankles, knees, and elbows
Most people with Emery-Dreifuss muscular dystrophy die of heart or lung and lung failure in adolescence.
Facioscapulohumeral (FSHD): Fascioscopic ephemeral muscular dystrophy (FSHD) is also known as the Landouzy-Dejerine disease. This type affects the muscles of the face, shoulders, and upper arms. FSHD can cause:
- Difficulty chewing or swallowing
- Sloping shoulders
- The curved shape of the mouth.
- The wing shape of the shoulder blades.
People with low levels of FSHD have breathing and hearing problems.
FSHD develops slowly. Symptoms usually appear in adolescence, but may not appear until age 40. Most people with this condition live full lives.
Causes and risk factors of muscle dystrophy
It is caused by defects in certain genes, the type of which is determined by an abnormal gene. In 1986, researchers discovered the gene that, when faulty or defective, causes Duchenne muscular dystrophy. In 1987, the muscle protein associated with this gene was named dystrophin.
Duchenne muscular dystrophy occurs when that gene does not produce dystrophin. Becker muscular dystrophy occurs when a different mutation in the same gene leads to some dystrophin, but it is inappropriate or deficient. Scientists have discovered and are exploring genetic defects that cause other types.
It is a hereditary disease often known as X-linked disorders or genetic diseases that mothers can pass to their children, even if the mother is not bedridden.
Males have one X chromosome and one Y chromosome. Females have two X chromosomes. Therefore, for a girl to develop muscular dystrophy, both X chromosomes must carry the defective gene, a very rare event, because her carrier mother (a defective X chromosome) and his father must have muscular dystrophy (since males only have one X chromosome). Y chromosome).
Diagnosis of muscle dystrophy
To get started, your doctor will examine your child and ask questions about medical and family health history. Muscle dystrophy can be diagnosed using various tests. These may include:
Muscle biopsy: A small piece of muscle tissue is removed and examined to confirm the diagnosis or to rule out another muscle disease.
Genetic (DNA) testing: Genes that pass through families can cause certain types. A blood test can determine if you or your baby has the gene.
Neurological tests: Various tests are performed to check the nervous system function, reactions, and coordination. An example is the study of nerve conduction, also known as nerve function testing or electromyography (EMG).
Treatment for muscle dystrophy
There is currently no treatment, but treatments can help maintain your symptoms and slow the progression of the disease. Treatments depend on your symptoms.
Treatment options: Corticosteroid medications, which help strengthen muscles and slow muscle wasting.
- Auxiliary ventilation if respiratory muscles are affected
- Medicines for heart problems.
- Surgery to correct your muscle contraction
- Surgery to repair cataracts
- Surgery to treat scoliosis
- Surgery to treat heart problems.
The treatment has proven to be effective. You can strengthen your muscles and maintain your range of motion using physical therapy. Occupational therapy can help you:
- Be more independent
- Improve your coping skills
- Improve your social skills
- Get access to community services