limb-girdle muscular dystrophy type 2 A
GPTKB entity
Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DJ
|
| gptkbp:affects |
both genders
|
| gptkbp:associated_with |
fatigue
pain social challenges emotional impact muscle cramps joint contractures progressive muscle degeneration |
| gptkbp:caused_by |
mutations in the CAP N3 gene
|
| gptkbp:clinical_trial |
gptkb:hospital
respiratory issues scoliosis gait abnormalities proximal muscle weakness |
| gptkbp:current_use |
other types of muscular dystrophy
|
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:first_described_by |
gptkb:1995
|
| gptkbp:genetic_diversity |
prenatal testing
carrier testing CAP N3 gene analysis |
| gptkbp:habitat |
chromosome 15q15.1
|
| https://www.w3.org/2000/01/rdf-schema#label |
limb-girdle muscular dystrophy type 2 A
|
| gptkbp:is_popular_in |
rare disorder
|
| gptkbp:premiered_on |
childhood to early adulthood
|
| gptkbp:research_areas |
genetic disorders
neuromuscular diseases muscle biology |
| gptkbp:research_focus |
gptkb:physicist
clinical trials muscle regeneration |
| gptkbp:social_responsibility |
gptkb:MRI
genetic testing muscle biopsy electromyography depends on severity variable progression life expectancy may be normal |
| gptkbp:symptoms |
difficulty walking
muscle weakness muscle wasting shoulder and hip muscle weakness |
| gptkbp:treatment |
physical therapy
supportive care occupational therapy assistive devices respiratory support cardiac monitoring surgery for contractures |