NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB

General Information (adopted from Orphanet):

Synonyms, Signs: DHMN VB
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VB
DSMAVB
HMN VB
DHMN5B
SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VB
HMN5B
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614751
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001265) Hyporeflexia 208 / 7739
2
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
3
 (HPO:0001284) Areflexia 198 / 7739
4
 (HPO:0001761) Pes cavus 225 / 7739
5
 (HPO:0002460) Distal muscle weakness 122 / 7739
6
 (HPO:0003693) Distal amyotrophy 118 / 7739
7
 (OMIM) [DEL]Unstable gait 4 / 7739
8
 (OMIM) Amyotrophy of the intrinsic hand muscles 1 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Distal hereditary motor neuronopathy type VB is an autosomal dominant neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower ...
Clinical Description OMIM Beetz et al. (2012) reported an Austrian family in which 4 adult individuals spanning 3 generations developed a predominant peripheral motor neuronopathy in the first or second decades of life. Three presented with hand muscle weakness and atrophy ...
Molecular genetics OMIM By genomewide linkage analysis followed by exome sequencing of a family with dHMN type V, Beetz et al. (2012) identified a heterozygous splice site mutation in the REEP1 gene (609139.0006), resulting in skipping of exon 5 and a ...