Can dysferlinopathy be treated?

It is possible and necessary to treat, to cure – while it is impossible. Scientists suggest that over the next decade, a cure method can be found, but so far patients have only one way: to try to restrain the development of the disease as much as possible.

It is necessary to strictly dose physical activity, but in no case do not avoid them. Properly chosen exercises will improve mobility, but fatigue, muscle pain, cramps after or during exercise should not be allowed to occur. Excessive load accelerates the development of the disease, which is why myopathy in severe form is more common in athletes.

It is useful to swim, if there is such an opportunity. Mobility in the joints will allow you to maintain the right physiotherapy.

Special hopes pinned today by doctors and patients on the drug Resolaris, the test of which ends in the United States. This substance is a protein with the complex name “histidine-aminoacyl-tRNA synthetase.” The drug developers expect that intravenous drug administration will help preserve the health of the muscles and significantly improve the quality of life of patients diagnosed with PKMD.

In Russia, scientists are developing methods for treating dysferlinopathy using stem cells.

It remains to hope that over the next few years, patients will receive an effective cure for severe illness, which will deprive a person of the opportunity to move independently and lead a full life.

General points include:

  • Mandatory stretching exercises to prevent contractures.
  • If necessary – the use of a cane, a walker, orthopedic wheelchairs to facilitate movement.
  • Mandatory weight control, as obesity affects the course of the disease.
  • It is also necessary to avoid the use of steroids.
Myopathy: a disease that destroys muscles

Dysferlinopathy belong to the group of myopathies. Myopathy – a disease that affects the muscles, and leads over time to their complete dystrophy.

One of the reasons for the development of myopathy may be the pathology associated with the absence or inappropriate structure of a protein called “dysferlin”. The basis of the pathology is a gene violation. The disease is transmitted from parents, and related marriages increase the risk of myopathy.

Dysferlinopathy is really rare – on average, one out of a million people suffer from this disease. But in some regions, the frequency of the disease is higher, and this is due in some way to the traditions of the local population. The group of dysferlinopathy includes Miyoshi’s myopathy, belt-extremity muscular dystrophy 2B (PCMD2V, or, in English, LGMD2B), which, in turn, includes a whole group of disease variants.

The disease first makes itself felt at a young age – in 15-25 years. The patient begins to feel increasing weakness in the limbs. It becomes difficult for him to raise his arms, it is difficult to walk. The disease progresses, eventually leading to a loss of the ability to move independently and maintain itself.

At the same time, myopathy affects only the muscles that contract arbitrarily, that is, those that are controlled by the will of the person. These are usually the muscles of the shoulder girdle, thighs, calf and lumbar muscles. Functions of the digestive and excretory systems do not suffer, as well as the work of the reproductive system. Intelligence and feelings remain completely intact. In the later stages, the respiratory and cardiovascular systems may be affected.

The later myopathy makes itself felt, the slower it progresses. But its development depends on many factors, so when identifying myopathy, the patient has to completely change his life. This is the only way to control the disease and restrain its development.

Squirrels sometimes “break”

Protein dysferlin was isolated recently, in 1998. Scientists who discovered it, noted the similarity of the protein molecule from the human body with the protein present in the body of roundworms and participating in their reproduction. The “worm” protein was called fer-1, as it was directly related to the fertility of these primitive creatures. In humans, a similar protein has no relation to reproductive functions, but muscle health and the presence or absence of muscular dystrophy depend on it.

The prefix “dis-” from dystrophy and “fer” from fer-1 were combined in the name of the protein.

Several genes “respond” to the correct protein synthesis.

The mechanism of action of damaged dysferlin is not fully understood. It is assumed that protein is important for restoring the damaged membrane covering muscle fibers. Membrane damage occurs constantly, and the violation of its recovery process with time leads to irreversible consequences: muscle fibers are destroyed, and instead they form connective or adipose tissue. It is also known about the participation of protein in various other processes, including, for example, the release of ATP.

Diagnosis of dysferlinopathy: symptoms and research

Detection of dysferlinopathy became possible only recently, when scientists adopted methods of molecular genetics in combination with immunological ones.

When a suspicious symptom occurs – an increasing weakness of the muscles, signs of atrophy, the patient is referred to a comprehensive study, including:

  • Determination of serum creatine kinase level. Creatine kinase is an enzyme that enters the bloodstream when muscle fibers are damaged. The level of this substance in the serum of patients with dysferlinopathy may exceed normal levels by hundreds of times.
  • Electromyography, which allows to determine how affected the neuromuscular apparatus.
  • Magnetic resonance and computed tomography at early stages makes it possible to assess changes in the structure of muscles, sometimes even before clinical symptoms begin to appear.
  • Histopathological studies can detect signs of necrotic processes in the affected muscles, and immunoblotting can measure the amount of disferlin and its molecular weight.
  • Gene studies are also being conducted, but the methodology has not yet been sufficiently developed. In particular, researchers from Saudi Arabia are working on this problem, where the disease is found relatively often due to the fact that marriages between cousins ​​and second cousins ​​are common among the population.

Accurate diagnosis will not help at the present stage to cure myopathy, but it will allow doctors to provide the patient with the best support and assistance. The correct action program allows you to take control of the disease and slow down its development as much as possible.

  • In Dagestan, there is the village of Rakhat, where, due to kinship marriages, a rare disease was not so rare: out of 2 thousand inhabitants, myopathy was already manifested in 11 people. All of them are relatives in varying degrees of kinship. Both men and women are ill.
  • One of the forms of dysferlinopathy, Miyoshi’s myopathy, was first described by the Japanese doctor K. Miyoshi in 1967. In Myopia myopathy, the calf muscles are affected primarily, while in PCMD2V, the muscles of the hips and pelvis are affected. Gradually, the disease progresses and can also capture the muscles of the shoulder girdle and neck.

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