Erb-Goldflam Disease

Erba-Goldflam: description of the disease

Erba-Goldflama (Erba G., Goldflamen O.) is a rare hereditary disease, inherited in most cases in the form of an autosomal recessive type of inheritance, as well as in the form of X-linked recessive and mitochondrial recessive inheritance. Pathogen: deletion of several genes at one locus, the presence of a genetic mutation leads to a metabolic disorder. It affects the central nervous system, the endocrine system, and causes disruption of vesicular transmission (signal transmission through vesicles with neurotransmitters - norepinephrine, dopamine, serotonin.). Characteristic symptoms of Erb Goldflam include developmental delay, mental retardation, incoordination, facial abnormalities, spinal scoliosis, seizures, hyperpigmentation at birth, behavioral problems, speech impairment, ataxia and spasticity from



Erba–Goldflamencol

Erba goldflamcol is the name given to two rare, inherited neurological disorders that affect the human nervous system. Lesions in this form of disease affect chromosome number 17, for which the localization of the genes responsible for the development of this pathology is determined within it. Among its components



Erb-Goldflam or Erb's disease is a pathology in which nerve roots are pinched due to compression of the vertebral segments. Nerve elements cannot function normally, which leads to disruption of the nutrition and functioning of the corresponding muscles, internal organs, blood vessels and joints. Painful symptoms appear.

Erb syndrome can occur at any age, but is more common after age 30. Among the patients there are slightly more men than women. This is probably due to the anatomical features of the spine