Journey Overview

Spinal muscular atrophy (SMA) is a group of rare genetic disorders that cause a loss of motor neurons. Motor neurons are a type of nerve cell found in the brain and spinal cord. Signals from the central nervous system travel through motor neurons, enabling voluntary and involuntary muscle movements. As motor neurons are lost, muscles do not receive signals, and muscle tissues weaken, shrink, and atrophy.

The most common type of SMA primarily affects muscles in the back, upper arms, upper legs, and hips. SMA can also affect the muscles needed for breathing and swallowing. Most types of SMA begin in childhood, though some occur later in life.

If you or a loved one has been diagnosed with SMA, this guide can help you understand the healthcare providers you’ll work with, the questions to ask at appointments, and how SMA can be managed.

Get to Know Your Care Team

A person managing SMA will work with a team of healthcare providers with different specialties. This team can include:

  • Neurologist

    Treatment for SMA is different for every person and involves a multidisciplinary team of healthcare providers with different specialties. Treatment is often overseen by a neurologist, a medical doctor with specialized training in the diagnosis and treatment of diseases that affect the nervous system.

  • Primary Care Provider

    A primary care provider (PCP) oversees overall medical care, including preventive care and screenings. For people with SMA, PCPs can help address new or ongoing symptoms, coordinate care, and provide referrals to specialists. For people under the age of 18, a primary care provider will be a pediatrician.

  • Physical & Occupational Therapists

    Physical and occupational therapists are essential to treatment and improving the quality of life for people who have SMA. Physical therapy focuses on exercises to improve muscle strength and mobility. Occupational therapy focuses on assessing and improving a person's ability to perform daily tasks.

  • Other Specialists & Providers

    People with SMA and their families will also work with medical geneticists and counselors with specialized training in genetic disorders. A healthcare team may include a respiratory therapist, cardiologist, speech pathologist, pulmonologist, registered dietitian, social worker, and specialized nurses.

Treatment for SMA

  • There is no cure for SMA. Treatment focuses on slowing disease progression, supporting quality of life, and managing symptoms and complications.
  • Treatment is individualized, based on the type of SMA a person has, their symptoms, and their needs.
  • Several disease-modifying therapies have become available since 2016. While these therapies cannot cure SMA, they can help slow the progression of certain types of SMA.
  • Treatment plans include physical and occupational therapy to support mobility and daily functioning, as well as breathing support, speech therapy, and nutritional therapy as needed.
  • Genetics counseling is recommended for people with SMA and families.

Your best source of information about treatment and management will be your healthcare team. Work with your providers to understand what treatment options are available, how treatment needs can evolve over time, and how to prepare for emergencies.

The Conversation: Questions to Ask Your Doctor

SMA is a lifelong condition, and the treatment a person with SMA needs can change and evolve over time. Good communication with your healthcare providers is essential to successfully managing SMA. Use this guide to help during appointments.

Before Your Appointment

Take a moment to consider these questions. It can help to bring notes on what you want to discuss.

  • Are there any new symptoms or changes in symptoms? Changes can be worsening of symptoms or improvements.
  • Is there any aspect of SMA that is difficult at the moment?
  • How do you feel about the current treatment plan?
  • What are your top health concerns at the moment?
  • How are your stress levels? Your overall mental health?
  • Do you have any concerns about the cost of treatment?
  • Do you have a plan for healthcare emergencies?

During Your Appointment

Use your answers to the questions above to prioritize the topics you want to discuss with your neurologist and the other members of your healthcare team. Other questions you may want to discuss:

  • Do you recommend any changes to the treatment plan?
  • Are there any lifestyle changes we should make?
  • Are there any other healthcare providers we should be working with at this moment?
  • Are there any concerning signs or symptoms we should be watching for?
  • What are the next steps in treatment? What are our next treatment goals?
  • Are there any new therapies available for SMA? How do these therapies compare to what is already available?
  • Are there any clinical trials that are recruiting? Should we consider applying to a clinical trial?
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