Canavan disease (spongiose infant degeneration) is a genetic neurodegenerative disease based on a lack of the enzyme aspartoacylase, which leads to demyelination of the nerve fibers of the brain. Disease manifests itself in early childhood with impaired motor skills and child development, difficulty eating, muscle hypotension, macrocephaly, epileptic seizures, blindness. Pathology is diagnosed by urine…
Gamstorp disease is one of the forms of transient muscle weakness associated with a sharp increase in the potassium content in the blood. Gamstorp disease is manifested by attacks of weakness occurring with varying frequency in the limbs and muscles of the face, which are accompanied by paresthesia, vegetative disorders, decreased reflexes and muscle tone…
Wilson’s disease is a hereditary disease transmitted by an autosomal recessive type. It occurs under conditions of mutations in the ATP7B gene encoding the copper-transporting liver ATPase protein. A characteristic feature of Wilson’s disease is the accumulation of copper in various organs and tissues, mostly in the liver and basal ganglia. Wilson’s disease can occur…
Alzheimer’s disease is a progressive form of senile dementia, leading to a complete loss of cognitive abilities, developing mainly after 60-65 years. Clinically manifested by a gradual and constantly progressive disorder of cognitive abilities: attention, memory, speech, praxis, gnosis, psychomotor coordination, orientation and thinking. The diagnosis of Alzheimer’s disease allows a thorough collection of anamnesis,…
Alpers disease is a rare mitochondrial disease characterized by progressive encephalopathy in combination with cirrhosis of the liver. Pathology occurs due to mutation of DNA gamma polymerase (POLG1). The syndrome is manifested by epileptic seizures, depression of psychomotor functions, toxic liver damage. For diagnosis, EEG, MR brain scanning, liver ultrasound, as well as laboratory tests…
Amyotrophic lateral sclerosis is a neurodegenerative disease that is accompanied by the death of central and peripheral motor neurons. The main manifestations of the disease are skeletal muscle atrophy, fasciculations, spasticity, hyperreflexia, pathological pyramidal signs in the absence of pelvic and oculomotor disorders. It is characterized by a steadily progressive course, leading to a fatal…
Laryngeal vertigo is a transient disturbance of consciousness that occurs at the peak of a coughing fit. The syndrome is manifested by cough syncopations: short-term twilight consciousness, fainting or deep loss of consciousness, sometimes accompanied by convulsions, involuntary urination and defecation. Methods of diagnosis of laryngeal vertigo include questioning, examination of the patient, functional tests,…
Postcovid syndrome has been associated with the possibility of developing autoimmune diseases. These include multiple sclerosis and rheumatoid arthritis One of the severe consequences of the coronavirus may be a compromised immune system, since its functionality will be disrupted due to the battles of white cells with infection. This was known before, but the long-term…
Beriberi is a disease caused by insufficient inclusion of thiamine (vitamin B1) in metabolic processes. Most often occurs when there is a deficiency in the intake of B1 with food, a violation of absorption in the gastrointestinal tract. Clinically, beriberi is manifested by bilateral polyneuropathy, cachexia, and cardiovascular disorders. It is possible to develop acute…
Basilar migraine is a special variant of migraine caused by transient pathological changes in the blood supply area of the basilar artery. A headache attack occurs after an aura, which includes dizziness, ataxia, sensory disorders, visual disturbances, hearing impairment. Diagnosis is carried out by methods of neurological examination, REG, ultrasound or MRI angiography, MRI or CT…