SPECTRUM OF SPINAL MUSCULAR ATROPHIES - POPULATION STUDY

A population medical genetic study of spinal muscular atrophies (SMA) was carried out in 1800 individuals in 6 russian and 3 middle asian re gions. 33 patients with SMA were ascertained including 29 with autosom al recessive childhood proximal SMA (SMA I-III) and 4 patients with ra re SMA types. There were revealed either overlapping of diagnostic cri teria of I-III types in some patients or interfamilial differences of types in 3 from 6 familial cases, (one of them with distant relatives affected) as weil as pronounced clinical genetic variability of rare f orms of SMA (all sporadic cases).