History of MJD & IJDF

Prepared by Rose Marie Silva for IJDF. March 18, 1994.

In 1972, physicians in Massachusetts examined a Machado family for its neurological problem. Physicians noted that what they saw was a "new" disease entity, affecting this particular family whose ancestry was Portuguese from the Azores Islands. Examining physicians identified this neurological problem as Machado disease. The Joseph family of California held it's first clinic in 1975 under the sponsorship of the National Genetics Foundation of New York. During this clinic, examining physicians from California and Texas recognized that the Joseph family had a disorder never before described in medical journals. These physicians realized they would be defining a "new" disease entity. Because Antone Joseph was the first relative on the family tree known to be affected, the disorder was called Joseph disease. The Joseph family's ethnic background was Portuguese from various Azores Islands. Since both the Machado and Joseph families were Portuguese from various Azores Islands physicians believed, for a period of time, that only persons of Portuguese descent from the Azores Islands could be affected or at-risk for the two disorders.

With the advent of a new disease entity, Joseph family members, friends and professionals joined together in 1977 to form the International Joseph Diseases Foundation, a non-profit corporation. Members of the new Board of Directors and physicians were aware of Machado disease and other existing disorders affecting persons of Portuguese ancestry. It was decided to make the word disease plural in the new foundations name to encompass these other neurological diseases.

In 1979, scientists working with the Joseph family established, through clinical and pathological studies, that Joseph disease could be expressed in three different ways, with varying symptoms and ages of onset of the disease. Medical researchers have documented the three types of the disease in scientific articles. Due to this variation, Joseph Disease has been referred to as a mysterious disease. During the year, 1980, research teams concluded that both Machado and Joseph disease could be clinically expressed as Type 31. Because Machado and Joseph disease are considered to be one and the same, about the year 1981, medical researchers began referring to the disorder as Machado-Joseph disease or MJD: Machado for the first family described and Joseph for the largest family affected.

With the publication of medical articles written by teams of scientist researching both Machado and Joseph disease in the United States, Canada and Portugal, other physicians from within the United States and from other countries realized that some of their patients were also expressing symptoms of the disease. In 1980, it was medically established that the disease can affect persons of other ethnic backgrounds, not just those of Portuguese descent. Due to increased knowledge and worldwide education, Machado-Joseph disease has been documented on five continents. Countries where patients have been reported in medical articles include Japan, China, India, Brazil, the Azores Islands, Spain, Canada, Australia, Taiwan, Italy, and the United States (and possibly other countries from which we have not heard.)

Machado-Joseph Disease is truly an international disorder, affecting its victims in very much the same way with the same type of inheritance pattern hence, the MJD gene has been referred to by physicians as a "traveling gene."

In April of 1983, during the annual meeting of the American Academy of Neurology in New York City, medical researchers from Japan announced that they had mapped the MJD gene to chromosome 14q. Researches in the United States, Canada and Portugal have since confirmed the finding of the Japanese scientists. Worldwide research, at the present time, is directed toward isolating and cloning the MJD gene. When this has been accomplished, a marker and a treatment will be forthcoming for the many victims of the disease and for those who are at risk to inherit this disorder, medically referred to as an autosomal dominant spinocerebellar degeneration.

The first international symposium on Joseph disease, held in Lisbon, Portugal, was sponsored by the Calouste Gulbenkian Foundation of Lisbon and International Joseph Disease Foundation of Livermore, California. This first meeting of physicians from the United States, Canada and Portugal allowed participants to share their findings and to join forces to combat the "new" disease entity, now estimated to be more than 1,000 years old. Following the symposium of 1980 and through 1987, IJDF sponsored additional clinics in the states of California, Massachusetts, Rhode Island and Florida from which participating physician-scientists gathered data on the disease for research purposes and documented their findings in medical journals.

In June of 1991, the second international symposium on the disorder was held in Bethesda, Maryland, with US Federal funds appropriated for the sponsorship by the National Institute of Neurological Disorders and Stroke. Physicians from all over the world participated, making this symposium very historical in the sense that a worldwide effort to combat Joseph disease was underway. As a result of this meeting, physicians returned to their home countries or states, pursuing further research studies on Machado-Joseph disease. Since the international gathering of physicians, the MJD gene has been traced to Chromosome 14q. Scientists are now one step further in solving the mysteries of Machado-Joseph disease and in providing treatment for MJD patients.

The IJDF is a charter member of the National Organization of Rare Disorders (NORD) and the Alliance of Genetic Support Groups. IJDF supports the work of the National Foundation for Brain Research in its efforts to improve public awareness and support for scientific research on the brain and its disorders.