Charcot-Marie-Tooth disease type 1
GPTKB entity
Properties (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
High School
|
| gptkbp:ageLimit |
childhood to early adulthood
|
| gptkbp:associatedWith |
anxiety
depression patient education support groups difficulty walking social challenges employment challenges advocacy organizations educational challenges foot deformities high arches accessibility issues assistive devices tremors scoliosis hand weakness |
| gptkbp:causedBy |
mutations_in_the_PMP-22_gene
|
| gptkbp:characterDevelopment |
slowly progressive
|
| gptkbp:demographics |
1 in 2,500 people
|
| gptkbp:diseaseResistance |
generally good
variable genetic testing life expectancy normal |
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease type 1
|
| gptkbp:impact |
physical therapy
occupational therapy pain management peripheral nerves |
| gptkbp:introduced |
gptkb:Jean-Martin_Charcot
gptkb:Howard_Henry_Tooth Pierre_Marie |
| gptkbp:nobleFamily |
autosomal dominant
|
| gptkbp:relatedPatent |
gptkb:Charcot-Marie-Tooth_disease_type_2
neuropathy Hereditary neuropathy with liability to pressure palsies distal_hereditary_motor_neuropathy |
| gptkbp:research |
clinical trials
ongoing studies gene therapy trials CMT1A testing CMT1B testing pathophysiology studies PMP-22_gene_analysis biomarker_identification |
| gptkbp:symptoms |
muscle weakness
sensory loss muscle atrophy |