Nemaline myopathy is a group of genetically heterogeneous hereditary myopathies, the common pathohistological manifestation of which is the formation of filamentous structures in the muscle tissue, which is reflected in the name of the pathology (from the Greek Nema – thread). Symptoms of various forms of the condition can vary significantly in their severity –…
Neurofibromatosis are hereditary diseases characterized by the formation of benign tumors in the skin, soft tissues, nervous system and internal organs. There are 6 types of neurofibromatosis, types I and II are clinically significant. Common symptoms include neurofibromas on the skin, tumors of the spinal roots, auditory and optic nerves, pigmented spots, bone deformities. Diagnosis…
Hereditary angioedema is a genetic disease in which there is a deficiency of the inhibitor of the C1 component of the complement. Symptoms are recurrent swelling of the skin, mucous membranes and abdominal organs, which may be accompanied by suffocation (with laryngeal edema), vomiting and abdominal pain (with abdominal lesions). Diagnosis is made on the…
Hereditary amyloidosis is a group of diseases characterized by the accumulation of insoluble protein complexes (amyloid) in various tissues – mainly in the nervous and digestive systems, kidneys and myocardium. Symptoms are neurological disorders, cardiac pathologies (cardiomyopathy), nephropathy and dyspeptic disorders. In various forms of hereditary amyloidosis, the defeat of a certain system prevails. The…
Familial erythrocytosis is a set of genetic conditions characterized by an increased content of hemoglobin and erythrocytes in the blood, which leads to a violation of its rheological properties. Symptoms of pathology, depending on its severity, may include headaches, cardiac arrhythmias, hemorrhages, thrombotic disorders, cyanosis or, conversely, a crimson tint of the skin and mucous…
Hereditary hearing loss is one of the forms of congenital hearing impairment caused by genetic mutations and for this reason can be inherited from parents to offspring. Symptoms of this condition are hearing loss of varying severity, often occurring in the first months and years of a child’s life (very rarely after 6 years), as…
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 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 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 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…
