Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:affects |
peripheral nerves
|
| gptkbp:can_lead_to |
difficulty walking
foot deformities |
| gptkbp:cause |
muscle weakness
sensory loss |
| gptkbp:caused_by |
mutations in the MFN2 gene
mutations in the GARS gene mutations in the NEFL gene mutations in the HSPB1 gene mutations in the KIF1 B gene |
| gptkbp:diagnosis |
genetic testing
nerve conduction studies |
| gptkbp:first_described_by |
the 19th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMT2
|
| gptkbp:inherits_from |
autosomal dominant
autosomal recessive |
| gptkbp:is_associated_with |
gptkb:depression
anxiety fatigue chronic pain mutations in genes |
| gptkbp:is_characterized_by |
peripheral neuropathy
distal muscle weakness atrophy of muscles decreased deep tendon reflexes high foot arches |
| gptkbp:is_managed_by |
physical therapy
occupational therapy pain management |
| gptkbp:is_often_seen_in |
various populations
|
| gptkbp:is_part_of |
genetic disorders
neuromuscular disorders disorders of the peripheral nervous system |
| gptkbp:is_related_to |
CMT1
CMT3 |
| gptkbp:is_studied_in |
gptkb:Genetics
neurology rehabilitation medicine |
| gptkbp:scientific_classification |
gptkb:CMT2_A
CMT2 B CMT2 C CMT2 D CMT2 E |
| gptkbp:treatment |
gptkb:surgery
medications assistive devices |
| gptkbp:type_of |
hereditary neuropathy
|
| gptkbp:bfsParent |
gptkb:CMT1_B
|
| gptkbp:bfsLayer |
7
|