Perspectives
President of FSMA Discusses Spinal Muscular Atrophy Facts
Ultrasound of Fetal Spine Development
The Mobility Project recently had the opportunity to discuss spinal muscular atrophy (SMA) with Families of Spinal Muscular Atrophy (FSMA) President Kenneth Hobby. SMA is a genetic disorder affecting children. Hobby answers some of our most pressing questions about SMA.
TMP: What is SMA and how does it affect the body?
Hobby: SMA is a motor neuron disease. One in 6,000 babies born is affected by the disease. SMA causes the nerves in the spinal cord to stop working, which then affects the voluntary muscles in the body. Pulmonary and swallowing functions are affected with a high tendency for pneumonia and other respiratory problems. SMA is the No. 1 genetic killer of infants under the age of 2.
TMP: How is the disorder diagnosed and when?
Hobby: SMA is a genetic disease, and there are accurate blood tests available now for both the diagnosis of those affected and also for those who may be carriers. For most cases of the disease, babies are diagnosed within the first year as developmental milestones are missed. Diagnoses can occur prenatally or postnatal. Postnatal, there are usually observations of “floppy” baby syndrome (inadequate tone of the muscles).
TMP: What are the signs and symptoms?
Hobby: Parents and pediatricians will generally observe overall weakness in an infant affected by the disease. The symptoms develop as early as 3 months in the most severely affected, around 1 to 2 years of age in the moderately affected, and more rarely in late childhood or adult years in mildly affected individuals. Depending on the type — 1, 2, 3, or 4 — the time of onset varies, with the more severe, type 1, children regressing quickly.
TMP: How is the disorder contracted?
Hobby: One in 40 people are carriers of the genetic cause of SMA, which is approximately 8 million people in the United States. Because SMA is a recessive genetic disorder, both parents must be carriers of the genetic cause, and a one-in-four likelihood of each of their offspring carrying the disease ensues. A genetic counselor is a valued resource to parents considering conception as well as those recently diagnosed.
TMP: What is the life prognosis for those who have the disorder? What treatments are available?
Hobby: At the current time, we do not have a treatment or cure available for the disease. Families of SMA has taken an aggressive stand against SMA through funding for basic research, clinical trial initiatives and potential drug discovery programs that pave the way for possible treatments. FSMA and its scientific advisory boards have awarded over $55,000,000 in research funding. The goal of FSMA is to find an effective and safe treatment and cure for SMA.
TMP: What message of hope do you have for people affected by SMA and their families?
Hobby: We believe Families of SMA is a hope to both those affected and the families that support them. While we do not have the therapies we need yet, research progress has very recently moved into the stage of clinical trials with novel drugs designed for SMA. This is a long road, but the progress and the hope are real. It is a privilege to have this job and come to work every day wondering if perhaps this will be the day we move another step closer to a treatment or cure. It is humbling that we have editorial pieces that choose to educate, advocate and partner with us because it does “take a village.”
Find out more about SMA and FSMA here.