The purpose of the study is to describe the early signs and symptoms of the dystroglycanopathies, and to gather information that will be required for future clinical trials.

Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. The disorders are caused by mutations, or changes, in genes. Genes are tiny pieces of inherited material (DNA) that direct the body to make certain kinds of proteins.

In this study, researchers will examine the clinical presentation of muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan. Patients with dystroglycanopathies could have mutations in any one of the more than 20 currently identified genes, or evidence of dystroglycanopathy in biopsied muscle tissue . Symptoms range from congenital muscular dystrophy that may involve the brain and eye, through an adult-onset limb girdle muscular dystrophy.

The study involves a clinical evaluation at the University of Iowa. The evaluation includes muscle strength and motor ability testing, lung function testing, quality of life and activity assessment, and a review of past medical history. Portions of this evaluation will be repeated on a yearly basis. Financial assistance is available for travel to Iowa City. Support is also available for genetic testing for people with a dystroglycanopathy diagnosis based on muscle or skin biopsy analysis.

Knowledge gained from this study will improve healthcare recommendations for people with dystroglycanopathies, and provide a baseline for further study, including potential treatment options.

Inclusion Criteria:

• Elevated CK (creatine kinase)
• Evidence of a dystroglycanopathy as determined by review of muscle pathology OR documented mutation in one of the known genes OR abnormal alpha-dystroglycan glycosylation in cultured fibroblasts
• Dystroglycanopathies are predicted to affect all racial and ethnic backgrounds, and all patients with dystroglycanopathies will be eligible for participation.
• Participants may be of any age, including children, and males and females will be recruited equally.
• Patients will have varying degrees of muscular weakness, but otherwise should be in relatively good health.

Exclusion Criteria:

• There are no exclusion criteria.

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