Statements (63)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
gptkb:children
adults |
| gptkbp:associated_with |
gptkb:Assistive_technology
gptkb:guidelines gptkb:depression gptkb:medical_devices anxiety fatigue palliative care rehabilitation services ethical considerations healthcare providers patient registries public awareness campaigns research funding advocacy groups community resources pain long-term care seizures social challenges vision problems research organizations hearing loss support networks genetic counseling respiratory issues cognitive impairment muscle cramps muscle wasting endocrine disorders gastrointestinal issues quality of life issues educational needs family support needs skin abnormalities brain abnormalities family planning issues |
| gptkbp:caused_by |
deficiency of merosin
|
| gptkbp:characterized_by |
muscle weakness
|
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:diagnosis |
gptkb:MRI
genetic testing muscle biopsy |
| gptkbp:first_described_by |
1990s
|
| https://www.w3.org/2000/01/rdf-schema#label |
merosin-deficient CMD
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:related_to |
gptkb:Laminin-2
muscle dystrophies |
| gptkbp:research_focus |
gptkb:gene_therapy
stem cell therapy protein replacement therapy |
| gptkbp:symptoms |
hypotonia
scoliosis joint contractures cardiac issues |
| gptkbp:treatment |
physical therapy
occupational therapy speech therapy |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|