Charcot-Marie-Tooth disease type 4G

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4G
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4G
CMT4G
HMSNR
hereditary motor and sensory neuropathy, russe type
Number of Symptoms 20
OrphanetNr: 99953
OMIM Id: 605285
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: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Charcot-Marie-Tooth disease type 4
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
2
 (HPO:0001265) Hyporeflexia 208 / 7739
3
 (HPO:0003450) Axonal regeneration 4 / 7739
4
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
5
 (HPO:0009830) Peripheral neuropathy 206 / 7739
6
 (HPO:0007182) Peripheral hypomyelination 7 / 7739
7
 (HPO:0002355) Difficulty walking 61 / 7739
8
 (HPO:0003387) Decreased number of large peripheral myelinated nerve fibers 11 / 7739
9
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
10
 (HPO:0001155) Abnormality of the hand 54 / 7739
11
 (HPO:0001760) Abnormality of the foot 96 / 7739
12
 (HPO:0002460) Distal muscle weakness 122 / 7739
13
 (OMIM) Proximal lower limb muscle weakness, later (in some patients) 1 / 7739
14
 (HPO:0003676) Progressive disorder 148 / 7739
15
 (OMIM) Thin myelin sheaths 4 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Increased threshold for electrical stimulation 1 / 7739
18
 (OMIM) Hypomyelination on nerve biopsy 1 / 7739
19
 (OMIM) Prominent sensory loss, distal 1 / 7739
20
 (OMIM) Distal limb paralysis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as ...
Clinical Description OMIM During studies of Romany (Gypsy) families with the Lom type of hereditary motor and sensory neuropathy (CMT4D; 601455), Rogers et al. (2000) identified a large kindred with 2 independently segregating autosomal recessive neuropathies. The novel disorder, which the ...
Molecular genetics OMIM In all 34 individuals with Russe type of hereditary motor and sensory neuropathy who were studied, Hantke et al. (2009) identified 2 homozygous sequence changes in the HK1 gene (142600), which maps within the candidate disease interval on ...
Population genetics OMIM HMSNR is the second most common cause of Charcot-Marie-Tooth disease in the Spanish Gypsy population (Roma) after CMT4C (601596), and is associated with a homozygous founder variant in the HK1 gene (142600.0003). Sevilla et al., 2013 found that ...