RareSpeak
Frequently Asked Questions

Frequently Asked Questions

What is spinal muscular atrophy (SMA)?

SMA is a condition that significantly impacts physical strength by damaging motor nerve cells in the spinal cord. This leads to challenges in performing essential activities such as walking, eating, and even breathing. To better understand SMA and its effects, explore more information.

The earliest indication of SMA Type 1 often appears as reduced muscle tone in infants, commonly referred to as hypotonia or ‘floppy baby syndrome.’ In SMA Types 2 and 3, older infants or toddlers may show delays in achieving physical milestones or may not achieve them at all. Learn more about the symptoms of SMA.

Receiving an SMA diagnosis can bring a whirlwind of emotions—confusion, fear, frustration, or uncertainty. These feelings may shift throughout the day, and that’s completely normal. Remember, you’re not alone. By connecting with RareSpeak, you’ve joined a community of individuals, families, researchers, and healthcare professionals all working together to create positive change.

SMA is an inherited condition caused by a recessive genetic mutation. For a child to be affected, both parents must carry and pass on the altered gene. When two carriers have a child, there is a 25% likelihood that the child will inherit SMA.

Around 1 in 50 individuals carries the genetic marker for SMA. While carriers do not develop the condition themselves, they can pass the altered gene to their children. Genetic testing can help identify carrier status. Those who are carriers have various reproductive choices, such as prenatal testing or preimplantation genetic diagnosis (PGD).

RareSpeak shares insights on various health challenges linked to SMA, such as respiratory care, dietary considerations, musculoskeletal concerns, and the use of medical devices. This information serves as a helpful resource for individuals living with SMA, their families, caregivers, and healthcare professionals.

Palliative care focuses on alleviating symptoms and providing relief without directly addressing the root cause of a disease. While often linked to end-of-life care, its scope is much wider. The goal is to offer comfort and support, ensuring a better quality of life across physical, mental, social, emotional, and spiritual aspects.

RareSpeak is dedicated to supporting the entire SMA community, including those responsible for providing care—such as physicians, specialists, nurses, nurse practitioners, genetic counselors, therapists, nutritionists, social workers, and others. We focus on educating healthcare professionals to improve care quality and expand the resources available to individuals with SMA. Collaborating directly with clinicians, medical doctors, specialists, and experienced caregivers, we work to ensure patients receive the highest standard of care.