Myopathies

Diseases of the muscle cells (muscle fiber) that make up the muscles, which provide the movement of our body, are called “myopathies”. Common symptoms due to muscle diseases are; varying degrees of muscle weakness, muscle wasting, muscle aches, and cramps.

Muscle diseases are divided into two main groups as hereditary and acquired.

There are hundreds of types of muscle diseases in the medical literature. Among the most commonly known are;

• Duchenne and Becker Muscular Dystrophies
• Limb-Girdle Muscular Dystrophies
• Muscular Dystrophies of a Particular Group of Muscles
• Myotonic Dystrophy
• Periodic Paralysis
• Polymyositis and Dermatomyositis
• Metabolic and Endocrine Myopathies
• Toxic and Drug-induced Myopathies

Detailed anamnesis obtained from the patient and the relatives, along with physical examination findings, are very important in the diagnosis of muscle diseases. Blood tests, electrophysiological examinations (EMG), muscle biopsy, molecular genetic tests, and imaging methods (such as MRI, CT, Ultrasound) are the diagnostic tests.

For the treatment of acquired muscle diseases, it is important to determine the underlying cause. Treatment strategies are planned accordingly.

In most of the diagnosable forms of hereditary muscle diseases, definitive treatment is not yet possible. However, many promising drug studies related to these diseases are ongoing.

In many muscle diseases, physiotherapy planned by experienced specialists should be added to the treatment process. Because physiotherapy both increases physical capacity and prevents deformities that may develop.

In some myopathies, organs other than muscles may also be affected (heart, eyes, etc.). Diseases resulted from damage to these organs should also be treated.

Individuals with muscle disease should inform the relevant physician before any procedure/surgery or when getting medication prescriptions for another disease.

The course of muscle diseases varies greatly depending on the underlying cause. Some patients can return to their normal lives with treatment, while others become bedridden due to the progressive and damaging nature of the disease.

It is important to avoid consanguineous marriages to prevent hereditary muscle diseases. If there is an individual with muscle disease in the family, whether the pregnant family members have a chance of early diagnosis should be evaluated with amniocentesis.

What is Myopathy?

Consisting of muscle-related disorders, myopathy encompasses a wide variety of diseases. Myopathy is also known as muscle disease. It can appear later in life, as in congenital diseases such as muscular dystrophies . Hereditary myopathies have genetic disorders regarding the formation of proteins in the muscle fiber membrane. The defect in the gene is usually passed on as a result of consanguineous marriage or may occur in the patient for the first time. As a result, the muscle becomes weak due to damage to the muscle membrane and muscle. On the other hand, non-hereditary and acquired myopathies occur for many reasons. The most common of these are muscle diseases that occur as a result of damage to the muscles due to disorders in the body’s immune system, such as polymyositis and dermatomyositis. Infections, thyroid disorders, and certain medications can also cause muscle damage, leading to myopathy.

Types of Myopathy

To briefly describe the types of myopathy:

• Becker and Duchenne Muscular Dystrophies: They are diseases that occur due to the lack of protein necessary for the structure of muscle fibers.
• Limb-Girdle Muscular Dystrophies: It is a group of muscle diseases in which patients have difficulty in climbing hills and reaching high places, usually due to weakness in the muscles around the shoulders and hips.
• Myotonic Dystrophy: It is the most common genetic muscle disease in the age range after completing puberty. Each child whose father or mother is affected has a 50% chance of inheriting the disease.
• Facioscapulohumeral Muscular Dystrophy: Usually, the facial muscles and the muscles around the shoulders are affected. It shows genetic transmission from the father or mother.
• Emery-Dreifuss Muscular Dystrophy: This disease, which starts at a young age, first manifests itself with the inability of the joints to fully open due to the contraction of the muscles in the joints, weakness in the leg and arm muscles. Due to heart rhythm disorders, patients in their 30s generally require a pacemaker.
• Congenital Muscular Dystrophies: They are myopathies that manifest themselves from birth. In addition to skeletal muscle interference, they also cause structural disorders in the brain, mental retardation, and visual disorders. Treatment is not possible yet, except for physical therapy.
• Congenital Myopathies: They appear due to the structural disorder of muscle fibers. Although they mostly appear in infancy, some types manifest themselves at later ages.
• Metabolic Myopathies: These are muscle diseases that occur when the sugar and fat that provide energy to the muscles cannot be used due to genetic disorders.

What are the symptoms of Myopathy?

Myopathy is about the organs that provide our strength. These organs are as follows; the spinal cord, the nerves in the spinal cord, and the muscles supplied by these nerves. Though it is mainly the disease of the muscle, the disease may be in the nerves controlling these muscles, at the roots in the spinal cord, or at the points of contact with the muscle. Symptoms may vary depending on the region of origin of the disease. All have one common consequence and that is weakness. In general, muscle diseases manifest themselves by difficulty in walking. In some cases, myopathy symptoms such as limitation of eye movements and droopy eyelids are attached. It also affects the respiratory and cardiac muscles, though at low rates. Therefore, it is necessary to follow up and take precautions before they progress or before these situations occur.

How is Myopathy diagnosed?

For the diagnosis of myopathy, physical examination, EMG tests, and blood tests are necessary.

Is it possible to treat Myopathy?

Treatment of non-hereditary myopathy is possible.  Hereditary Myopathy is generally seen in children, adolescents, and adults, though it is also rarely seen in elderly people. When a gait abnormality is seen in children and adolescents, it should first be considered a genetic disease.

How is Myopathy Treated?

The causes of myopathy and the age of the patient determine the treatment. In general, exchange transfusion therapy, drug treatments, and physiotherapy methods are used. While the main purpose of drug use is to eliminate the problem that causes myopathy, the main purpose of other methods is to maintain or increase mobility without any problems. Different treatments can be applied according to the type of myopathy.