guide
What are hereditary muscle diseases? Is it a common problem? What are the most important treatments used? To get the answer, continue reading.
Hereditary muscle diseases are rare, and occur because the disease is inherited across generations from one parent through one of the chromosomes. For more, continue reading:
What are hereditary muscle diseases?
Genetic muscle diseases affect the muscles and cause problems in the coordination of muscle movement, and problems in the contraction of the skeletal muscles responsible for involuntary movement of the body.
The child is born with these diseases or develops them later during childhood, with problems and delays in development.
There are many different types of the disease that share characteristics, such as loss of muscle coordination and weakness. Here are some types of these diseases:
1. Central Core disease of muscles
This type causes general muscle weakness and problems with development and growth. Some patients with this type develop a reaction called malignant hyperthermia after exposure to general anesthetics.
2. Centronuclear Myopathy
It is a rare disease that causes respiratory problems and muscle impairment in several areas, such as: the face, arms, legs, and eyes.
3. Nemaline myopathy
This type is the most common from birth, and causes respiratory problems, problems supplying food to the body, and multiple weakness of the body''s muscles.
4. Multiminicore disease
This type has other subtypes, and also causes weakness in several muscles, such as the arm and leg muscles, and a lateral curvature of the spine.
Symptoms of hereditary muscle diseases
Symptoms vary depending on the type of infection. Here are the most prominent symptoms
1. Muscle weakness
Some diseases cause weakness, as follows
Severe and general muscle weakness, which affects breathing and food swallowing.
Episodes of muscle weakness and stiffness, which are mild and do not move between muscles, occur temporarily.
Weakness in the facial muscles that causes them to lack facial expressions.
2. Respiratory problems
X-linked myopathy and tubulomyopathy cause weakness of the respiratory muscles that control the lungs and increase the risk of pneumonia.
3. Problems with the vascular system
Genetic muscle diseases do not cause any defect in the heart muscles, but the defect may occur indirectly by the body not receiving a sufficient amount of oxygen due to pulmonary dysfunction, which causes heart problems.
4. Malignant hyperthermia
Patients with central segmentopathy are at risk of developing malignant hyperthermia, due to a deficiency in ion channels.
It may also happen when undergoing surgery and exposure to anesthesia as a side effect.
5. Other symptoms
There are other common symptoms such as
Poor coordination of muscle movement.
Delayed motor skills.
Noticeable weakness in the face.
Droopy eyelids.
Muscle cramps.
The reason behind genetic muscle diseases
It is rare and is caused by genetic mutations. Each type of disease is characterized by a specific genetic mutation different from the other, with which the doctor can differentiate between diseases, while infection may occur due to several mutations at once, and specific types are linked to the transmission of the disease via the X chromosome, which has a recessive or dominant trait that it carries for the disease.
Diagnosis of hereditary muscle diseases
There are several methods that doctors use for diagnosis, here are the most important
Magnetic resonance imaging.
Clinical evidence.
Histological evidence that appears after a muscle biopsy.
Whole genome sequencing examination.
Electromyography, which measures the electrical activity of muscles.
Treatment of hereditary muscle diseases
There is no treatment that targets the gene responsible for causing the disease, and research into using gene therapies is still ongoing.
The most important treatment used is patient care with ventilator assistance for patients with weak respiratory muscles, and the use of a feeding tube or nutritional therapy for patients who have facial muscle weakness and have difficulty eating normally.
It is recommended to follow stretching and stretching exercises for patients who suffer from foot musculopathy, and for those who suffer from deformity of the spinal muscles, it is recommended to adhere to specific exercises.
It should be noted that the decision to perform surgery requires reviewing the anesthesiologist, respiratory system, and cardiologist for fear of the resulting complications.
Do hereditary muscle diseases develop?
Congenital disorders do not cause the death of muscles, but rather disrupt their normal functioning. It does not get worse with age because there is a chance that muscle strength will improve with age.
Prevention of hereditary muscle diseases
The best thing that medicine can offer you if you are at risk of giving birth to a child with myopathy is to obtain genetic counseling before preparing for pregnancy, so that the doctor can inform you of the possibility of giving birth to a child with myopathy.
