NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB

General Information (adopted from Orphanet):

Synonyms, Signs: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE
NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB
DHMN7B
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
HMN VIIB
HMN7B
Number of Symptoms 17
OrphanetNr:
OMIM Id: 607641
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0002366) Abnormal lower motor neuron morphology 12 / 7739
3
 (HPO:0001605) Vocal cord paralysis 13 / 7739
4
 (HPO:0009130) Hand muscle atrophy 11 / 7739
5
 (HPO:0001252) Muscular hypotonia 990 / 7739
6
 (HPO:0002460) Distal muscle weakness 122 / 7739
7
 (HPO:0001324) Muscle weakness 859 / 7739
8
 (HPO:0007340) Lower limb muscle weakness 61 / 7739
9
 (HPO:0003693) Distal amyotrophy 118 / 7739
10
 (OMIM) Hand muscle weakness 2 / 7739
11
 (OMIM) Lower limb muscle atrophy 4 / 7739
12
 (HPO:0030237) Hand muscle weakness 4 / 7739
13
 (HPO:0003677) Slow progression 134 / 7739
14
 (OMIM) Breathing difficulty due to vocal cord paralysis 1 / 7739
15
 (OMIM) No sensory symptoms 1 / 7739
16
 (HPO:0003581) Adult onset 117 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Puls et al. (2003) identified a family with a slowly progressive, autosomal dominant form of motor neuron disease without sensory symptoms. Onset of the disorder was in early adulthood with breathing difficulty due to vocal fold paralysis, progressive ...
Molecular genetics OMIM Puls et al. (2003) found a gly59-to-ser mutation in the DCTN1 gene (G59S; 601143.0001) in all affected individuals of the family they studied with lower motor neuron disease.

Among 250 patients with a putative diagnosis of ...