Families affected by either of two forms of congenital muscular dystrophy (CMD), known as Ullrich CMD and Bethlem myopathy, are invited to help with an MDA-supported data collection project at the University of Utah in Salt Lake City. The project's investigators are seeking to correlate genetic and clinical (symptom-related) information to improve understanding of these diseases and begin to develop treatments.
About Ullrich CMD and Bethlem myopathy
Both Ullrich CMD and Bethlem myopathy cause weakness, joint contractures or overly flexible joints, and skin changes, and both result from deficiencies or abnormalities of a protein called collagen 6.
Until recently, it was believed that Ullrich CMD and Bethlem myopathy were distinct disorders, but it's now known that they both arise from mutations in any of the three collagen 6 genes: COL6A1 on chromosome 21; COL6A2 on chromosome 21; or COL6A3 on chromosome 2.
Bethlem myopathy is less severe than Ullrich CMD. Both are considered congenital muscular dystrophies in MDA's classification system.
About the new project
Pediatric neurologist Russell Butterfield at the University of Utah School of Medicine in Salt Lake City has MDA support to oversee the establishment of a database containing detailed genetic and clinical information from people with collagen 6 abnormalities and Ullrich or Bethlem types of CMD.
The study will collect medical information from patients and from their medical records. There is no cost to families and no need to visit the researchers in Utah.
The investigators hope to:
For more, see the Pediatric Motor Disorders Research Program.
Interested families should contact Russell Butterfield, M.D., Ph.D., at firstname.lastname@example.org or call (801) 587-9887.