hereditary lymphedema

Hereditary Lymphedema

Hereditary lymphedema is a group of genetic pathologies that manifest as a violation of lymph outflow from various parts of the body (most often the lower extremities) with the development of pronounced edema. Symptoms of this condition are swelling of the affected limbs, developing at different ages (depending on the form of the disease), aggravated…

osteopetrosis

Osteopetrosis

Osteopetrosis is a rare hereditary disease in which there is a compaction of the bones of the skeleton and the closure of the bone marrow channels with dense bone tissue. Usually it first appears in childhood. It is accompanied by fatigue when walking and pain in the extremities. Pathological fractures are possible. Due to the…

myofibrillary myopathy

Myofibrillary Myopathy

Myofibrillary myopathy is a group of genetically heterogeneous diseases with different types of inheritance, united by similar pathohistological changes in muscle tissue. Symptoms of this condition are progressive muscle weakness combined with cardiac arrhythmias and respiratory failure. Depending on the form of the disease, the severity of one or another manifestation may vary greatly. Diagnosis…

myoclonic dystonia

Myoclonic Dystonia

Myoclonic dystonia is a genetically heterogeneous condition that leads to muscle dysfunction (myoclonic hyperkinesis), as well as dystonia of the musculature of the upper body – neck, upper limb girdle. Symptoms of this condition are sharp muscle twitches (arms, neck, occasionally legs), especially when performing subtle movements. Then dystonia joins, which can manifest itself with…

methylmalonic acidemia

Methylmalonic Acidemia

Methylmalonic acidemia is a genetic disease that occurs when the metabolism of branched chain amino acids is disrupted. Pathology has an autosomal recessive type of inheritance. Clinical manifestations include eating disorders, delayed psychomotor development, neurological complications. With an unfavorable course, methylmalone crises occur. For diagnostics, biochemical blood and urine tests, genetic tests, methods of instrumental visualization…

metachromatic leukodystrophy

Metachromatic Leukodystrophy

Metachromatic leukodystrophy is an autosomal recessive inherited demyelinating pathology of the central nervous system, the distinctive feature of which is metachromatic staining of demyelination zones. The clinic is dominated by developmental delay, paresis, convulsive seizures, extrapyramidal and cerebellar disorders, visual impairment. During the diagnosis, a study of the cerebrospinal fluid, the level of sulfatides, the…

lissencephaly

Lissencephaly

Lissencephaly is a group of genetically determined brain development abnormalities characterized by partial or complete underdevelopment of the convolutions and furrows of the cerebral cortex, as well as a violation of its ultrastructure. The severity and combinations of symptoms of this condition differ in different forms of the disease, the most common are seizures, deep…

lipoidosis

Lipoidosis

Lipoidosis are hereditary diseases associated with impaired fat metabolism, deposition of lipids and their metabolites in various organs and tissues. General clinical manifestations are represented by a progressive disorder of intellectual and motor functions, damage to bones, skin, central nervous system, eyes and internal organs (liver, kidneys, spleen). Diagnosis of lipoidosis is based on laboratory studies…

maple syrup urine disease

Maple Syrup Urine Disease

Maple syrup urine disease is a hereditary disease, which is based on a deficiency of dehydrogenases of branched chain ketoacids, as well as a violation of the metabolism of the amino acids leucine, isoleucine and valine. It is manifested by pathological weakness, quiet crying, vomiting, muscle twitching, a characteristic “maple” smell of urine, delayed psychomotor…