distal motor neuropathy

Distal Motor Neuropathy

Distal motor neuropathy is a genetically heterogeneous group of hereditary diseases that combine impaired innervation of limb muscles with the development of atrophy without pathology of sensitive fibers. Symptoms of these conditions are slowly progressive weakness of the muscles of the legs, arms and shoulder girdle, as well as a decrease in muscle mass in…

knist dysplasia

Kniest Dysplasia

Kniest dysplasia is one of the forms of dwarfism caused by genetic disorders that lead to the formation of defective forms of one of the varieties of the main protein of connective tissues – collagen. The symptoms of this condition can be determined already at birth – in patients, a relative shortening of the limbs…

diastrophic dysplasia

Diastrophic Dysplasia

Diastrophic dysplasia is one of the varieties of skeletal dysplasia, which is characterized by a violation of the formation of certain types of cartilage tissue and the associated hindered formation of endochondral bone. The symptoms of the disease are detected immediately at birth or as part of prenatal diagnosis and consist in a reduced length…

pyruvate dehydrogenase deficiency

Pyruvate Dehydrogenase Deficiency

Pyruvate dehydrogenase deficiency is one of the forms of hereditary enzymopathies characterized by various disorders of the protein pyruvate dehydrogenase complex and abnormal carbohydrate metabolism. The main symptoms of this condition are various malformations, progressive damage to the central nervous system, convulsions, muscle weakness, ataxia and respiratory disorders. The diagnosis of pyruvate dehydrogenase deficiency is…

immunoglobulin a deficiency

Immunoglobulin A Deficiency

Immunoglobulin A deficiency is a group of primary immunodeficiency conditions that are caused by impaired synthesis or accelerated destruction of immunoglobulin molecules of this class. The symptoms of the disease are frequent bacterial infections (especially of the respiratory system and ENT organs), disorders of the gastrointestinal tract, allergies and autoimmune lesions. Diagnosis of immunoglobulin A…

alpha-1-antitrypsin deficiency

Alpha-1-antitrypsin Deficiency

Alpha-1-antitrypsin deficiency is a hereditary disease resulting from a lack of a protein enzyme that prevents the destructive effect of proteases on lung tissue. In newborns, cholestasis syndrome manifests itself, later cirrhosis of the liver develops with characteristic symptoms. In adults, bronchial obstruction syndrome, pulmonary emphysema are detected, less often – symptoms of liver failure.…

holoprosencephaly

Holoprosencephaly

Holoprosencephaly is a severe disorder of brain formation, in which a complete or partial absence of separation into hemispheres is recorded in combination with other malformations of the head and face. Symptoms of this condition are abnormal facial formation with the development of cyclopia, proboscis-like nose (or lack of nose), cleft lip and cleft hard…

gnathodiaphyseal dysplasia

Gnathodiaphyseal Dysplasia

Gnathodiaphyseal dysplasia is a hereditary disease of the skeleton characterized by a predominant lesion of the lower jaw in combination with the fragility of other bones. The symptoms of pathology are frequent fractures in childhood with the development of ossifying periodontitis and frequent purulent osteomyelitis of the jaws in the second to third decade of…

glutaric aciduria

Glutaric Aciduria

Glutaric aciduria is an autosomal recessive disease that occurs when the metabolism of amino acids and fatty acids is disrupted and is caused by mutations of several genes. Pathology is manifested by muscular dystonia, hyperkinesis and other neurological disorders in combination with severe metabolic status disorders, damage to internal organs. Diagnosis requires biochemical, molecular genetic…