gptkbp:instance_of
|
gptkb:muscular_dystrophy
|
gptkbp:advocacy
|
gptkb:Muscular_Dystrophy_Association
gptkb:Duchenne_Parent_Project
important
Parent Project Muscular Dystrophy
|
gptkbp:affects
|
skeletal muscles
|
gptkbp:associated_with
|
gptkb:Cardiology
scoliosis
joint contractures
|
gptkbp:breeding_range
|
Xp21.1
|
gptkbp:caused_by
|
mutations in the DMD gene
|
gptkbp:clinical_trial
|
ongoing
|
gptkbp:community_impact
|
gptkb:significant
|
gptkbp:community_support
|
crucial
|
gptkbp:condition
|
gptkb:Duchenne_muscular_dystrophy
|
gptkbp:diagnosis
|
genetic testing
muscle biopsy
electromyography
|
gptkbp:economic_impact
|
may affect job choices
|
gptkbp:educational_value
|
may require accommodations
|
gptkbp:financial_support
|
important
|
gptkbp:first_described_by
|
Becker in 1955
|
gptkbp:funding
|
available
|
gptkbp:genetic_studies
|
recommended
|
https://www.w3.org/2000/01/rdf-schema#label
|
Becker muscular dystrophy
|
gptkbp:impact_on_social_life
|
can be challenging
|
gptkbp:inherits_from
|
X-linked recessive
|
gptkbp:is_involved_in
|
available
|
gptkbp:is_tested_for
|
under investigation
|
gptkbp:lifespan
|
normal or near normal
|
gptkbp:notable_case
|
gptkb:musicians
public figures
famous athletes
|
gptkbp:player_development
|
slower than Duchenne muscular dystrophy
|
gptkbp:premiered_on
|
childhood or adolescence
|
gptkbp:prevalence
|
1 in 18,000 to 30,000 males
|
gptkbp:protein_deficiency
|
dystrophin
|
gptkbp:provides_guidance_on
|
established
|
gptkbp:public_awareness
|
September
|
gptkbp:registration
|
exists
|
gptkbp:research_focus
|
gptkb:gene_therapy
stem cell therapy
exon skipping
|
gptkbp:symptoms
|
muscle weakness
muscle wasting
|
gptkbp:treatment
|
ongoing
medications
physical therapy
assistive devices
|
gptkbp:bfsParent
|
gptkb:muscular_dystrophy
|
gptkbp:bfsLayer
|
5
|