Charcot-Marie-Tooth disease type 2B2

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B2
CMT2B2
CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE B2
ARCMT2B
AR-CMT2B2
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
Autosomal recessive axonal CMT4C3
Number of Symptoms 10
OrphanetNr: 101101
OMIM Id: 605589
ICD-10: G60.0
UMLs: C1854150
MeSH: C537991
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
2
 (HPO:0001265) Hyporeflexia 208 / 7739
3
 (HPO:0002936) Distal sensory impairment 96 / 7739
4
 (HPO:0001284) Areflexia 198 / 7739
5
 (HPO:0003693) Distal amyotrophy 118 / 7739
6
 (HPO:0002460) Distal muscle weakness 122 / 7739
7
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
8
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
9
 (HPO:0003581) Adult onset 117 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a motor ...
Clinical Description OMIM Leal et al. (2001) reported a large consanguineous Costa Rican family with autosomal recessive axonal CMT. Mean age at onset was 33.8 years (range, 28 to 42 years). Symptoms included symmetrical weakness and atrophy in the ankles, hyporeflexia, ...
Molecular genetics OMIM In affected members of a large, highly consanguineous Costa Rican family with Charcot-Marie-Tooth disease type 2B2, Leal et al. (2009) identified a homozygous mutation in the MED25 gene (A335V; 610197.0001). The family was from a single town in ...