Dejerine-Sottas syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III
HMSN 3
DEJERINE-SOTTAS NEUROPATHY
CHARCOT-MARIE-TOOTH DISEASE, TYPE 3
DEJERINE-SOTTAS SYNDROME
DSN
CMT3
DSS
HMSN3
Hypertrophic neuropathy of infancy
Hereditary motor and sensory neuropathy type 3
Charcot-Marie-Tooth disease type 3
Number of Symptoms 41
OrphanetNr: 64748
OMIM Id: 145900
ICD-10: G60.0
UMLs: C0011195
MeSH: C538392
MedDRA:
Snomed: 111499002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hereditary motor and sensory neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
2
 (HPO:0001265) Hyporeflexia 208 / 7739
3
 (HPO:0003376) Steppage gait 41 / 7739
4
 (HPO:0001288) Gait disturbance 318 / 7739
5
 (HPO:0010871) Sensory ataxia 7 / 7739
6
 (HPO:0001284) Areflexia 198 / 7739
7
 (HPO:0003481) Segmental peripheral demyelination/remyelination 12 / 7739
8
 (HPO:0002936) Distal sensory impairment 96 / 7739
9
 (HPO:0003383) Onion bulb formation 30 / 7739
10
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
11
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
12
 (HPO:0001270) Motor delay 322 / 7739
13
 (HPO:0003382) Hypertrophic nerve changes 6 / 7739
14
 (HPO:0002922) Increased CSF protein 27 / 7739
15
 (HPO:0001760) Abnormality of the foot 96 / 7739
16
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
17
 (HPO:0001822) Hallux valgus 70 / 7739
18
 (HPO:0001178) Ulnar claw 8 / 7739
19
 (HPO:0001765) Hammertoe 63 / 7739
20
 (HPO:0001763) Pes planus 176 / 7739
21
 (HPO:0002751) Kyphoscoliosis 131 / 7739
22
 (HPO:0001838) Rocker bottom foot 85 / 7739
23
 (HPO:0001761) Pes cavus 225 / 7739
24
 (HPO:0001171) Split hand 72 / 7739
25
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
26
 (HPO:0001324) Muscle weakness 859 / 7739
27
 (HPO:0003693) Distal amyotrophy 118 / 7739
28
 (HPO:0002460) Distal muscle weakness 122 / 7739
29
 (HPO:0001252) Muscular hypotonia 990 / 7739
30
 (HPO:0010547) Muscle flaccidity 466 / 7739
31
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
32
 (OMIM) Decreased number of myelinated fibers 6 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (HPO:0003593) Infantile onset 249 / 7739
35
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
36
 (HPO:0003828) Variable expressivity 130 / 7739
37
 (OMIM) Segmental demyelination/remyelination on nerve biopsy 9 / 7739
38
 (HPO:0001425) Heterogeneous 132 / 7739
39
 (OMIM) Kyphoscoliosis may occur 4 / 7739
40
 (OMIM) Severely decreased motor nerve conduction velocity (NCV) (15 m/s) 3 / 7739
41
 (OMIM) 'Onion bulb' formation on nerve biopsy 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. ...
Clinical Description OMIM Andermann et al. (1962) described Dejerine-Sottas hypertrophic neuropathy in grandfather, father, and 4-year-old daughter. Features included nystagmus, distal muscular weakness, distal sensory change, pes cavus and exacerbations and remissions. Isaacs (1960) described a family in which paralysis of ...
Molecular genetics OMIM Hayasaka et al. (1993) investigated the MPZ gene as a candidate gene in 2 sporadic cases of Dejerine-Sottas neuropathy. They found 2 different mutations in the patients (159440.0004, 159440.0005). Roa et al. (1993) demonstrated that 2 point mutations ...