Endocrine Myopathies


Alan Beggs
Alan Beggs at Harvard University has had MDA support to study the molecular genetics of inheritable myopathies.

With MDA’s support, scientists have made significant progress toward understanding and treating the inherited myopathies.

Medical Management

Some myopathies, especially when they’re present from birth, have life-threatening complications. But, with time and physical therapy, some people born with myopathies can gain muscle strength. Others often can manage their symptoms through medication, lifestyle modifications, or use of orthopedic and respiratory equipment.

Myopathies aren’t caused by overexertion. However, exercise can aggravate some of the myopathies, because of mutations that change the way muscles respond to activity.


This section addresses the following:

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.

Does Spirituality Influence Acceptance of Disability?

With approximately 54 million Americans living with disabilities, exploring and understanding factors that might facilitate or hinder acceptance of one’s disability may be an important area of research.

But what exactly is the relationship between religious/spiritual attitudes and acceptance or lack of acceptance of disability for people with neuromuscular disorders?

Study Seeks People With Uncertain MD Diagnoses

A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD),or an unclassified myopathy(muscle disease)who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or pathologic diagnostic marker that confirms their diagnosis.

MDA Scientists Win Federal Stimulus Grants for Neuromuscular Disease Research

At least 15 Muscular Dystrophy Association research grantees, past and present, have won funding from the National Institutes of Health through the American Recovery and Revitalization Act (ARRA) to accelerate the search for treatments and cures for neuromuscular diseases.