Hereditary motor and sensory neuropathy type 6

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6
HMSN VI
HMSN6
CMT6
Charcot-Marie-Tooth disease type 6
peripheral neuropathy and optic atrophy
Number of Symptoms 39
OrphanetNr: 90120
OMIM Id: 601152
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Autosomal dominant hereditary axonal motor and sensory neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Charcot-Marie-Tooth disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000458) Anosmia 49 / 7739
2
 (HPO:0010632) Total anosmia 6 / 7739
3
 (HPO:0000641) Dysmetric saccades 10 / 7739
4
 (HPO:0000603) Central scotoma 18 / 7739
5
 (HPO:0000551) Abnormality of color vision 20 / 7739
6
 (HPO:0000648) Optic atrophy 238 / 7739
7
 (HPO:0000649) Abnormality of visual evoked potentials 34 / 7739
8
 (HPO:0007924) Slow decrease in visual acuity 4 / 7739
9
 (HPO:0000543) Optic disc pallor 67 / 7739
10
 (HPO:0007641) Dyschromatopsia 19 / 7739
11
 (HPO:0000360) Tinnitus 29 / 7739
12
 (HPO:0008587) Mild neurosensory hearing impairment Rare [HPO:probinson] 2 / 7739
13
 (HPO:0003378) Axonal degeneration/regeneration 12 / 7739
14
 (HPO:0002936) Distal sensory impairment 96 / 7739
15
 (HPO:0002403) Positive Romberg sign 11 / 7739
16
 (HPO:0001288) Gait disturbance 318 / 7739
17
 (HPO:0003409) Distal sensory impairment of all modalities 3 / 7739
18
 (HPO:0003376) Steppage gait 41 / 7739
19
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
20
 (HPO:0001265) Hyporeflexia 208 / 7739
21
 (HPO:0001604) Vocal cord paresis 8 / 7739
22
 (HPO:0001284) Areflexia 198 / 7739
23
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
24
 (HPO:0001761) Pes cavus 225 / 7739
25
 (HPO:0002650) Scoliosis 705 / 7739
26
 (HPO:0002460) Distal muscle weakness 122 / 7739
27
 (HPO:0003701) Proximal muscle weakness 105 / 7739
28
 (HPO:0003693) Distal amyotrophy 118 / 7739
29
 (HPO:0003690) Limb muscle weakness 41 / 7739
30
 (OMIM) Scoliosis in severe cases 1 / 7739
31
 (OMIM) Hearing loss, mild (rare) 1 / 7739
32
 (OMIM) Nerve biopsy shows axonal degeneration/regeneration 1 / 7739
33
 (OMIM) Cogwheel ocular pursuit 1 / 7739
34
 (OMIM) Recovery of visual acuity occurs in 60% of patients 1 / 7739
35
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
36
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
37
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
38
 (HPO:0003593) Infantile onset 249 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

MFN2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dyck et al. (1993) referred to a report by Vizioli (1889) describing a father and 2 sons with optic atrophy in association with peroneal muscular atrophy. The father became ill at age 59, one son at age 26, and ...
Molecular genetics OMIM In affected members of 6 unrelated families with autosomal dominant HMSN VI, Zuchner et al. (2006) identified 6 different heterozygous mutations in the MFN2 gene (see, e.g., 608507.0009-608607.0012).