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Spinal Muscular atrophy

SMN1-related (5q) spinal muscular atrophy

An inherited condition in which loss of motor neurons causes progressive muscle weakness; most cases are due to loss of both working SMN1 copies.

MEDLINEPLUS GENETICS IDENTIFIERSpinal muscular atrophyView source record ↗

Overview

EXPLORE BY LEVEL

Spinal muscular atrophy affects the nerve cells in the spinal cord that control muscles. Without enough SMN protein these cells are lost, and muscles become weak.

Quick Facts

AT A GLANCE
Associated geneSMN1 (severity modified by SMN2 copy number)
InheritanceAutosomal recessive
Target levelGene-level (not a serologic or infectious-disease test)

Follow the Connections

See how Spinal Muscular atrophy links to other biological records.

Open network
GeneSMN1pathogenic variants cause
All 1 Structured Connections
SMN1 · GenePATHOGENIC VARIANTS CAUSE →Spinal Muscular atrophy · Disease

Recommended Reading

Trusted references for learning more about Spinal Muscular atrophy.

databaseSpinal muscular atrophyMedlinePlus Genetics databaseSMN1 geneMedlinePlus Genetics
Research Claims

Genetic testing for SMA usually measures SMN1 exon 7 copy number, and SMN2 copy number is used as a prognostic modifier. Therapies raise SMN protein by changing SMN2 splicing or by delivering SMN1. Copy-number results need clinical genetic interpretation because some carriers have two SMN1 copies on one chromosome.