Properties (53)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
High School
|
| gptkbp:advertising |
increased through advocacy groups
increased through patient support networks increased through research funding |
| gptkbp:associatedWith |
difficulty walking
foot deformities balance issues |
| gptkbp:causedBy |
mutations in the MFN2 gene
|
| gptkbp:clinicalTrials |
ongoing for new treatments
progressive nature asymmetrical symptoms focused on gene therapy approaches focused on symptom management onset in childhood or early adulthood |
| gptkbp:demographics |
rare
|
| gptkbp:diseaseResistance |
genetic testing
|
| gptkbp:established |
scientists studying hereditary neuropathies
|
| gptkbp:geneticDiversity |
chromosome 8
recommended for families |
| gptkbp:hasCapacity |
available through local support groups
available through online forums available through organizations |
| gptkbp:hasService |
family history
clinical evaluation nerve conduction studies |
| https://www.w3.org/2000/01/rdf-schema#label |
CMT2A
|
| gptkbp:impact |
physical therapy
occupational therapy varies by severity pain management peripheral nerves can affect daily activities can affect employment can affect social interactions |
| gptkbp:introduced |
in the 1990s
|
| gptkbp:is_used_in |
variable among individuals
requires ongoing management may lead to disability |
| gptkbp:manager |
supportive care
assistive devices surgery for foot deformities |
| gptkbp:nobleFamily |
autosomal dominant
|
| gptkbp:relatedPatent |
CMT1A
CMT2B CMTX |
| gptkbp:relatedTo |
gptkb:Charcot-Marie-Tooth_disease_type_2
|
| gptkbp:research |
MFN2 gene analysis
|
| gptkbp:researchFocus |
clinical trials
gene therapy molecular mechanisms |
| gptkbp:symptoms |
muscle weakness
sensory loss muscle atrophy |