On May 24, 2024 at the department of propaedeutics of children’s diseases of the State Institution "Istiqlol medical complex" the clinical conference on the topic: "Limb-girdle muscular dystrophy" was held by the staff of the department together with doctors of the 7th children's somatic corpus of the State Institution "Istiqlol medical complex". The presentation was prepared by the senior laboratory assistant of the department, clinical resident of the department of pediatric neurology Sharifzoda Z.Sh.

Limb-girdle muscular dystrophy (LGMD) is a genetically inherited disease that affects skeletal muscles and manifests with progressive, predominantly proximal muscle weakness due to loss of muscle fibers. This group of diseases are progressive hereditary myopathies in which the shoulder and pelvic girdle muscles are primarily affected. Atrophy and weakness of the muscles of the distal limbs also develop. In some forms of the disease, contracture of the ankle joints and hypertrophy of the calf muscles are possible. Pathology is mainly inherited by autosomal recessive type (type I), in some families autosomal dominant inheritance is possible (type II). Autosomal recessive forms of LGMD are more common. The disease develops due to a mutation in one of 15 genes that leads to problems in building proteins needed for normal muscle function.

Typical manifestations of diseases of this group are symmetrical weakening and atrophy of muscles with preservation of their sensitivity, as well as skin color. Symptoms also include:

Mobility difficulties (inability to sit for long periods of time, difficulty climbing stairs, a stooping "duck" gait);

scoliosis, lordosis;

chronic fatigue;

problems with the heart and respiratory function.

LGMD patients have tendon hyporeflexia, muscle hypotonia and hypotrophy. Facial muscles are usually not affected. Muscle weakness may manifest in childhood, may begin in the proximal muscles of the upper or lower extremities, affecting both arms and legs as it progresses. After the first manifestations of LGMD, a person may retain the ability to walk for the next 20 years. It is believed that early manifestation of the disease is associated with its rapid progression (in adults, the pathology progresses more slowly). After 30 years of LGMD development, signs of respiratory failure appear. Intellectual functions of the patient are not affected.

Diagnosis of LGMD includes: blood tests for creatine phosphokinase; muscle biopsy; genetic testing to look for mutations in the relevant genes.

Treatment of LGMD. After determining the mutations in the genes that caused the disease, a therapy strategy is developed. It is based on the use of drugs that show high efficacy at the cellular level. Steroid drugs are widely used. Patients with LGMD should undergo regular cardiac muscle examination and assessment of respiratory function. In case of respiratory failure, artificial ventilation is used. Cardiac abnormalities due to myodystrophy should be corrected with medication at the initial stage.

The presentation details the etiology, pathogenesis and epidemiology of the disease in children. Special emphasis was placed on the main causes of the disease (hereditary factor), followed by the modern classification of this pathology. The presentation was accompanied by slides reflecting the main issues of clinical and genetic features of LGMD with presentation of a clinical case of patient H.K., 14 years old, who was on inpatient treatment in the pediatric neurology department of SI "Istiqlol medical complex" in 2023. Clinical manifestations of LGMD, diagnosis of the disease, differential diagnostic criteria, modern methods of treatment, as well as the most common complications with prognosis and prevention of this pathology were presented in detail.

In conclusion, taking into account the relevance of this topic, many questions were asked, to which exhaustive answers were given, and a discussion was held.


Department of propaedeutics of children's diseases

translated Ismoilov R.

24.05.2024 1724