NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB

General Information (adopted from Orphanet):

Synonyms, Signs: DHMN2B
HMN IIB
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
HMN2B
Number of Symptoms 16
OrphanetNr:
OMIM Id: 608634
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:0009830) Peripheral neuropathy 206 / 7739
2
 (HPO:0002355) Difficulty walking 61 / 7739
3
 (HPO:0002522) Areflexia of lower limbs 16 / 7739
4
 (HPO:0002600) Hyporeflexia of lower limbs 13 / 7739
5
 (HPO:0003445) EMG: neuropathic changes 21 / 7739
6
 (HPO:0002601) Paresis of extensor muscles of the big toe 2 / 7739
7
 (HPO:0009053) Distal lower limb muscle weakness 13 / 7739
8
 (HPO:0003677) Slow progression 134 / 7739
9
 (OMIM) Neurophysiologic studies show a predominantly motor neuropathy 2 / 7739
10
 (OMIM) No sensory deficit 2 / 7739
11
 (OMIM) EMG shows neurogenic abnormalities 8 / 7739
12
 (OMIM) Paralysis and atrophy of distal lower limb muscles over time 1 / 7739
13
 (OMIM) Paresis of extensor muscles of the big toe is often the presenting symptom 1 / 7739
14
 (HPO:0003581) Adult onset 117 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Houlden et al. (2008) reported 5 families with HMN2B. All patients had a remarkably similar slowly progressive disease course with a mean age at onset ranging from 21 to 54 years. Muscle weakness and atrophy started and predominated ...
Molecular genetics OMIM In affected members of 4 different families with dHMN, Evgrafov et al. (2004) identified 4 different mutations in the HSPB1 gene (602195.0001-602195.0004).

Houlden et al. (2008) identified 4 different heterozygous mutations in the HSPB1 gene (see, ...