
Spinal Muscular Atrophy - GeneReviews® - NCBI Bookshelf
Feb 24, 2000 · 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 …
SMA (Spinal Muscular Atrophy): What It Is, Symptoms & Types
Spinal muscular atrophy (SMA) is a genetic condition that causes worsening muscle weakness. There are five subtypes, which range in severity and age of onset. There’s no cure for SMA, …
Spinal Muscular Atrophy: Mutations, Testing, and Clinical …
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 causes severe …
Spinal muscular atrophy - Wikipedia
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3][4][5] It is usually diagnosed in infancy or early …
Spinal Muscular Atrophy - National Institute of Neurological …
Jul 30, 2024 · The most common form of SMA is caused by changes in a gene known as the survival motor neuron gene 1 (SMN1). Traditionally, there are five types of this form of SMA, …
What is SMA (Spinal Muscular Atrophy)? | SMN1 & SMN2 Genes
Learn about the biology, genetics, and causes of SMA, and how the SMN1 gene, SMN2 gene, and SMN protein affect SMA disease.
Spinal muscular atrophy: MedlinePlus Genetics
Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve …
Causes/Inheritance - Spinal Muscular Atrophy (SMA) - Diseases ...
What are the genetic causes of SMA? The most common form of SMA (types 1-4) is caused by a defect (mutation) in the SMN1 gene on chromosome 5. (People have two SMN1 genes — one …
Spinal Muscle Atrophy - StatPearls - NCBI Bookshelf
Jul 17, 2023 · Spinal muscular atrophy (SMA) denotes a collection of inherited clinical syndromes causing degeneration of anterior horn cells in the spinal cord with associated destruction of …
Spinal Muscular Atrophy (SMA) - Johns Hopkins Medicine
Most forms of SMA are caused by mutations of the survival motor neuron 1 gene (SMN1) on the fifth chromosome, resulting in insufficient expression levels of the SMN protein. SMN is …