Randu-Osler-Weber disease is one of the most common hereditary hemorrhagic telangiectasias, the cause of which is the failure of the vascular wall of some capillaries. Symptoms of the disease are frequent nosebleeds, telangiectasia on the skin and mucous membranes, with severe forms, gastric and pulmonary hemorrhages and chronic iron deficiency anemia can occur. Diagnosis is…
Pompe disease is a rare hereditary pathology, one of the forms of lysosomal accumulation diseases characterized by a violation of the processes of glycogen breakdown in nerve and muscle cells (skeletal muscles, myocardium). The symptoms of the disease are quite variable in the time of their manifestation and severity in different patients, progressive muscle weakness…
Disease of periodic muscle spasms is a hereditary form of myopathy characterized by a violation of calcium metabolism in the sarcoplasmic reticulum. The main symptoms of the disease are painful spasms, especially during physical exertion, weakness of the leg muscles, general muscle weakness. Pathology is diagnosed on the basis of data from percussion and palpation…
Norrie disease is a genetic disease characterized by the appearance of pseudoglyoma of the retina of both eyes in the first months of a child’s life and other disorders and malformations. The symptoms of pathology are complete blindness, the presence of retinal hyperplasia and pigment epithelium of the iris, in some cases – progressive mental…
According to the University of California Health in San Francisco, a “sudden” sign of leukemia may appear in the morning. Leukemia, also known as white blood or blood cancer, is a broad group of malignant blood diseases. Initially occurs in the bone marrow. Classic symptoms of leukemia: enlarged lymph nodes; decreased immunity, susceptibility to infections;…
Niemann-Pick disease is a rare hereditary disease characterized by the accumulation of lipids in various organs and tissues, which leads to a violation of their functions. A distinctive feature is a pronounced clinical polymorphism. The most common are focal neurological symptoms, delayed neuropsychiatric development, hepatomegaly and splenomegaly. The diagnosis uses the determination of the activity…
Menkes disease (curly hair disease) is a rare genetic disease in which copper metabolism is disrupted in the body. Pathology has an X-linked recessive type of inheritance. Menkes disease is manifested by a lag in mental and physical development, brittle curly hair, cerebral neurodegenerative lesions. Diagnosis of the disease involves genetic analysis, the study of…
Lhermitte-Duclos disease is a genetic pathology that leads to the development of a slow–growing tumor of the cerebellum, which can appear at any age of the patient. The main manifestations of the disease, in addition to the symptoms of damage to the cerebellum, are also hydro- and megalocephaly, skeletal malformations and gum hyperplasia. Diagnosis is…
Krabbe disease is a genetically determined glycolipidosis that occurs with a predominant lesion of myelin fibers. The classic variant of pathology develops in the first half of life, manifests with hyperexcitability, febrile syndrome, muscle spasticity, seizures, delayed psychomotor development. Krabbe disease is diagnosed through cerebral MRI, ENMG, enzyme and molecular genetic studies. No specific therapy…
Cowden disease is a genetic disease, the main manifestation of which is the formation of benign tumors of internal organs, and the incidence of malignant neoplasms is also increased. Multiple hamartomas and cysts are formed in the gastrointestinal tract, mammary gland, organs of the reproductive system. Diagnosis is partly based on the study of the…