Dystrophin & Genetics
This protein is missing or severely deficient in Duchenne muscular dystrophy
Dystrophin
Common early sign where children struggle to stand up from the floor by "walking" their hands up their legs.
Gowers' maneuver
Besides physical challenges, what other difficulties to DMD patients experience?
Cognitive
A common assistive device used by many individuals with DMD as muscle weakness progresses
Wheelchair
The specific gene that is mutated and found on the X chromosome
DMD
What happens to the calfs of the DMD patients as they grow older
They turn inwards
The weakening of these muscles can lead to shallow breathing
Respiratory
This blood test, which measures an enzyme released from damaged muscles, is often the first indicator of a muscle problem
Creatine Kinase (CK) test
The inheritance pattern of DMD that makes it primarily affect boys
X-linked recessive
Muscle weakness in DMD usually starts in these muscles, which are closer to the center of the body
Proximal Muscles
This vital organ, a muscle itself, is commonly affected by DMD
Heart
This type of testing is the most definitive way to confirm a DMD diagnosis and identify the specific mutation
Genetic Testing
Females who carry the mutated DMD gene but typically do not show severe symptoms are called this
Carriers
The common range of age when initial symptoms of DMD typically become noticeable.
2-5 years old
Spine
What is gene therapy
A type of therapy that aims to correct the underlying genetic problem and allow for some dystrophin production.