University
of Utah Duchenne Muscular Dystrophy
Deletion and Mutation Screening.
Mutation Analysis of the Dystrophin
Gene for Dystrophin-Related Diseases
(Duchenne Muscular Dystrophy; Becker Muscular Dystrophy;
X-linked dilated cardiomyopathy)
Direct sequence analysis
of the entire dystrophin gene is now available at the Utah
Genome Depot Center at the University of Utah . We use a
new methodology to obtain the gene sequence of the entire
coding region of the dystrophin gene. This allows us to
detect small changes of the gene not readily detectable
by many types of diagnostic tests.
Deletions of one or more
exons of the dystrophin gene account for about 60% of cases.
Several clinical laboratories test for these types of deletions
using a multiplex PCR technique. We use a different method
called SCAIP (Single Condition Amplication/Internal Primer)
sequencing, in a two-stage process:
 |
PCR
(Polymerase Chain Reaction) of all exons (allowing us
to detect an additional 2% of deletion cases which are
missed by multiplex PCR). |
|
In
patients without deletions of one or more exons, we
directly sequence the entire coding region of the dystrophin
gene. This allows us to readily detect:
| -
Premature stop codon mutations |
| -
Small (<1 exon in size) deletions,insertions,
and duplications |
| -
Missense mutations |
|
This testing does not detect
duplications which are one exon or larger in size (it does
detect duplications smaller than one exon). Duplication
testing is available as a separate test at several research
and commercial laboratories.
How
to obtain dystrophin testing
There are two different ways to have your DNA (or
your child's DNA) tested for dystrophin mutations.
1. Clinical
Testing is available at the Utah Genome Center.
2. Testing may be
available to you at no cost if you participate in a research
project funded by the National Institutes of Health, called
"Translational Research in the Dystrophinopathies".
In order to take part in this project, you will need to
visit a clinic at one of the participating research centers.
To learn more about this project, visit the Utah
Dystrophinopathy Project Home Page.
Introducing Parent Project
Muscular Dystrophy's Duchenne Muscular Dystrophy DVD
Giving a Face to DMD
Understanding the disease and Guidelines for CARE and Management.
State of the art, comprehensive care for your son. With
the diagnosis of Duchenne muscular dystrophy, families are
faced with so many decisions and often the information variable
and confusing. Parent Project Muscular Dystrophy has worked
hard and sought the advice many DMD experts to develop a
two-set DVD to assist families, health care experts and
physicians provide the best treatment and care available
for young men with Duchenne muscular dystrophy.
To help families better understand the diagnosis, the first
DVD provides an overview of Duchenne muscular dystrophy,
its cause and how a diagnosis is reached. The second DVD
offers more information on issues related to care and management
of Duchenne.
Disc ONE
Understanding Duchenne
Introduction
What is DMD?
What causes the condition?
Inheritance
Genetics
Diagnosis
How Duchenne Affects the Body
Musculoskeletal
Musculoskeletal
Heart Function
Cognition and LearningDisc TWO
Current Options for Care and Management
Coordination of Care
Corticosteroid Therapy
Musculoskeletal Management
Physical Therapy :
-Active Exercise
-Hydrotherapy
-Stretches
-Posture in Wheelchairs
Orthotics
Scoliosis and Surgery
Respiratory and Cardiac Care
Respiratory Management
Monitoring and Care of the Heart
Early Learning Strategies
Although we know, for some of you, this diagnosis is very
new, while others have an intimate knowledge of the disease,
we are here to help and continuously investigate ways to
improve care for your son. We believe this DVD to be an
excellent source of information to help you help your son.
The DVD is now available for $30.00. To order your DVD please
call (201)944-9985 or email Kimberly@parentprojectmd.org
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