Latest News

Researchers correlate spinal muscular atrophy disease expression with haplotypes

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. It represents the leading genetic cause of infant death worldwide, with an incidence of approximately 1 per 10,000 newborns worldwide and as many as 1 per 2,800 babies of Mennonite descent. 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. Forty-two Mennonite and fourteen Amish patients with SMA were included in the study by practitioners and researchers at theClinic for Special Children in Strasburg, PA. The study is published online today in PLOS ONE.

Source link




Related posts

Mitochondrial Function, Oxidative Stress and Parkinson's Disease

Newsemia

Tenon Medical announces FDA 510(k) clearance for sacroiliac joint fusion system

Newsemia

Can zinc deficiency affect the development of autism spectrum disorders?

Newsemia

This website uses cookies to improve your experience. We'll assume you're ok with this, but you can opt-out if you wish. Accept Read More

Privacy & Cookies Policy