We present data of Russian Children Neuromuscular Center that was created to examine and diagnose patients with neuromuscular diseases. During last 5 years we collected a blood and genetic data of patients with Duchenne and Becker muscular dystrophies. To the date we gathered information about 657 patients (582 DMD and 75 BMD patients). SMA Registry now includes data about 727 patients: SMA type 1 - 164 patients, SMA type 2 - 349 patients, SMA type 3 - 200 patients, SMA type 4 - 1 patient, distal SMA - 5 patients, other SMA - 8 patients. New wave of gathering information from our neuromuscular patients was in 2018, when we started collect different data from patients with congenital muscular dystrophy type 1A (LAMA2 gene), collagen VI disorders (Ullrich and Bethlem CMD) - 60 patients, patients with FKRP related disorders - 15, patients with LGMDR1 (CAPN3 gene) - 17, patients with sarcoglycanopathies - 9, patients with LGMDR2 and Myoshi dysferlinopathies - 7, patients with Landousy muscular dystrophy - 8, and Emery-Dreifuss muscular dystrophy - 9, patients with RYR1 mutations - 15, and other congenital myopathies. Collecting blood and information provides additional information about the natural history of the disorders, genotype and phenotype correlations that possibly in future will help scientists to understand better pathogenesis and other factors that could influence on the course of the disease. We hope that this knowledge will allow us to determine the incidence and prevalence of diseases in specific populations and regions of Russia. This Registries will help to identify individual needs of patients and improve the quality of life, stimulate the development of basic science and molecular genetic technologies, which in the near future will be able to cure patients with neuromuscular disorders. Presence of a well-structured register allowed us to quickly recruit patients to current clinical trials, that was very actual for our DMD and SMA patients.

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder with progressive loss of motor neurons in anterior horns of the spinal cord and progressive muscle wasting that leads to early death due to respiratory failure. We present SMA registry in Russian Federation that was hold by SMA Family Foundation and Russian Children Neuromuscular Center. To the date registry includes data of 370 patients with SMA. By the types they distributed as follows: type 1 (Werdnig-Hoffmann disease) – 96 patients, type 2 (Dubowitz disease) – 180 patients, type 3 (Kugelberg-Welander disease)– 74 patients and distal SMA – 20 patients. 18 patients with distal SMA are not genotyped. All patients with SMN1 SMA are confirmed genetically with the deletion of exon 7, but only 70 of them are tested for number of copies of SMN2 gene. There was found an exon 7 deletion of SMN1 gene and a point mutation in another SMN1 gene in 7 patients. So there are 18 patients with SMA I type (10 patients has 2 copies and 8 has 3 copies); 37 patients with SMA II type (1 patient has 1 copy, 4 has 2 copies, 26 has 3 copies, 6 has 4 copies); 15 patients with SMA III type (1 patient with 2 copies, 7 with 3 copies, 4 has 4 copies, 3 has 5 copies). We have 51 patients with SMA I/II types who have tracheostomy and are using invasive ventilation support, 24 patients are using BiPAP frequently and 43 patients are using cough assist devices. Motor development in SMA patients in Russian Children Neuromuscular Center is usually assessed with validation functional scales: CHOP INTEND for SMA type I and Hammersmith Functional Motor Scale for patients with SMA types II and III. SMA Family Foundation provides standards of care for patients with SMA. Great number of SMA patients in Russia may be of great interest to pharmaceutical companies who develops new drugs to treat spinal muscular atrophy.