SMA registry in Russia


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.


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