DR. ADE T. MILHORAT

In the 1930s, doctors had no treatment or hope to offer people with muscular dystrophy. Knowledge of genetics was elementary. Children who couldn't walk often remained isolated at home. And a scientist who wanted to study a rare disease relied largely on contributions from affected families.

But one doctor could see a very different future. Fascinated by genetics since his college days, Dr. Ade T. Milhorat then studied muscle diseases on a fellowship in Germany. When he returned to the United States in 1932, he decided to devote his career to muscular dystrophy -- one of a tiny handful of American physician-scientists to do so.

Milhorat believed that, if he could pull together current knowledge of genetics, muscle physiology and other areas of science, and if he could study muscular dystrophy patients closely, he could develop enough understanding of muscle disorders to offer patients alleviation of some symptoms and real hope for a cure. To do this, he needed the backing of a strong organization dedicated to conquering the destructive, baffling diseases of muscle.

Milhorat saw this vision become reality, on a scale much larger than he'd dreamed. By the time of his death on June 26 in Barre, Vt., at the age of 98, the pioneering scientist who helped found the Muscular Dystrophy Association had witnessed revolutionary progress in neuromuscular science, treatment of symptoms, social attitudes toward disability and the hope for cures.

"Dr. Milhorat started his research when almost nothing was known about how muscles worked," MDA National Chairman Jerry Lewis said. "Without his pioneering work, we wouldn't be where we are today in MDA's research program -- on the verge of effective treatments through gene therapy."

Milhorat graduated from Cornell University Medical College in 1928 and spent two years as a medical fellow at the University of Leipzig (Germany). In 1932, he joined the faculty of his alma mater in New York, where he was appointed professor of clinical medicine in 1956 and became professor emeritus in 1964. In the 1940s, Milhorat established the country's first laboratory and hospital care facility for study and treatment of those with neuromuscular diseases at New York Hospital-Cornell University Medical College. His study of blood levels of the muscle protein creatine in his Duchenne muscular dystrophy patients was one of the first clinical investigations of the disease.

Milhorat also set up a makeshift school for some of the boys he studied, who weren't allowed to attend public schools. He also studied family patterns of neuromuscular disease in order to understand genetic factors.

Expansion of his work was made possible by a grant from Philip Armour of Chicago's Armour Meat Packing Company, who had four grandchildren with muscular dystrophy. However, this funding was terminated after a few years.

BIRTH OF MDA

Another of Milhorat's patients was Paul Cohen, an energetic New York businessman who was affected by facioscapulohumeral muscular dystrophy. The two men became friends and had many long discussions about forming an organization to push muscular dystrophy research forward.

On a spring night in 1950, Cohen and Milhorat, along with parents of some of Milhorat's younger patients, gathered in a Bronx apartment and created the Muscular Dystrophy Associations of America, with Cohen as president. Its purpose was to raise $20,000 annually to fund research.

In May, the MDAA granted Milhorat $1,500 to help continue his work. He was named chairman of the organization's Medical Board in June. In less than a year, the new organization had raised more than $30,000 to fund Milhorat's studies.

In addition to his own clinical studies, Milhorat alerted physicians and families to the importance of physical therapy and prevention of respiratory infections in children with muscular dystrophy. He explored potential drug treatments and helped the Association establish medical fellowships to encourage young doctors and scientists to specialize in muscular dystrophy. Milhorat's early studies also looked into the effects of diet, vitamins and other factors on muscle problems.

In 1952, Cohen met with Jerry Lewis to persuade the popular entertainer to get involved with MDAA. Lewis' visit with Milhorat was a key factor in his decision to say yes.

Over the next four decades, Milhorat's research built on new discoveries in genetics, protein synthesis of RNA and muscle physiology, and explored potential treatments. Acknowledged worldwide as the leading authority on muscular dystrophy for several decades, Milhorat published more than 150 scientific papers.

FAR-REACHING IMPACT

Milhorat helped shape MDA's rapidly developing research program (the organization was renamed the Muscular Dystrophy Association in the 1970s) by serving as a member of its Board from 1950 to 1970 and as chairman of its Medical Advisory Committee from 1950 to 1972. He was also director of MDA's Institute for Muscle Disease in New York City from its inception in 1959 through 1972.

After retiring from these positions, he served as a consultant to MDA and continued his research under MDA funding at the University of Vermont. He lived in Pelham, N.Y.

In the late 1940s, Milhorat became a member of the New York State Board of Medical Examiners, which he served as president from 1953 to 1956.

Milhorat's influence on his students at Cornell also had an impact on MDA. Several of his students became Association grantees. Another, the late psychiatrist Dr. S. Mouchly Small, served as MDA president for nine years.

Dr. Leon I. Charash studied with Milhorat in the 1950s and went on to become a pediatric neurologist, specializing in neuromuscular disorders of children. Charash is currently chairman of MDA's Medical Advisory Committee and a member of the Association's Board of Directors.

Charash said of Milhorat, "He'll go down in history as having brought muscular dystrophy to modern medicine's consciousness. I consider him one of the greatest people I've ever known."

In recognition of his substantial contribution to the field, Milhorat was named honorary president of the sixth quadrennial International Congress on Neuromuscular Diseases in Los Angeles in 1986. The congress was sponsored by MDA.

In 1991, Milhorat received the Association's first annual Jerry Lewis Research Award for his lifetime achievement in the study of neuromuscular disease.

Milhorat is survived by three children, Thomas, Edith and John. He was preceded in death by his wife, Edith.

Milhorat stated his philosophy as a scientist and a physician in an address he gave at a symposium in Germany to celebrate the 100th birthday of Wilhelm Erb, a 19th-century pioneer in the study of muscular dystrophy: "We must ever be mindful that our function as physicians is to cure when we can; if we cannot cure, let us treat if we can; and, if we cannot treat, let us comfort."