Rare Disease Report

ALS Expert Mary Sedarous Discusses Early Presentation

AUGUST 10, 2017
Mary Sedarous, M.D.

Mary Sedarous, M.D., is a neurologist and a neuromuscular physician who serves as the Medical Director of the ALS Clinic at Hackensack Meridian Hospital in New Jersey, and the Robert Wood Johnson Medical Student Site Director for Neurology Clerkship at the Jersey Shore University Medical Center.
Prior to her work with amyotrophic lateral sclerosis (ALS), Sedarous considered the condition to be an “untreatable entity” and assumed that there weren’t many services that physicians could provide to patients. Now, she knows that the impact that an ALS clinic can have on both people with this rare disease and their families is immense.
In this video, she discusses early presentation of the disease, and how others can help in beginning to recognize its symptoms.
Sedarous: Typically, an ALS patient will present with either a weakness in a limb, like an arm or a leg, or weakness in a muscle that involves the face, such as the tongue or swallowing issues or changes to the voice. What you will typically hear from patients is a weakness that is not associated with a pain component and doesn’t have numbness or tingling sensations associated with it. A lot of times, patients will not even recognize that weakness because initially it happens slowly enough that they somehow compensate for it. It’s not until later when they either start falling or dropping objects, or their speech changes enough that someone else also appreciates it, that they come to medical attention with those symptoms.
The work-up usually entails excluding all other possible causes. Unfortunately, now, we don’t have biomarkers for the disease. Unlike having a heart attack, you can’t send for blood work and test someone for a heart attack and say, “Oh, you’re having a heart attack.” ALS doesn’t have a biomarker that we can just check and say, “You have ALS.” Part of that may be because we don’t know exactly the pathophysiology. We know components of it or things that contribute to the progression of the disease.
In some familial cases where ALS is hereditary, we have ideas of what sort of proteins may be implicated in the disease, but what initiates the process, and exactly what are the key players? Although we have ideas, we don’t have biomarkers to hone down on a quick diagnosis early on in the disease. That’s one of the problems we are facing when trying to manage ALS patients, as well.
For the latest videos with information from experts within the rare disease community, follow Rare Disease Report on Facebook and Twitter!

Stay informed on the latest rare disease news and developments by signing up for our newsletter.
Copyright © RareDR 2013-2018 Rare Disease Communications. All Rights Reserved.