[Experience of the treatment of spinal muscular atrophy type 3 Kugelberg-Welander with Nusinersen]. / Opyt lecheniya nusinersenom spinal'noi myshechnoi atrofii 3-go tipa Kugel'berga­Velander.

Before the advent of pathogenetic therapy, the diagnosis of spinal muscular atrophy (SMA) meant the loss of all hopes for recovery and the patient's setting on the path of a steady decline in motor functions, a deterioration in the quality of life and, ultimately, inevitable early death. Currently, new methods of pathogenetic therapy with nusinersen and risdiplam, as well as etiological therapy with onasemnogene abeparvovec, are available in the Russia. Nusinersen is an antisense oligonucleotide that modifies splicing of the SMN2 gene to increase production of normal full-length motor neuron survival protein, which is deficient in SMA. The mechanism of action of Nusinersen is based on the activation of the disabled exon 7 of the SMN2 gene. The article describes an example of long-term effective treatment using pathogenetic therapy of a patient diagnosed with SMA type 3.

[Inherited epidermolysis bullosa]. / Vrozhdennyi bulleznyi épidermoliz.

OBJECTIVE: To summarize an update on epidermolysis bullosa as a polymorphic group of inherited diseases with a failure of epidermal-dermal integrity. Emphasis is placed on the role of transmission electron microscopy in diagnosis and search directions for new types of the abnormality and its molecular markers. Despite numerous mutations in the genes encoding the components of desmosomes and epithelial basement membrane, the stereotyped manifestations of pathological processes in the group of epidermolysis bullosa have been identified. The paper gives a positive result of cell and gene therapies used by European scientists in the treatment of a 7-year-old child with borderline epidermolysis bullosa, which opens up new prospects for patients with butterfly disease that has long been considered fatal.