Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:disease
|
| gptkbp:advocacy |
gptkb:fundraising_events
awareness campaigns policy initiatives |
| gptkbp:affects |
mostly females
|
| gptkbp:associated_with |
intellectual disability
motor dysfunction autism spectrum disorders |
| gptkbp:caused_by |
mutations in the MECP2 gene
|
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:community_health |
sleep disturbances
scoliosis cardiac issues digestive problems breathing abnormalities |
| gptkbp:community_support |
gptkb:educational_resources
online forums parent support groups |
| gptkbp:diagnosis |
genetic testing
clinical evaluation |
| gptkbp:first_described_by |
gptkb:Andreas_Rett
gptkb:1966 |
| https://www.w3.org/2000/01/rdf-schema#label |
Rett syndrome
|
| gptkbp:inherits_from |
rarely inherited
sporadic mutations |
| gptkbp:is_involved_in |
gptkb:International_Rett_Syndrome_Foundation
gptkb:Rett_Syndrome_Association gptkb:Rett_Syndrome_Research_Trust |
| gptkbp:lifespan |
varies widely
|
| gptkbp:notable_case |
gptkb:Megan_Mc_Gowan
Andreas Rett's original observations Dr. Huda Zoghbi's research contributions Megan Mc Gowan's story raised awareness |
| gptkbp:premiered_on |
typically between 6 to 18 months
|
| gptkbp:prevalence |
1 in 10,000 to 15,000 female births
|
| gptkbp:research |
neuroprotective strategies
biomarkers for diagnosis potential gene therapy |
| gptkbp:research_focus |
gptkb:MECP2_gene
therapeutic interventions pathophysiology |
| gptkbp:symptoms |
seizures
gait abnormalities speech impairment loss of purposeful hand skills repetitive hand movements |
| gptkbp:treatment |
occupational therapy
speech therapy medication for seizures |
| gptkbp:bfsParent |
gptkb:Rett_Syndrome_Research_Trust
|
| gptkbp:bfsLayer |
7
|