In Search of Spinal Muscular Atrophy Disease Modifiers.

The 5q Spinal Muscular Atrophy (SMA) is a hereditary autosomal recessive disease caused by defects in the survival motor neuron () gene encoding survival motor neuron (SMN) protein. Currently, it is the leading cause of infantile mortality worldwide. SMA is a progressive neurodegenerative disease with "continuum of clinical severity", which can be modulated by genetic and epigenetic factors known as disease modifiers (DMs).

Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.

Background: Fabry disease (FD) is a rare hereditary multisystem disease caused by variants of the gene. Determination of gene variants and identification of genotype-phenotype correlations allow us to explain the features of FD associated with predominant damage of one or another system, both in the classical and atypical forms of FD, as well as in cases with late manifestation and involvement of one of the systems.

Methods: The study included 293 Russian patients with pathogenic variants of the gene, which were identified as a result of various selective screening programs.

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in the ALPL gene which encodes tissue-nonspecific alkaline phosphatase (TNSALP). HPP is characterized by impaired bone mineral metabolism due to the low enzymatic activity of TNSALP. Knowledge about the structure of the gene and the features and functions of various ALPL gene variants, taking into account population specificity, gives an understanding of the hereditary nature of the disease, and contributes to the diagnosis, prevention, and treatment of the disease.

[Multilevel botulinum toxin treatment in severe spastic forms of cerebral palsy (GMFCS IV-V)].

Objective: To evaluate the most typical target muscles and dosages for the first and repeated botulinum toxin A (BTA) injections in cerebral palsy (CP) patients with severe motor deficit - GMFCS IV-V.

Material And Methods: A retrospective analysis of 677 protocols of the first and repeated Abobotulinumtoxin A (AboA) injections in 333 patients with CP GMFCS IV and V, aged 1 to 18 years, was carried out.

Results: Ninety-seven percent of patients received multilevel injections.

[Botulinum toxin type A (Incobotulinum toxin A) in spastic forms of cerebral palsy: a retrospective analysis of clinical experience].

Objective: A retrospective analysis of the experience of using Incobotulinum toxin A injections for the treatment of spasticity in children with cerebral palsy (CP).

Material And Methods: One hundred and eighty-five children with spastic forms of CP, including 114 boys (61,6%), were studied. The average age of the patients was 3,8±2,5 years; the average weight was 14,2±6,9.