Page 4 - Neuromuscular | UR Medicine

Rare neuromuscular diseases affect up to 30 million people worldwide.

Solving the Genetic Mystery behind FSHD World Leaders in Clinical Trials for DMD

Facioscapulohumeral Muscular Dystrophy (FSHD) is Duchenne muscular dystrophy (DMD) is the most
the third most common form of muscular dystrophy, common form of muscular dystrophy affecting children.
affecting more than 500,000 people worldwide. While not The disease, which affects boys almost exclusively,

fatal, the disease can lead to significant disability. Our progresses rapidly from toddlerhood. Untreated children
faculty, working with an international team of researchers, can end up in wheelchairs before they become teenagers,
helped to settle a long-standing question about the roots and it is often fatal by the time a patient reaches his 20s or
of FSHD. A study, which appeared in the journal Nature early 30s. Robert “Berch” Griggs, M.D. ’70M (Res),
Genetics, has solved the complex genetic mystery behind ’71M (Res), specializes in neuromuscular diseases with
a rare variant of FSHD, called type 2. They discovered a focus on experimental therapeutics. Patients around
the disease is the result of two unrelated genetic flaws the world seek his help. In January 2013, Griggs and
that come together to ultimately produce toxins that his colleagues launched the largest clinical trial ever
damage muscle cells and trigger the disease’s symptoms. conducted in Duchenne muscular dystrophy to improve

This amazing discovery has helped physicians around the treatment of the disease throughout the world, and
the world better diagnose FSHD patients, and has helped develop a cure.
guide research that could lead to new treatments.
Locally, the annual MDA Elmira Cure Classic Invitational
Golf Tournament and the Curran Family Research Fund
are making it possible to help us improve care for muscular
dystrophy. Established in 1999 by Dr. Thomas Curran,
the tournament’s annual net proceeds fund our muscular
dystrophy research led by Dr. Griggs—in the hope that a

cure can soon be discovered. This continued support helps
improve the current and future treatment of boys with
Duchenne muscular dystrophy around the globe.

Hope is on tHe Horizon for patients witH Myotonic DystropHy type 2

Michael and Sherry Goldberg’s son suffered for many years before learning he

had Myotonic Dystrophy Type 2 (DM2). Unfortunately, his experience is not
unusual. On average, it takes more than a decade and a battery of expensive
tests to definitively diagnose DM2, and then it is difficult to find neurologists

who specialize in treating the disease. In addition, very little research funding is
dedicated to finding new therapies.
Sherry and Michael Goldberg
On a trip to Israel, a researcher at the Hadassah Medical Center in Jerusalem told
the Goldbergs that research on DM2 was being done at the University of Rochester Medical Center. Shortly
thereafter, Michael and his son traveled from their home in Chicago to Rochester and met with neurologist