NARP syndrome (Neurogenic weakness, Ataxia, Retinitis Pigmentosa, neuropathy, ataxia, pigment retinitis syndrome) was first described in 1990. It is inherited by the maternal type.
MERRF syndrome (Myoclonic Epilepsy with Ragged-Red Fibers, myoclonus-epilepsy, "torn" red fibers) was first described in 1980. Later, the disease was allocated to an independent nosology.
MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like episodes, mitochondrial encephalopathy, lactate acidosis, stroke-like episodes) is a disease caused by point mutations in mitochondrial DNA.
Cairns-Seyr syndrome - this disease was first described in 1958. The majority of cases are caused by large deletions of mtDNA with a length of 2-10 thousand bp. The most widespread deletion is 4977 bp long. Extremely rare are duplications or point mutations.
Pearson's syndrome was first described by N.A. Pearson in 1979. It is based on large deletions in mitochondrial DNA, but they are localized mainly in the mitochondria of bone marrow cells. In most cases, Pearson's syndrome occurs sporadically.
Mitochondrial diseases are a large heterogeneous group of hereditary diseases and pathological conditions caused by structural disorders, mitochondrial functions and tissue respiration. According to foreign researchers, the incidence of these diseases in newborns is 1: 5000.
When thrombocytopenia is absent, the proteins of cow milk can be considered a kind of allergen that causes severe thrombocytopenia with a high mortality (60%), which is a consequence of the morphological or functional inferiority of the megakaryocytes of the bone marrow, characteristic for this disease. Surgical interventions also become a stressor that causes thrombocytopenia.
Klinefelter syndrome is the most common cause of hypergonadotropic hypogonadism in boys. The frequency of this syndrome corresponds, according to different authors, 1. 300-1: 1000 newborn boys.
CHARGE-association - a symptom complex of congenital defects of the eyeball (colobomas), heart defects, atresia of the khohan, hypoplasia of the vulva and anomalies of the auricle in children with a delay in physical development.
The spectrum of congenital malformations is very wide and more than 2/3 of these defects are located in the lower segment of the body (defects of the distal parts of the intestine, genito-urinary anomalies, pelvic bone and lower limbs).
