Researchers correlate spinal muscular atrophy disease expression with haplotypes

(Clinic for Special Children) A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy (SMA) within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity. SMA is a devastating genetic disease that affects the motor neurons that control movement, eating, and breathing. The observations were conducted within a population-specific framework to elucidate subtle differences in disease expression and the subsequent impact of disease-modifying therapies administered early in life.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news