Autosomal dominant Charcot-Marie-Tooth disease type 2L

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L
CMT2L
Number of Symptoms 20
OrphanetNr: 99945
OMIM Id: 608673
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

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:0003477) Peripheral axonal neuropathy 62 / 7739
2
(HPO:0001265) Hyporeflexia 208 / 7739
3
(HPO:0003387) Decreased number of large peripheral myelinated nerve fibers 11 / 7739
4
(HPO:0007078) Decreased amplitude of sensory action potentials 5 / 7739
5
(HPO:0001284) Areflexia 198 / 7739
6
(HPO:0002936) Distal sensory impairment 96 / 7739
7
(HPO:0002650) Scoliosis 705 / 7739
8
(HPO:0001761) Pes cavus 225 / 7739
9
(HPO:0002460) Distal muscle weakness 122 / 7739
10
(HPO:0003693) Distal amyotrophy 118 / 7739
11
(HPO:0003444) EMG: chronic denervation signs 5 / 7739
12
(OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
13
(OMIM) Thin myelinated axons 1 / 7739
14
(OMIM) Decreased or absent sensory nerve action potentials 1 / 7739
15
(OMIM) Nerve biopsy shows axonal neuropathy 1 / 7739
16
(OMIM) Progresses to involve upper distal limb muscles 1 / 7739
17
(OMIM) EMG shows denervation and fibrillation potentials 1 / 7739
18
(OMIM) Proximal muscle involvement rarely occurs 1 / 7739
19
(OMIM) Normal motor nerve conduction velocities 6 / 7739
20
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In affected members of the CMT2L family described by Tang et al. (2004), Tang et al. (2005) sequenced all known exons and intron-exon boundaries of 26 known candidate genes in the 12q24 region and identified a lys141-to-asn substitution ...