Statements (117)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:disease
gptkb:Oncology |
| gptkbp:affects |
quality of life
peripheral nerves bone remodeling |
| gptkbp:associated_with |
gptkb:Paget's_disease_of_the_breast
gptkb:Paget's_disease_of_the_vulva viral infections vitamin D deficiency |
| gptkbp:can_cause |
joint pain
spinal deformities leg deformities pelvic deformities skull deformities |
| gptkbp:can_lead_to |
gptkb:Oncology
disability neurological issues loss of independence vascular issues |
| gptkbp:cause |
muscle weakness
sensory loss enlarged bones |
| gptkbp:complication |
gptkb:juvenile_idiopathic_arthritis
heart failure hearing loss osteosarcoma |
| gptkbp:condition |
osteosarcoma
|
| gptkbp:diagnosis |
gptkb:medical_imaging
blood tests genetic testing childhood biopsy adulthood nerve conduction studies approximately 1% of adults over 50 bone scan |
| gptkbp:first_described_by |
gptkb:Jean-Martin_Charcot
gptkb:Howard_Henry_Tooth Pierre Marie Sir James Paget |
| gptkbp:genetic_studies |
family history
|
| gptkbp:has_a_focus_on |
clinical trials
|
| gptkbp:has_type |
gptkb:CMT1_B
gptkb:CMT2_A CMT1 A CMTX1 |
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease
|
| gptkbp:inherits_from |
genetic mutations
|
| gptkbp:is_a_chronic_condition |
that can last for years.
|
| gptkbp:is_a_subject_of |
patient advocacy
|
| gptkbp:is_affected_by |
environmental factors
|
| gptkbp:is_associated_with |
fatigue
chronic pain balance issues high levels of alkaline phosphatase increased blood flow to bones CMT1 A gene mutation CMT2 A gene mutation CMTX1 gene mutation |
| gptkbp:is_characterized_by |
axonal degeneration
demyelination thickened bones abnormal bone structure excessive bone remodeling painful bones |
| gptkbp:is_common_in |
females
males |
| gptkbp:is_linked_to |
gptkb:chromosome_1
chromosome 17 chromosome X |
| gptkbp:is_managed_by |
gptkb:surgery
physical therapy regular monitoring lifestyle changes assistive devices |
| gptkbp:is_often_asymptomatic |
in early stages
|
| gptkbp:is_often_seen_in |
various populations
men than women |
| gptkbp:is_recognized_by |
difficulty with fine motor skills
progressive nature muscle weakness in hands and feet |
| gptkbp:is_studied_in |
neurology research
|
| gptkbp:issues |
genetic counseling
|
| gptkbp:known_as |
hereditary motor and sensory neuropathy
|
| gptkbp:prevalence |
1 in 2,500 people
more common in older adults less common in Africa less common in Asia more common in Europe |
| gptkbp:research |
gptkb:gene_therapy
new medications |
| gptkbp:risk_factor |
male gender
age over 50 |
| gptkbp:scientific_classification |
a hereditary neuropathy
monostotic or polyostotic |
| gptkbp:symptoms |
difficulty walking
foot drop high arches muscle atrophy numbness bone pain tingling sensations fractures deformities |
| gptkbp:treatment |
gptkb:surgery
improve quality of life physical therapy prevent complications occupational therapy pain management pain relievers bisphosphonates reduce pain |
| gptkbp:type_of |
hereditary neuropathy
|
| gptkbp:bfsParent |
gptkb:Jean-Baptiste_Charcot
gptkb:Jean-Martin_Charcot |
| gptkbp:bfsLayer |
5
|