Statements (56)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:advocacy |
available
|
| gptkbp:associated_with |
dystrophin gene
|
| gptkbp:breeding_range |
chromosome 6
|
| gptkbp:clinical_trial |
fatigue
ongoing difficulty climbing stairs gait abnormalities difficulty lifting objects proximal muscle weakness |
| gptkbp:clinical_use |
rehabilitation services
nutritional support psychosocial support multidisciplinary approach |
| gptkbp:condition |
gptkb:LGMD1_A
gptkb:LGMD2_A |
| gptkbp:diagnosis |
genetic testing
family history clinical evaluation muscle biopsy MRI findings |
| gptkbp:difficulty_levels |
varies among individuals
|
| gptkbp:first_described_by |
1990s
|
| gptkbp:gene_mutation |
dystrophin gene mutation
|
| gptkbp:genetic_studies |
recommended
recommended for family members |
| https://www.w3.org/2000/01/rdf-schema#label |
LGMD1 B
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:is_involved_in |
available
|
| gptkbp:lifespan |
normal with management
|
| gptkbp:onset_age |
childhood to early adulthood
|
| gptkbp:pathway |
inflammation
fibrosis fatty infiltration muscle fiber degeneration |
| gptkbp:prevalence |
rare disorder
|
| gptkbp:research_focus |
gptkb:gene_therapy
biomarkers muscle regeneration |
| gptkbp:research_institutes |
genetic mutations
therapeutic strategies neuromuscular disorders muscle biology |
| gptkbp:symptoms |
difficulty walking
muscle weakness respiratory issues muscle wasting scoliosis joint contractures cardiac issues shoulder and hip muscle weakness |
| gptkbp:treatment |
physical therapy
supportive care occupational therapy |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|