PREVIOUS QUESTION:

 

NEXT QUESTION:

 

What tests can help diagnose spinal muscular atrophy (SMA)?

ANSWER

Spinal muscular atrophy is caused by a faulty gene. Your doctor may order several tests to diagnose it, and to rule out other conditions. They include:

  • Blood test to check for missing or broken genes that can cause SMA
  • Nerve tests, such as an electromyogram to check if they are sending messages to the muscles
  • CT, or computed tomography. This is a powerful X-ray that makes detailed pictures of the inside of the body
  • MRI, or magnetic resonance imaging. This uses powerful magnets and radio waves to make pictures of organs and body parts
  • Muscle tissue biopsy. Cells are removed through a needle in the muscle or through a small cut in the skin

From: Spinal Muscular Atrophy WebMD Medical Reference

SOURCES:

Genetics Home Reference: "Spinal muscular atrophy."

KidsHealth: "Spinal Muscular Atrophy (SMA)."

MDA.org: "Spinal Muscular Atrophy."

Medscape: "Spinal Muscular Atrophy."

National Institute of Neurological Disorders and Stroke: "NINDS Spinal Muscular Atrophy Information."

Boston Children's Hospital: "Spinal Muscular Atrophy (SMA)."

Jennifer Trust for Spinal Muscular Therapy: "Adult Onset SMA."

Cure SMA: "Therapeutic Approaches."

New England Journal of Medicine : "Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy."

Muscular Dystrophy UK: "Developing a genetic therapy for spinal muscular atrophy."

Science Advances : "Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model."

Columbia University Department of Neurology: "Q&A on Spinraza Treatment for Spinal Muscular Atrophy (SMA) Patients."

Reviewed by Hansa D. Bhargava on May 23, 2019

SOURCES:

Genetics Home Reference: "Spinal muscular atrophy."

KidsHealth: "Spinal Muscular Atrophy (SMA)."

MDA.org: "Spinal Muscular Atrophy."

Medscape: "Spinal Muscular Atrophy."

National Institute of Neurological Disorders and Stroke: "NINDS Spinal Muscular Atrophy Information."

Boston Children's Hospital: "Spinal Muscular Atrophy (SMA)."

Jennifer Trust for Spinal Muscular Therapy: "Adult Onset SMA."

Cure SMA: "Therapeutic Approaches."

New England Journal of Medicine : "Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy."

Muscular Dystrophy UK: "Developing a genetic therapy for spinal muscular atrophy."

Science Advances : "Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model."

Columbia University Department of Neurology: "Q&A on Spinraza Treatment for Spinal Muscular Atrophy (SMA) Patients."

Reviewed by Hansa D. Bhargava on May 23, 2019

NEXT QUESTION:

How can I lower the risks from anesthesia?

WAS THIS ANSWER HELPFUL

THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for general informational purposes only and does not address individual circumstances. It is not a substitute for professional medical advice, diagnosis or treatment and should not be relied on to make decisions about your health. Never ignore professional medical advice in seeking treatment because of something you have read on the WebMD Site. If you think you may have a medical emergency, immediately call your doctor or dial 911.

    This tool does not provide medical advice. See additional information.

    Other Answers On: