Autosomal dominant Charcot-Marie-Tooth disease type 2N

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N
CMT2N
Number of Symptoms 20
OrphanetNr: 228174
OMIM Id: 613287
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant Charcot-Marie-Tooth disease type 2
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001288) Gait disturbance 318 / 7739
2
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
3
 (HPO:0002355) Difficulty walking 61 / 7739
4
 (HPO:0002936) Distal sensory impairment 96 / 7739
5
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
6
 (HPO:0001284) Areflexia 198 / 7739
7
 (HPO:0001761) Pes cavus 225 / 7739
8
 (HPO:0001760) Abnormality of the foot 96 / 7739
9
 (HPO:0001765) Hammertoe 63 / 7739
10
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
11
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
12
 (HPO:0002460) Distal muscle weakness 122 / 7739
13
 (HPO:0003828) Variable expressivity 130 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (OMIM) Lower limbs most affected 1 / 7739
16
 (OMIM) Deafness, sensorineural, variable 2 / 7739
17
 (OMIM) Hypo- or areflexia 4 / 7739
18
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
19
 (OMIM) Ankle sprains 1 / 7739
20
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Latour et al. (2010) reported a large 5-generation French family in which at least 17 individuals had an axonal form of Charcot-Marie-Tooth disease with a mean age at onset of 28 years (range, 6-54). One patient was described ...
Molecular genetics OMIM In affected members of a large French family with axonal CMT, Latour et al. (2010) identified a heterozygous mutation in the AARS gene (R329H; 601065.0001). Affected members of an unrelated affected French family were found to carry the ...