Clinical Trial Readiness for the Dystroglycanopathies

Inclusion Criteria5

• 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.