Obzor sobstvennykh i literaturnykh dannykh o molekulyarnoi prirode samogo chastogo monogennogo nervno-myshechnogo zabolevaniya – proksimal'noi spinal'noi myshechnoi atrofii (SMA). Rassmotreny osobennosti struktury gena SMN1 i ego psevdogena SMN2, mutatsii, narushayushchie rabotu gena SMN1, struktura i funktsii neirotroficheskogo belka Smn, ego rol' v biogeneze malykh yadernykh ribonukleoproteinov (myaRNP), printsipy i slozhnosti molekulyarnoi diagnostiki SMA. Izlagayutsya sovremennye podkhody i nekotorye perspektivy gennoi i kletochnoi terapii etogo zabolevaniya, a takzhe farmakogeneticheskie metody korrektsii funktsii psevdogena SMN2, privedeny sobstvennye rezul'taty dlitel'nogo lecheniya bol'nykh SMA preparatami val'proevoi kisloty.

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