National Organization for Rare Disorders and Rare Disease Experts Publish Guide to Promote Diagnosis and Treatment for Patients
DANBURY, CT–(Marketwired – June 28, 2016) – As part of its ongoing series to promote physician awareness of rare diseases, the National Organization for Rare Disorders (NORD) has published a Physician Guide to Mitochondrial Myopathies, available free online to medical professionals around the world.
The NORD Physician Guide was written by two widely acknowledged experts on this topic, Dr. Michelangelo Mancuso of University Hospital of Pisa, Italy, and Dr. Michio Hirano of Columbia University Medical Center in the U.S. It can be accessed from NORD’s primary website at www.rarediseases.org or at NORDPhysicianGuides.org.
“People who have rare diseases often go for many years without a diagnosis,” said Marsha Lanes, MS, CGC, a genetic counselor in NORD’s Educational Initiatives Department. “The purpose of NORD’s free online physician guides is to reduce the time to diagnosis and encourage optimal treatment for patients with little-known and little-understood rare diseases.”
Mitochondrial diseases affect the mitochondria — small, energy-producing structures that serve as “power plants” for cells. Mitochondrial myopathies are a group of mitochondrial diseases caused by mutations in genes that predominantly affect skeletal muscle leading to muscular and neurological problems that can include muscle weakness, exercise intolerance, seizures, learning disabilities, impaired vision, heart defects, diabetes and stunted growth. These conditions are difficult to diagnose. Signs and symptoms can vary widely even in affected individuals from the same family.
NORD is a federation of disease-specific rare disease patient organizations, and two of its more than 250 member organizations provide extensive programs and services for individuals and families living with mitochondrial disease. These are theUnited Mitochondrial Disease Foundation and MitoAction.
As the primary nonprofit organization representing Americans with rare diseases, NORD established its Physician Guide series as part of a broader strategic initiative to promote earlier diagnosis and state-of-the-art care for all people with rare diseases. Each online guide is written by a medical professional with expertise on the topic. The guides cover signs and symptoms, diagnosis, treatment, investigational therapies, standard therapies, and related topics.
Other recent guides in the series include The NORD Physician Guide to Paroxysmal Nocturnal Hemoglobinuria (PNH), The NORD Physician Guide to Atypical Hemolytic Uremic Syndrome (aHUS) and The NORD Physician Guide to Nontuberculous Mycobacterial Lung Disease.
The Guide to Mitochondrial Myopathies was made possible by an educational grant from Stealth BioTherapeutics. NORD and the authors are solely responsible for the content.
About the National Organization for Rare Disorders (NORD)®
The National Organization for Rare Disorders (NORD)® is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of the 7,000 rare diseases that affect 30 million Americans, or 1 in every 10 people. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 30 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research, and providing patient and family services for those who need them most. NORD represents more than 250 disease-specific member organizations and collaborates with many other organizations in specific causes of importance to the rare disease patient community.www.rarediseases.org.