canavan disease

Canavan Disease

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…

von hippel-lindau disease

Von Hippel-Lindau Disease

Von Hippel-Lindau disease is an autosomal dominant gene pathology that causes the development of a number of polymorphic tumors in the body. Most often these are retinal angiomas, CNS hemangioblastomas, pheochromocytomas, neoplasms of the kidneys and pancreas. Sometimes a single tumor process acts as a manifestation of the disease. The diagnosis is verified after neurological…

gamstorp disease

Gamstorp Disease

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…

hallervorden-spatz disease

Hallervorden-Spatz disease

Hallervorden-Spatz disease is a neurodegenerative hereditary pathology caused by the deposition of iron in the basal ganglia of the brain. It is manifested by Parkinsonism syndrome, intellectual and mental disorders, hyperkinesis, visual disorders. The main diagnostic value is the detection of the “tiger’s eye” pattern in the area of the pale globe during MRI of…

wilsons disease

Wilson’s Disease

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…

alzheimers disease

Alzheimer’s Disease

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

Alpers Disease

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…