Central Core Disease (CCD)

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

Overview

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

Description: 

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.

Muscle Disease Quality-of-Life Study Seeks Participants

Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence.

The study also is recruiting 30 adults with no neuromuscular disease.

Results will be used to identify ways that counselors and therapists can address specific factors considered important by people with congenital muscle diseases (present at or near birth).

CCD Research Mouse Sheds New Light on Human Disease

Since 1993 — when mutations in the RYR1 gene were first linked to central core disease (CCD)— researchers have been trying to figure out exactly how these mutations cause the disease and what can be done to combat their deleterious effects.

Now, investigators in the United States, Canada and Germany have added an important piece to the CCD puzzle, through careful studies of mice with a particular mutation in the RYR1 gene that commonly causes human CCD.

MDA Awards More Than $14 Million in Research Grants

MDA has awarded 38 new research grants totaling more than $14 million and covering more than a dozen neuromuscular diseases. 

MDA's Board of Directors met in Los Angeles July 16, where it reviewed and approved the new grants based on recommendations from the MDA Scientific and Medical Advisory Committees. Grants were scored and recommended for approval based on the capabilities of the applicant, the scientific merit of the project, and the proposal's relevance to developing treatments for the disease. The effective start date for all grants was July 1, 2010.

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