Neurological Autosomal Recessive Treatment Available

Spinal Muscular Atrophy

A genetic neuromuscular disease affecting motor neurons, causing progressive muscle weakness. New treatments have transformed outcomes.

Genetic Information

Associated Gene

SMN1

Inheritance Pattern

Autosomal Recessive

Carrier Frequency

1 in 50

Signs and Symptoms
  • Progressive muscle weakness
  • Loss of motor function
  • Breathing difficulties
  • Swallowing problems
Treatment and Management
Treatment is available for this condition.

Gene therapy (Zolgensma), antisense oligonucleotides (Spinraza), SMN2 splicing modifiers (Evrysdi)

How Is It Inherited?

This condition follows an autosomal recessive inheritance pattern. This means:

  • Carriers (1 copy) are typically healthy with no symptoms
  • Affected individuals (2 copies) have the condition
  • If both parents are carriers: 25% chance with each pregnancy that the child will be affected
Carrier testing is recommended for individuals with a family history or from populations with higher carrier rates.
Medical Reference

For detailed clinical information, visit the GeneReviews article:

GeneReviews: Spinal Muscular Atrophy
Quick Facts
Category Neurological
Inheritance Autosomal Recessive
Gene(s) SMN1
Treatable Yes
Have Questions?

Speak with a board-certified genetic counselor to learn more about this condition and what it means for you.

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Resources
GeneReviews Article OMIM Database ClinVar Variants MedlinePlus Genetics
Disclaimer: This information is for educational purposes only and should not replace professional genetic counseling. If you have questions about genetic test results, please consult with a certified genetic counselor.