Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B
RI-CMTB
CMTRIB
RI-CMT type B
Number of Symptoms 17
OrphanetNr: 254334
OMIM Id: 613641
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive intermediate Charcot-Marie-Tooth disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001265) Hyporeflexia 208 / 7739
2
 (HPO:0003376) Steppage gait 41 / 7739
3
 (HPO:0009588) Vestibular Schwannoma 3 / 7739
4
 (HPO:0001288) Gait disturbance 318 / 7739
5
 (HPO:0002936) Distal sensory impairment 96 / 7739
6
 (HPO:0001284) Areflexia 198 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0001761) Pes cavus 225 / 7739
9
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
10
 (OMIM) Lower limb muscle weakness due to peripheral neuropathy 1 / 7739
11
 (OMIM) Lower limb muscle atrophy due to peripheral neuropathy 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Dysmorphic features 6 / 7739
14
 (OMIM) Nerve conduction velocities (NCV) vary from normal to decreased 1 / 7739
15
 (OMIM) Clumsy gait 3 / 7739
16
 (OMIM) Self-abusive behavior 2 / 7739
17
 (OMIM) EMG shows neuropathic changes 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM McLaughlin et al. (2010) reported a patient with intermediate Charcot-Marie-Tooth disease, developmental delay, self-abusive behavior, dysmorphic features, and vestibular Schwannoma. The patient was identified from a larger cohort of 355 patients with peripheral neuropathy. Electrophysiologic studies of this ...
Molecular genetics OMIM In a patient with recessive intermediate CMT with additional features, including developmental delay, McLaughlin et al. (2010) identified compound heterozygous mutations in the KARS gene (601421.0001 and 601421.0002). The patient was adopted, and parental studies were not possible. ...