Central Core Disease (CCD)

New Guidelines on Genetic Testing in Children

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

Facts About Myopathies

Last Updated: 
Tue, 12/01/2009 - 15:55

CCD — Francesco Muntoni

MDA awarded a grant totaling $375,000 to Francesco Muntoni, professor of pediatric neurology at University College London (UCL), United Kingdom, for research into the molecular mechanisms underlying central core disease (CCD) and multiminicore myopathies. Muntoni and Michael Duchen, professor of physiology, and cell and developmental biology, also at UCL, will work together, focusing on the mechanisms that lead to muscle weakness in the two diseases.

CCD/MH — Susan Hamilton, Ph.D.

MDA has awarded a research grant totaling $375,000 over a period of three years to Susan Hamilton, L.F. McCollum Chair in Molecular Physiology, department of molecular physiology and biophysics at Baylor College of Medicine in Houston. The funds will help support Hamilton’s study of the molecular mechanisms underlying a wide spectrum of muscle disorders including central core disease (CCD) and malignant hyperthermia (MH).

Study of Progression in CNM/MTM, CCD, Multiminicore Disease Is Open

Investigators at the University of Michigan in Ann Arbor are conducting a study of the progression of centronuclear myopathies (CNMs), including the type known as myotubular myopathy (MTM); central core disease (CCD) and multiminicore disease. The study is intended to:

MDA Awards $13.7 Million in Research Grants

The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association's program.

The new grants were recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases


What are inherited and endocrine myopathies?

Muscles affected by inherited and endocrine myopathies
Myopathies can cause weakness or stiffness in all of the body's voluntary muscles. Because muscles support the body's posture, muscle weakness can lead to skeletal deformities.

Inherited and Endocrine Myopathies


MDA leads the search for treatments and therapies for inherited and endocrine myopathies. The Association also provides comprehensive supports and expert clinical care for those living with inherited and endocrine myopathies.

In this section, you’ll find up-to-date information about inherited and endocrine myopathies, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.

Researchers Exploring Disability Perceptions

Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.