Hereditary monor and sensory neuropathy

Description

charcot-marie-tooth disease, axonal, type 2t: ['Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).']

Data source
FinnGen phenocode G6_HEREMOSEN
Hospital Discharge registry ICD-10: G600, ICD-8: 33000
Cause of Death registry ICD-10: G600, ICD-8: 33000
Level in the ICD-hierarchy 3
First defined in version DF2
Ontology
DOID 0110160
GWAS catalog 0009162

Key figures

Sex All Female Male
Number of individuals 56 29 27
Unadjusted prevalence (%) 0.04 0.04 0.05
Mean age at first event (years) 47.33 43.77 51.16
Median number of events / individual 4 8 2

Clinical metrics

Sex All Female Male
Recurrence within 6 months (%) 60.71 68.97 51.85
Case fatality at 5-years (%) 1.79 0.0 3.7

Associations