Statements (66)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
gptkb:children
|
| gptkbp:associated_with |
gptkb:dystroglycan
gptkb:guidelines gptkb:healthcare_professionals community involvement emotional support family support fatigue quality of life rehabilitation services patient registries research funding adaptive equipment advocacy groups awareness campaigns community resources fundraising efforts inflammation pain social challenges supportive care respiratory problems genetic counseling peer support holistic care family counseling multidisciplinary approach assistive devices patient support groups life expectancy mobility aids cognitive impairment home modifications integrative approaches reduced mobility eye problems transition planning educational needs cardiac issues muscle degeneration brain abnormalities dystrophic changes muscle fibrosis school accommodations |
| gptkbp:caused_by |
genetic mutations
|
| gptkbp:diagnosis |
variable
genetic testing infancy |
| gptkbp:first_described_by |
gptkb:literature
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMD with dystroglycanopathy
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:related_to |
muscle dystrophies
|
| gptkbp:research_focus |
gptkb:gene_therapy
clinical trials protein replacement therapy |
| gptkbp:symptoms |
muscle weakness
hypotonia joint contractures delayed motor milestones |
| gptkbp:treatment |
gptkb:surgery
physical therapy occupational therapy |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|