NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC

General Information (adopted from Orphanet):

Synonyms, Signs: DHMN2C
HMN IIC
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
HMN2C
Number of Symptoms 17
OrphanetNr:
OMIM Id: 613376
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:0002355) Difficulty walking 61 / 7739
2
(HPO:0009830) Peripheral neuropathy 206 / 7739
3
(HPO:0002600) Hyporeflexia of lower limbs 13 / 7739
4
(HPO:0003376) Steppage gait 41 / 7739
5
(HPO:0002522) Areflexia of lower limbs 16 / 7739
6
(HPO:0009053) Distal lower limb muscle weakness 13 / 7739
7
(HPO:0002460) Distal muscle weakness 122 / 7739
8
(HPO:0008959) Distal upper limb muscle weakness 3 / 7739
9
(HPO:0003445) EMG: neuropathic changes 21 / 7739
10
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
11
(OMIM) Atrophy of the intrinsic foot and hand muscles 1 / 7739
12
(OMIM) EMG shows neurogenic abnormalities 8 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(HPO:0003677) Slow progression 134 / 7739
15
(OMIM) Neurophysiologic studies show a predominantly motor neuropathy 2 / 7739
16
(OMIM) No or mild distal sensory deficit 1 / 7739
17
(OMIM) Distal lower and upper limb muscle atrophy 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kolb et al. (2010) reported 2 sisters with adult-onset distal hereditary motor neuropathy. The proband was a 58-year-old woman who presented with a history of slowly progressive distal arm and leg weakness. Her symptoms began in her early ...
Molecular genetics OMIM By candidate gene analysis of 2 sisters with adult-onset distal hereditary motor neuropathy, Kolb et al. (2010) identified a heterozygous mutation in the HSPB3 gene (R7S; 604624.0001). The authors noted that mutations in the heat-shock proteins HSPB1 (602195) ...