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Level 130

LC 2.4 Duchenne Muscular Dystrophy (I)


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Duchenne Muscular Dystrophy
DMD
Dystrophin
Muscular dystrophies are usually caused by a deficiency of [______]
X
The Dystrophin gene is located on the [____] chromosome
Largest
The dystrophin gene is the [_____] gene known
65
[__]% of cases of Duchenne Muscular Dystrophy are caused by deletions in the Dystrophin gene
5 - 15
[__-__]% of cases of DMD are caused by gene duplications on the Dystrophin gene
Becker Muscular Dystrophy
BMD
Milder
Becker Muscular Dystrophy (BMD) is [___] than Duchenne Muscular Dystrophy
Reading frame
BMD is usually milder because the deletions/duplication do not interrupt the [_____] of the gene
Muscle biopsies
[______] can be used for diagnosis of DMD as they show whether dystrophin protein is present
Autosomes
All other chromosomes apart from the sex chromosomes are [______]
True
True or False: (X-linked inheritance) If a male with an affected X chromosome has a daughter with a non carrier female the daughter will always be a carrier
Carriers
X-linked Inheritance: An affected male's daughters will always be [_____]
Gene regulation
MicroRNA is involved with [___]
X chromosomes
Lyonisation is the inactivation of [___]
X linked
Anderson Fabry Disease is an [____] inherited disease
Renal disease
Fabry Disease usually leads to [____]
50%
Usually [___] of carriers of Fabry Disease develop a single organ manifestation
Genetic risk assessment
The first stage of genetic counselling is to conduct a [_____]
Multiple
Most families usually go through [____] stages of reaction/emotion when their child is diagnosed with DMD