Charcot-Marie-Tooth disease type 2B1

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B1
AR-CMT2B1
CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B1
CMT2B1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, B1
Autosomal recessive axonal CMT4C1
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Number of Symptoms 28
OrphanetNr: 98856
OMIM Id: 605588
ICD-10: G60.0
UMLs: C1854154
MeSH: C537990
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[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:0003376) Steppage gait 41 / 7739
2
 (HPO:0001284) Areflexia 198 / 7739
3
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
4
 (HPO:0001265) Hyporeflexia 208 / 7739
5
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
6
 (HPO:0001288) Gait disturbance 318 / 7739
7
 (HPO:0002936) Distal sensory impairment 96 / 7739
8
 (HPO:0003383) Onion bulb formation 30 / 7739
9
 (HPO:0003378) Axonal degeneration/regeneration 12 / 7739
10
 (HPO:0003384) Peripheral axonal atrophy 5 / 7739
11
 (HPO:0001760) Abnormality of the foot 96 / 7739
12
 (HPO:0002751) Kyphoscoliosis 131 / 7739
13
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
14
 (HPO:0001761) Pes cavus 225 / 7739
15
 (HPO:0002460) Distal muscle weakness 122 / 7739
16
 (HPO:0003693) Distal amyotrophy 118 / 7739
17
 (HPO:0003484) Upper limb muscle weakness 19 / 7739
18
 (OMIM) Proximal muscle involvement may occur 3 / 7739
19
 (OMIM) Axonal degeneration/regeneration on nerve biopsy 10 / 7739
20
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
21
 (OMIM) Kyphoscoliosis may be present 3 / 7739
22
 (OMIM) Decreased number of myelinated fibers may be found 5 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (OMIM) Axonal atrophy on nerve biopsy 5 / 7739
25
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
26
 (OMIM) Upper limb involvement may occur later 10 / 7739
27
 (OMIM) Small 'onion bulbs' may be present 4 / 7739
28
 (HPO:0003674) Onset 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Charcot-Marie-Tooth 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 median ...
Clinical Description OMIM Bouhouche et al. (1999) studied a large consanguineous Moroccan autosomal recessive CMT2 family with 9 affected sibs. Onset of CMT was in the second decade in all affected individuals, who had weakness and wasting of the distal lower ...
Molecular genetics OMIM Bouhouche et al. (1999) excluded the myelin protein zero gene (MPZ; 159440) as a candidate for mutation in this disorder by physical mapping and direct sequencing.

In 3 consanguineous Algerian families with autosomal recessive CMT2 linked ...