Tubulopathies Congenital

Tubulopathy is a group of hereditary diseases that are associated with dysfunction of tubulin, a major component of the cytoskeleton. Tubulins are proteins that form microtubules in cells and ensure their proper organization.

Tubulopathies can be caused by various genetic mutations that impair the synthesis or function of tubulins. These mutations can occur in both germ and somatic cells, leading to the development of various forms of tubulopathies.

There are several types of tubulopathies, each of which is characterized by its own specific symptoms and clinical manifestations. Some of them can lead to the development of serious diseases such as muscular dystrophy, myopathy and others.

Treatment of tubulopathies can be complex and include drug therapy, surgery and rehabilitation measures. However, in most cases, tubulopathies are hereditary diseases and their treatment can be difficult.

Tubulopathy

Congenital

Tubolopathies are the most common among congenital neurological disorders. In the vast majority of cases at the present stage of development of medicine, these are hereditary pathologies. The cause of these diseases is either one of the modifications of the genes responsible for the production or regulation of any element of the neurotubule, or the presence of alternative nucleotide sequences in them.

There are cases of doubling of repeating nucleotropic sequences, their inversion, transition of amino acid chains and other changes. The likelihood of such chromosomal changes increases with increasing age of the parents, as well as with more frequent marital contacts.

Spinal and cerebellar forms of meiosis disorders are transmitted hereditarily. To date, about ten of them have been identified. Manifestations of this type of mutation are the absence or abnormalities of neurotubule channels and disruption of the processes of their synthesis. Gender affects the severity of the disease, men suffer much less often than girls, the ratio is approximately 2 to