Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused by
mutations in the SMN1 gene. Despite the development of various therapies, outcomes can …

Rare diseases, defined by their low prevalence, present significant challenges, including
delayed detection, expensive treatments, and limited research. This study delves into the …

Spinal muscular atrophy (SMA) is caused by mutations in SMN1. SMN2 is a paralogous
gene with a C• G-to-T• A transition in exon 7, which causes this exon to be skipped in most …

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA)
following the availability of new treatment options. The New England Newborn Screening …

Precision medicine has emerged as a central element of healthcare science. Complement, a
component of innate immunity known for centuries, has been implicated in the …

Spinal muscular atrophy is an autosomal recessive neurodegenerative disease and the
most common genetic cause of infant mortality. The disease results in motor neuron loss and …

Aims Considering the substantial variability in treatment response across patients with
spinal muscular atrophy (SMA), reliable markers for monitoring response to therapy and …

Aim The aim of this study was to explore the lived experiences of patients afflicted with
spinal muscular atrophy. Background Existing research studies on spinal muscular atrophy …

Treatment and prevention of SMA are complementary responses to the scourge presented
by SMA. This review first describes the molecular genetics of SMA and then focuses on …

Purpose: To determine the copy number of survival motor genes using multiplex ligation-
dependent probe amplification. Methods: Three hundred seventy-three subjects were …