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.

Population

neuromuscular care clinic

Brief Title

Clinical Trial Readiness for the Dystroglycanopathies

Official Title

Clinical Trial Readiness for the Dystroglycanopathies

Brief Summary

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

Detailed Description

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.