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Helping Spinal Muscular Atrophy Patients

Team Approach Aids in Restoring Mobility

New York (Mar 12, 2010)

Clinicians talk

Scratching an itch on your nose isn't anything most of us think about. But for patients with severe weakness from spinal muscular atrophy (SMA), it can be a monumental task.

A fruitful collaboration between individuals ranging from professors at Columbia University College of Physicians and Surgeons to undergraduate students at the School of Engineering and Applied Science of Columbia University has resulted in the development of a device to improve arm function in patients with SMA. Called "gravity-neutral orthosis" (GNO), the sling-like device is under evaluation and may make it possible for patients to accomplish simple but vital activities of daily living.

"There is so much talent at every level of our academic environment that when there is a patient problem that needs a solution, we can look around us and find the creative expertise right here," said Nancy E. Strauss. "When we formed a multidisciplinary team to find a way to help our disabled neuromuscular patients, we generated innovative, creative ideas that could translate into functional improvements."

About Spinal Muscular Atrophy

SMA is one of the most devastating neurological diseases of childhood. It affects an estimated 10 to 16 out of 100,000 infants and children, who suffer from progressive muscle weakness caused by degeneration of lower motor neurons in the spinal cord and brainstem.

This often severe muscle weakness makes it difficult, if not impossible, for patients to do work or move their extremities against the forces of gravity. A gravity-neutral environment, such as a swimming pool, can help patients move freely. But a pool environment is not suitable for accomplishing the activities of daily living.

Patients with SMA and their families often create homemade devices to help them get through the day, using any means they can to improve their function and independence. "When we have patients who are bright, engaging, and eager to interact with their environment, they have an overwhelming desire to move their arms in space to touch and control things and to interact with the environment," said Dr. Strauss.

But throughout many years of working with these patients, the NewYork-Presbyterian/Columbia specialists had not found an appropriate device to help them. A pulley system created by a physical therapist to suspend the weak limbs of a patient and facilitate movement served as the basis for the development of the GNO device.

The Promise of Gravity-Neutral Orthosis

A Clinical Translational Science Award (CTSA) from the Irving Institute for Clinical and Translational Research fueled the NewYork-Presbyterian/Columbia collaboration. Team members came together from Columbia University's College of Physicians and Surgeons, Mailman School of Public Health, School of Engineering, and undergraduate campus.

A gravity-neutral orthosis
A gravity-neutral orthosis

Petra Kaufmann, MD, in the Department of Neurology, and Elisa Konofagou, PhD, in the Departments of Biomedical Engineering and Radiology, are responsible for assembling this talented team. They were brought together through a CTSA initiative for promoting such collaborations, made possible through NIH funding awarded to Henry Ginsberg, MD, Director of the Irving Institute for Clinical and Translational Research.

The GNO device they created improves arm function for people with severe muscle weakness by eliminating the effects of gravity on their arms. They began assessing the device in individuals with SMA, and have expanded clinical trials to include individuals with Duchenne muscular dystrophy.

"Disability is a public health crisis, and we must work together to brainstorm and develop ways to minimize its effects on the lives of patients and their families," concluded Dr. Strauss. "Whether an undergraduate college student or a senior faculty member, everyone on this team learned from each other, and educational background and seniority became less important as we worked together toward a common goal."

To make an appointment with the Department of Rehabilitation and Regenerative Medicine at NewYork-Presbyterian/Columbia, call 212-305-3535.

Faculty Contributing to this Article:

Nancy E. Strauss, MD, is the Director of the Residency Training Program in Physical Medicine and Rehabilitation at NewYork-Presbyterian Hospital and the Executive Vice Chair in the Department of Rehabilitation and Regenerative Medicine at Columbia University College of Physicians and Surgeons.

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