Statements (70)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:associated_with |
gptkb:Cardiology
respiratory issues |
| gptkbp:caused_by |
dystrophin gene mutation
|
| gptkbp:character_traits |
proximal muscle weakness
|
| gptkbp:chromosome_location |
gptkb:Xp21.2
|
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:diagnosis |
genetic testing
family history clinical evaluation muscle biopsy MRI findings |
| gptkbp:diseases |
gptkb:LGMD2_B
gptkb:LGMD2_C gptkb:LGMD2_D gptkb:LGMD2_E |
| gptkbp:financial_support |
muscular dystrophy associations
|
| gptkbp:first_described_by |
1990s
|
| gptkbp:genetic_studies |
recommended
|
| https://www.w3.org/2000/01/rdf-schema#label |
LGMD2 A
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:lifespan |
normal with care
|
| gptkbp:player_development |
variable
|
| gptkbp:premiered_on |
childhood to early adulthood
|
| gptkbp:prevalence |
rare disorder
|
| gptkbp:promoter |
DMD
|
| gptkbp:research_focus |
gptkb:gene_therapy
biomarkers muscle regeneration |
| gptkbp:symptoms |
gptkb:depression
anxiety fatigue sleep disturbances social isolation weight loss difficulty walking pain vision problems cardiovascular issues muscle weakness muscle atrophy muscle stiffness difficulty climbing stairs neurological issues muscle hypertrophy muscle cramps sexual dysfunction muscle wasting scoliosis urinary issues gastrointestinal issues skin issues muscle spasms joint contractures hearing problems gait abnormalities pulmonary issues speech difficulties myalgia endocrine issues swallowing difficulties difficulty lifting objects difficulty running cognitive issues metabolic issues tendon reflex loss |
| gptkbp:treatment |
physical therapy
occupational therapy |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|