NORD Publishes Physician Guide to Mitochondrial Myopathies

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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 or at

“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 the United 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.

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