Statements (61)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
proximal muscles
|
| gptkbp:associated_with |
gptkb:medical_research
gptkb:healthcare_access gptkb:guidelines rehabilitation services patient registries research funding awareness campaigns insurance coverage outcome measures family history long-term care social challenges muscle weakness advocacy organizations exercise intolerance genetic counseling respiratory issues biobanks assistive devices patient support groups research collaborations multidisciplinary care muscle wasting scoliosis quality of life issues clinical trials participation educational needs joint contractures gait abnormalities cardiac issues psychosocial impact myalgia falling episodes |
| gptkbp:breeding_range |
chromosome 15
|
| gptkbp:caused_by |
genetic mutations
|
| gptkbp:clinical_trial |
fatigue
muscle cramps progressive weakness onset in childhood |
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:first_described_by |
1990s
|
| gptkbp:gene_involved |
gptkb:calpain_3_gene
dystrophin gene sarcoglycan genes |
| https://www.w3.org/2000/01/rdf-schema#label |
LGMD1
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:related_to |
gptkb:LGMD2
|
| gptkbp:research_focus |
gptkb:gene_therapy
clinical trials muscle regeneration |
| gptkbp:symptoms |
difficulty walking
difficulty climbing stairs shoulder weakness |
| gptkbp:treatment |
physical therapy
supportive care occupational therapy |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|