Muscle diseases (myopathies) are diseases that disrupt the structure or functioning of muscle cells, the units of muscle tissue that provide movement. They can occur at any age, from infancy to old age.
There are many types of muscle disease and many subtypes. Variables such as the genes that cause the disease, the muscles affected, the age at which symptoms first appear and the rate of disease progression are used to determine these types.
To date, there are around 500 muscle diseases that have been identified and recognized but whose exact cause remains unexplained. Most muscle diseases are inherited, i.e. hereditary. In this case, a genetic defect in a person's constitution disrupts the structure or function of the muscle cell. Inherited muscle diseases mostly affect infants, children or adolescents and most of them have no known treatment. A very small proportion are acquired, acquired muscle diseases.
What are the Symptoms of Muscle Disease?
In most muscle diseases, symptoms begin to appear in childhood or adolescence-teenage years.
Common symptoms
- Difficulty walking, frequent falls
- Weak muscles, muscle thinning
- Muscle cramps
- Difficulty standing up, climbing stairs, running or jumping
- Walking on tiptoes
- Falling and sagging eyelids
- Respiratory or swallowing distress
- Vision problems, double vision
- Weakness in facial muscles, mimic and chewing muscles
What are the Diagnostic Methods for Muscle Disease?
For the diagnosis, your doctor will first perform a physical examination. Muscle strength, reflexes and coordination tests help to rule out other diseases related to the nervous system. The patient's family medical history is then questioned in detail. Common investigations for diagnosis:
Blood tests In muscle diseases caused by muscle breakdown, detailed blood tests such as the level of muscle breakdown enzymes (such as CK, CK-MB, AST, ALT), blood count, blood electrolyte levels are performed.
Electroneuromyography (ENMG): The electrical activity of the nerves in the arms and legs is measured. A needle electrode is used to examine the images of the muscles during contraction and relaxation.
Muscle biopsy A small piece of muscle tissue is taken. This is examined in the laboratory to determine which proteins are missing or damaged. It helps to determine the type of muscle disease.
Electrocardiogram (ECG): Measures electrical signals from the heart and determines how fast the heart beats and whether it has a healthy rhythm.
Other imaging techniques: Imaging methods such as MRI and ultrasound, which show the quality and quantity of muscle in the body, can also be used to diagnose muscle diseases.
Genetic screening tests: Finding the genes that cause muscle disease. Genetic tests are not only helpful in diagnosis, but are also important for people who are planning to start a family or who have a family history of the disease. Discussing the meaning of genetic test results with a specialist doctor or genetic counselor is of great importance for the health of the children to be born.
Muscular Dystrophy (Muscular Dystrophy) Inheritance
Muscular dystrophy is a group of genetic diseases that cause progressive weakness and deterioration of muscles. Muscular dystrophy is caused by mutations in proteins that form the building blocks of muscles. These mutations prevent muscles from growing and repairing normally.
The inheritance of muscular dystrophy varies depending on the type of disease. Duchenne muscular dystrophy, one of the most common types of muscular dystrophy, is inherited in a recessive manner linked to the X chromosome. This causes the disease to occur only in boys. Girls can be carriers for the disease, but they usually do not show any symptoms. About 30% of Duchenne muscular dystrophy cases are caused by genetic mutations. These mutations can occur in the embryo or in the egg. Other types of muscular dystrophy can be inherited as autosomal dominant or recessive.
Muscle diseases can be inherited or acquired after birth. Inherited muscle diseases are caused by genetic mutations, while acquired muscle diseases can be caused by trauma, infection, medication or other health problems.
How does muscle weakness manifest itself in muscle diseases?
Muscle weakness can be seen in muscle diseases in the following ways:
- Muscle pain
- Muscle cramps
- Muscle swelling
- Muscle thinning
- Difficulty walking
- Difficulty climbing stairs
- Difficulty lifting arms
- Difficulty swallowing
- Difficulty breathing
Treatment of muscle diseases depends on the type and cause of the disease. Some muscle diseases are incurable, but treatments can help slow disease progression and improve quality of life.
How to recognize muscle disease in children?
Muscle disease in children is a group of diseases that cause weakness, weakness and thinning of the muscles. These diseases can be inherited or acquired.
Symptoms of muscle disease in children vary depending on the type and cause of the disease. However, here are some common symptoms that can be suspected in children with muscle disease:
- Difficulty walking or climbing stairs
- Difficulty getting up from a seated position
- Difficulty lifting arms
- Weakness or weakness in muscles
- Pain or cramping in the muscles
- Swelling or thinning of the muscles
- Difficulty swallowing
- Difficulty breathing
It is important for people with symptoms of muscle disease in children to consult a doctor. The doctor can diagnose muscle disease by assessing the child's history, physical examination and laboratory tests.
Laboratory tests used in the diagnosis of muscle disease in children include the following:
Kan testleri: Kasların yapısını ve işlevini değerlendirmek için kullanılan kan testleri.
Kas biyopsisi: Kas dokusunun incelenmesi için yapılan bir işlem.
Genetik testler: Kas hastalıklarına neden olan gen mutasyonlarını tespit etmek için yapılan testler.
What are the Treatment Methods for Muscle Disease?
There is no definitive treatment for muscle diseases. Treatments that can reduce symptoms and improve the patient's quality of life are applied.
Physical Therapy Different exercises are used to keep the muscles strong and flexible.
Speech therapy: Patients with weak tongue and facial muscles can be taught easier ways to speak with speech therapy.
Respiratory therapy: Patients who have difficulty breathing due to muscle weakness are shown ways to facilitate breathing or the use of respiratory support machines.
Medicines that suppress the body's immune system: Medicines in this group can slow down the damage to muscle cells.
Muscle Disease Rehabilitation
Muscle disease rehabilitation is a treatment process designed to improve muscle strength, endurance and range of motion. Muscle diseases can cause muscles to weaken, deteriorate or decrease. This can make it difficult to do everyday activities.
The aims of muscle disease rehabilitation are:
- Increase muscle strength and endurance
- Improving the range of motion of the muscles
- Increasing mobility and independence
- Prevent complications
Applications in Muscle Disease Rehabilitation
Fizik tedavi: Fizik tedavi, kasların güçlendirilmesi ve esnetilmesi için egzersizler içerir.
Kas güçlendirme egzersizleri: Kas güçlendirme egzersizleri, kasların gücünü ve dayanıklılığını artırır.
Germe ve esneme egzersizleri: Germe ve esneme egzersizleri, kasların hareket açıklığını iyileştirmeye yardımcı olur.
Masaj: Masaj, kasların ağrısını ve gerginliğini azaltmaya yardımcı olabilir.
Elektroterapi: Kasların kasılmasını uyarmak için elektrik akımı kullanır.
Hidroterapi: Suyun kaldırma kuvvetini kullanarak kasları güçlendirmeye ve esnetmeye yardımcı olur.
Cerrahi: Bazı durumlarda, kasların zayıflamasını veya bozulmasını düzeltmek için ameliyat gerekebilir.
Kas hastalığı rehabilitasyonu, hastanın yaşına, bireysel ihtiyaçlarına, hastalığın ciddiyetine, genel sağlık durumuna ve yaşam tarzına göre uyarlanır.
Frequently Asked Questions About Muscle Disease
What is the most common muscle disease?
The most common muscle disease is Duchenne Muscular Dystrophy (DMD). DMD is an inherited disease caused by a mutation in a gene on the X chromosome. It disrupts the protein production of muscle fibers, causing muscles to weaken and deteriorate. DMD is much more common in men than in women.
Which tests are used to diagnose muscle disease?
- Physical examination
- Blood tests
- EMG (electromyography)
- Genetic tests
- Muscle biopsy
What happens if muscle disease is not treated?
Kas hastalığı tedavi edilmezse, kasların zayıflaması ve bozulması daha da ilerler. Bu, hareket kısıtlılığına, engelliliğe hatta ölüme yol açabilir.
Hareket kısıtlılığı: Kasların zayıflaması, yürüme, merdiven çıkma, yemek yeme ve giyinme gibi günlük aktiviteleri yapmayı zorlaştırabilir.
Engellilik: Kasların zayıflaması ve bozulması, bazı durumlarda tekerlekli sandalyeye veya diğer yardımcı cihazlara ihtiyaç duyulmasına neden olabilir.
Which diseases cause muscle loss?
Duchenne musküler distrofi (DMD): DMD, kalıtsal bir kas hastalığıdır. Kas liflerinin protein üretimini bozarak kasların zayıflamasına ve bozulmasına neden olur.
Miyotonik distrofi: Miyotonik distrofi, kalıtsal veya edinilmiş olabilen bir kas hastalığıdır. Kasların kasılması ve gevşemesi ile ilgili bir problemdir.
Polimiyozit: Polimiyozit, kaslarda iltihaplanmaya neden olan bir hastalıktır.
Miyastenia gravis: Miyastenia gravis, kasların zayıflamasına ve yorgunluğuna neden olan bir hastalıktır.
Spinal musküler atrofi (SMA): SMA, kalıtsal bir kas hastalığıdır. Omurilikte bulunan motor sinir hücrelerinin kaybına neden olur.
İnflamatuar miyozit: İnflamatuar miyozit, kaslarda iltihaplanmaya neden olan bir hastalıktır.
