Statements (63)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:affects |
peripheral nerves
|
| gptkbp:associated_with |
environmental factors
fatigue awareness campaigns advocacy for research funding genetic predisposition lifestyle modifications foot deformities foot drop high arches numbness tingling sensations collaboration with healthcare providers tremors balance issues muscle cramps scoliosis educational resources for patients community support groups decreased reflexes pain in limbs multidisciplinary care approach gait abnormalities increased risk of falls need for assistive devices psychosocial impact challenges in employment difficulty in fine motor skills long-term management strategies wasting of hand muscles |
| gptkbp:caused_by |
mutations in the MFN2 gene
|
| gptkbp:clinical_trial |
available for treatment options
|
| gptkbp:diagnosis |
genetic testing
family history clinical evaluation nerve conduction studies |
| gptkbp:difficulty_levels |
varies among individuals
|
| gptkbp:disorder_type |
neuromuscular disorder
|
| gptkbp:financial_support |
available through organizations
|
| gptkbp:first_described_by |
in 2001
|
| gptkbp:genetic_studies |
recommended for families
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMT2 A
|
| gptkbp:impact |
can lead to disability
can affect daily activities can affect mobility |
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:premiered_on |
childhood or early adulthood
|
| gptkbp:prevalence |
rare disorder
|
| gptkbp:promoter |
gptkb:MFN2
|
| gptkbp:related_to |
gptkb:Charcot-Marie-Tooth_disease_type_2
|
| gptkbp:research |
ongoing studies
|
| gptkbp:research_focus |
gptkb:gene_therapy
understanding pathophysiology symptom management |
| gptkbp:symptoms |
muscle weakness
sensory loss muscle atrophy |
| gptkbp:treatment |
physical therapy
occupational therapy pain management |
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:bfsLayer |
6
|