Your doctor may have told you that you may have a condition called myopathy. It's normal for a lot of questions to come to your mind when you hear that. What exactly is myopathy? Is it something to be afraid of? Is there a treatment for it? Let's talk about it simply and clearly.
Simply put, what is myopathy?
Myopathy is a general name given to a group of diseases that affect the skeletal muscles of our body. These diseases damage and weaken the muscle fibers in our muscles. This condition can be present at birth or develop later in life.
Now you might be wondering what skeletal muscles are. It's very simple. They are the muscles that are attached to our skeleton and that we can control and move as we want. Think about it, when you raise an arm, bend a leg, walk, talk... these skeletal muscles help with all of this. The largest number of muscles in our body belong to this type. So when a myopathy occurs, even doing these everyday tasks can be difficult.
What are the main types of myopathies?
Myopathies can be divided into two main categories: inherited and acquired. Let's look at these types separately.
| Type of myopathy | A simple explanation |
|---|---|
| 1. Inherited Myopathies Types inherited from parents through genetic mutation. | |
| Congenital Myopathies | These usually present as symptoms in a young baby or child. Motor skills such as crawling and walking may be delayed. All skeletal muscles in the body are often affected, and the condition does not worsen over time. |
| Mitochondrial Myopathies | It is caused by defects in the mitochondria, the "powerhouses" of our cells that produce energy. In addition to muscle weakness, it can also affect the heart, brain, and digestive system. Examples include Kearns-Sayre syndrome , MELAS , and MERRF . |
| Muscular Dystrophies | In these cases, muscle weakness gradually increases over time. This condition is caused by the breakdown of muscle tissue due to defects in the proteins that support muscle tissue. |
| Metabolic Myopathies | This is a condition where there is sudden muscle weakness during exercise or muscle strain. This condition is caused by defects in the genes that produce certain enzymes. |
| 2. Acquired Myopathies Types that occur later in life due to external causes. | |
| Autoimmune/Inflammatory Myopathy | It is caused by a problem with our own immune system that attacks the muscles. |
| Toxic Myopathy | It can be caused by certain toxins (e.g., excessive alcohol) or certain medications. |
| Endocrine Myopathy | They are caused by problems with the endocrine system, which controls the hormones in our body. These can be caused by diseases of the thyroid gland or adrenal glands. |
| Infectious Myopathy | Muscle weakness due to a viral, bacterial, parasitic, or fungal infection. |
| Critical Illness Myopathy in the Intensive Care Unit | It can occur during treatment in an intensive care unit (ICU). It is thought to be caused by being in the same position for a long time. It mainly affects the muscles that help with breathing. |
What are the common symptoms of myopathy?
The main symptom common to all types of myopathy is muscle weakness . This is most commonly felt in the upper arms, shoulders, and thighs. In addition, symptoms such as:
- Muscle cramps and stiffness
- Muscle spasms
- Low energy
- Feeling tired quickly even after doing small tasks
Due to this muscle weakness, even simple daily tasks such as getting dressed, bathing, combing your hair, climbing stairs, and getting out of bed can be a challenge.
Some types of myopathy also have specific symptoms. For example, in muscular dystrophies, muscle weakness gradually increases. This weakness often begins in the face, hips, and shoulders.
How is myopathy diagnosed?
Because there are many diseases that affect the nerves and muscles in our bodies, several tests are needed to accurately diagnose myopathy. Your doctor may recommend one or more of these tests.
| Name of the test | Simply put... |
|---|---|
| Genetic Testing | They use a blood or saliva sample to check if there is a defect in your genes. |
| Biochemical Genetic Testing | Blood, urine, or spinal fluid are tested to look for enzyme abnormalities. |
| CT Scan (Computerized Tomography) | A series of X-rays are taken to create a complete 3D image of bones, blood vessels, and soft tissues. |
| Lumbar puncture | A small needle is inserted between two vertebrae in the lower back and cerebrospinal fluid (CSF) is taken and tested. |
| MRI scan (Magnetic Resonance Imaging) | A strong magnetic field and radio waves are used to obtain detailed images of organs, tissues, and the skeleton. |
| Nerve and Muscle Biopsy | For testing, a small piece of tissue is surgically removed from the relevant muscle or nerve and sent to the laboratory. |
| Nerve Conduction Studies | Electrodes are attached to the skin, stimulating nerves and measuring the speed at which electrical signals travel through them. This helps to determine if there is a problem with the nerves. |
| Electromyography (EMG) | Small electrodes are inserted into the muscles and the electrical activity is measured as the muscle contracts and moves. This can also help determine if the problem lies in the muscles themselves. |
What are the treatments for myopathy?
The treatment for myopathy depends entirely on the type of myopathy you have.
There is no cure for most inherited myopathies . However, symptoms can be managed and life can be made easier through treatments such as physical therapy . Some types, such as Duchenne muscular dystrophy and Pompe disease, can also be treated with medication.
Acquired myopathies are usually treated by treating the underlying cause . For example, endocrine myopathy is treated by stabilizing hormone levels. Depending on the severity of the condition, physical therapy may also be necessary in these cases.
Most importantly, your doctor will determine the best treatment plan for your condition, so be open and honest with him about anything.
Take-Home Message
- Myopathy is not a neurological disease, but a disease that affects the muscles .
- There are many types of this; some are present at birth, while others develop later in life.
- The main symptom is muscle weakness, which can make things like walking and lifting difficult.
- Various tests, such as blood tests, scans, and biopsies, may be required to accurately diagnose the disease.
- The treatment depends on the type of myopathy you have, so always consult your doctor for the right advice.
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