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Rare Disease Roadmap: Spinal Muscle Atrophy

Journey Overview

Navigate your journey with Spinal Muscular Atrophy with insights from a leading physician, questions to help you prepare for your appointments, and a guide to the healthcare providers who treat this rare neuromuscular disease.

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A Patient’s Journey with Spinal Muscular Atrophy

Amy B.

Diagnosis (DX): Spinal Muscular Atrophy

First Symptoms:

Muscle weakness
Decreased muscle tone
Problems breathing, eating, and swallowing

Affects 10,000 to 25,000 people in the U.S.
Caused by genetic mutations present at birth
SMA Types 1 and 2 are the most common
Most cases manifest before 18 months

Spinal Muscular Atrophy: A Physician’s Perspective

Four Answers from Dr. Michelle Allen-Sharpley, MD

Specialty: Physician and clinical instructor specializing in pediatric neurology and neuromuscular medicine.

“Scientific advancements have significantly improved outcomes in patients with SMA. Stay active and mobile as much as you are able and make sure your mental health receives as much attention as your physical health.”

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Get to Know Your Care Team

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.

The Conversation: Questions to Ask Your Doctor

Discussing your condition can be difficult. Here are some helpful conversation starters to jumpstart your doctor discussions.

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?A

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