Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …

The term arthrogryposis is often used as shorthand to describe multiple congenital
contractures that affect two or more different areas of the body. Arthrogryposis is not a …

Many neuromuscular diseases are genetically inherited or caused by mutations in motor
function proteins. Two of the most prevalent neuromuscular diseases are Duchenne …

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder
caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in …

Genes linked to human diseases often function in evolutionarily conserved pathways, which
can be readily dissected in simple model organisms. Because of its short lifespan and well …

Purpose To determine feasibility and utility of newborn screening for spinal muscular
atrophy (SMA) in New York State. Methods We validated a multiplex TaqMan real-time …

Disclaimer: This guideline is designed primarily as an educational resource for health care
providers to help them provide quality medical genetic services. Adherence to this guideline …

Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting
from progressive degeneration and irreversible loss of the anterior horn cells in the spinal …

In the past decade, improved understanding of spinal muscular atrophy (SMA)
aetiopathogenesis has brought us to a historical turning point: we are at the verge of …

Objective: Homozygous deletions/mutations of the SMN1 gene cause infantile spinal
muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for …