Statements (58)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:affects |
peripheral nerves
|
| gptkbp:associated_with |
demyelination
axon degeneration |
| gptkbp:caused_by |
mutations in the MPZ gene
|
| gptkbp:clinical_trial |
high arches
muscle atrophy tremors ongoing for new treatments gait abnormalities claw toes |
| gptkbp:clinical_use |
rehabilitation services
psychosocial support multidisciplinary approach assistive devices surgical interventions |
| gptkbp:community_support |
support groups
online forums patient organizations |
| gptkbp:condition |
joint pain
foot drop carpal tunnel syndrome scoliosis ankle instability |
| gptkbp:diagnosis |
generally good
genetic testing family history clinical examination nerve conduction studies |
| gptkbp:difficulty_levels |
varies among individuals
|
| gptkbp:first_described_by |
in 1993
|
| gptkbp:genetic_studies |
recommended
important for families MPZ gene analysis mutation identification |
| https://www.w3.org/2000/01/rdf-schema#label |
CMT1 B
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:lifespan |
gptkb:normal
|
| gptkbp:premiered_on |
childhood to early adulthood
|
| gptkbp:prevalence |
1 in 2500 people
|
| gptkbp:public_awareness |
gptkb:educational_resources
increased through campaigns medical professional training |
| gptkbp:related_to |
gptkb:CMT2
CMT1 A |
| gptkbp:research |
ongoing
|
| gptkbp:research_focus |
gptkb:gene_therapy
biomarkers clinical trials neuroprotective strategies |
| gptkbp:symptoms |
muscle weakness
sensory loss foot deformities |
| gptkbp:treatment |
physical therapy
occupational therapy pain management |
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:bfsLayer |
6
|