Erbe-Roth's Dystrophy

Erb-Rot's dystrophy refers to the primary degenerative neuromuscular diseases of a hereditary nature. Sometimes this pathology is called juvenile zone-limb progressive muscular dystrophy.

Progressive muscular dystrophy of Erba-Roth can begin in childhood or adolescence, but the age of onset of the disease varies in a wide range - between 10 and 30 years. Both sexes are equally affected, although it was previously thought that there are much more young men and young men among patients with this diagnosis.

Neurologists point out that Erbov-Rot's dystrophy, which began as a child, progresses faster than those who fell ill in adolescence or adulthood. Moreover, in the second case the disease proceeds in a lighter form.

[1], [2], [3]

The causes of Erba-Rot's dystrophy

According to the present version, the causes of Erba-Rot's dystrophy are a genetic defect transmitted from one of the healthy parents - a healthy carrier of a mutated gene in paired non-chromosomes or in the X chromosome. These are genes such as 13q12, 17q12-q21.33, 4q12 and 5q33.

This type of inheritance is called autosomal recessive, and this way the offspring are most often transmitted diseases associated with a lack of enzymes and violations of structural transmembrane proteins of α-, β-, γ- and δ-sarco- glycans.

Progressive muscular dystrophy of Erba-Rota arises from the defeat of muscle tissues and their atrophy. Among the assumptions concerning the mechanism of pathology development, the increased permeability of the membranes of cells of the striated muscle tissue (sarcolemm) is considered due to the inadequate synthesis of sarcoglycans - the constituent proteins of the dystrophin-glycoprotein complex, which provides the connection of the cellular skeleton of the contractile elements of myofibril muscle fibers with extracellular tissue structures. As a result of a deficiency of sarcoglycans, the amino acid-enzyme balance in muscle fibers is disrupted.

A protein isoenzyme of creatine phosphokinase may also play a role in the etiology of Erb-Rot's muscular dystrophy, more precisely, its lack of muscle tissue and an abnormally high level in the blood plasma. This enzyme catalyzes the reaction of oxidative phosphorylation of adenosine diphosphate (ADP) to adenosine triphosphate (ATP) in the mitochondria of muscle cells, that is, it supports the muscle contraction cycle.

Symptoms of dystrophy Erba-Rota

The main symptoms of Erba-Rot's dystrophy, which begins to develop in children and adolescents:

• delay in the onset of independent walking;
• awkward gait waddling from foot to foot ("duck" type of walking due to symmetrical weakening of the muscles of the hip area);
• frequent imbalance and instability (stumbling during walking and falling when running);
• difficulty in getting out of bed, off the chair, at the slopes, when climbing and descending the stairs;
• bulging of the scapular bones ("pterygoid" scapula - a consequence of the weakening of the anterior dentate muscles of the thorax and the rhomboid muscles of the back);
• reduction of the circumference of the waist (due to a decrease in the tone of the transverse muscles of the chest, abdomen and ileal-rib muscles);
• pathological fatigue.

The disease progresses and there is a constant general weakness and weakening of the muscular corset of the back and muscles of the shoulder girdle, which leads to such defects of posture as hyperlordosis - deformation of the spine in the lumbar region with convexity anteriorly. Patients are increasingly difficult to hold any objects in their hands and raise their hands up. Mimic facial muscles also lose mobility, which is accompanied by incomplete closure of the eyelids and protrusion of the lips (due to weakness of the circular muscle of the mouth).

Gradually, a decrease in muscle tone (hypotrophy) leads to thinning and flabbiness of muscle tissue, replacing it with fatty tissue and fibrous tissue, that is, myodystrophy. And the characteristic symptoms of Erb-Rot's dystrophy at later stages: significant loss of muscle mass, joint stiffness (flexion contracture), shortening of tendons (including heel), and almost complete loss of deep tendon reflexes of the lower extremities (knee and plantar). Approximately 20% of cases in patients with this disease develop cardiomyopathies.

Diagnosis of Erb-Rot's dystrophy

Diagnosis of Erbota-Rot's dystrophy is based on the physical examination of patients, the study of family history and analysis of research data:

• genetic testing (used to determine the type of muscular dystrophy);
• electroneuromyography (ENMG);
• biopsy and biochemical examination of muscle tissue;
• general analysis of crocs;
• blood test for KFK (creatine phosphokinase);
• analysis of urine.

Electromyography allows us to investigate not only the degree of neuromuscular transmission, but also to determine the level of immediate muscle excitability, which is especially important for the differential diagnosis of Erba-Rot's dystrophy with neuropathic muscle pathologies.

Treatment of Erb-Roth's dystrophy

It should immediately be noted that, taking into account the genetically determined nature of the pathology, the treatment of Erbota-Rot's dystrophy is aimed at reducing the intensity of symptoms, easing the state of patients and slowing the progression of the disease.

Medication therapy for muscular dystrophy of Erba-Rota includes such drugs as:

• complex vitamins (A, group B, C, D, E);
• ATP - to normalize energy metabolism of cells and activate enzymes of membranes, as well as to increase antioxidant protection of the heart muscle (intramuscularly);
• Galantamine - is used for progressive muscular dystrophy of cerebral palsy, myopathy. (tablets taken internally at 4-12 mg per day - in 2-3 hours);
• Alpha-lipoevaya (tioktovaya) acid - normalizes the metabolism: it participates in the regulation of lipid and carbohydrate metabolism (tablets of Tiogama, Thiolipon, Espa-Lipon, Dialipon are administered orally 600 mg once a day);
• Riboxin - the precursor of ATP, stimulates metabolism, has anabolic, antiarrhythmic and antihypoxic effect (Riboxin tablets take inside at 1.2-2.4 g per day);
• Actovegin - is used to improve peripheral arterial or venous circulation, as well as for better healing of pressure sores (1-2 tablets are prescribed three times a day).

Recommended light massage, hydromassage, water procedures (swimming) and exercise therapy for all muscle groups. Exercises and physiotherapy help to maintain muscular strength and joint mobility as long as possible, which inevitably reduces the muscular dystrophy of Erba-Roth

Prophylaxis and prognosis of the dystrophy of Erba-Rota

Prophylaxis of Erb-Rot's dystrophy - like most other hereditary diseases - is impossible.

In clinical medicine this pathology does not apply to fatal diseases. However, the prognosis of Erba-Rot's dystrophy is unfavorable. The disease progresses and after 20-25 years from the time of the onset of symptoms, as a rule, leads to loss of mobility and dependence on the wheelchair.

In addition, muscle atrophy affects the heart and respiratory system, which causes secondary disorders - heart failure and pulmonary infections, which lead to death. Light forms of muscular dystrophy do not affect the life expectancy of patients.

In the summer of 2014, the Swiss pharmaceutical company Santhera Pharmaceuticals announced that clinical trials of the oral drug Omigapil, intended for the treatment of congenital muscular dystrophy of Erba Rota, will begin at the end of the year. Tests will be conducted at the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institute of Health of the USA (NIH USA) under the auspices of the Swiss Foundation for the Study of Muscle Diseases and the American organization of patients with muscular dystrophies Cure CMD.

And researchers in the US, under the leadership of Professor Jerry Mandell, published the results of testing the application of gene therapy on the basis of the introduction into the affected cell of muscle tissue (without integration into its genome) of the modification of adeno-associated virus AAV1 from the Parvoviridae family. The virus causes a soft, clearly programmed immune response, as a result of which the synthesis of alpha-sarcoglycan is restored. So, probably, in the near future a serious congenital disease - the dystrophy of Erba-Roth - can be cured.