Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A
RI-CMTA
CMTRIA
RI-CMT type A
Number of Symptoms 30
OrphanetNr: 217055
OMIM Id: 608340
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: Autosomal recessive intermediate Charcot-Marie-Tooth disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0009830) Peripheral neuropathy 206 / 7739
2
 (HPO:0011096) Peripheral demyelination 28 / 7739
3
 (HPO:0002936) Distal sensory impairment 96 / 7739
4
 (HPO:0001288) Gait disturbance 318 / 7739
5
 (HPO:0003383) Onion bulb formation 30 / 7739
6
 (HPO:0003387) Decreased number of large peripheral myelinated nerve fibers 11 / 7739
7
 (HPO:0001265) Hyporeflexia 208 / 7739
8
 (HPO:0001284) Areflexia 198 / 7739
9
 (HPO:0003376) Steppage gait 41 / 7739
10
 (HPO:0001761) Pes cavus 225 / 7739
11
 (HPO:0001171) Split hand 72 / 7739
12
 (HPO:0001178) Ulnar claw 8 / 7739
13
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
14
 (HPO:0001762) Talipes equinovarus 309 / 7739
15
 (HPO:0002650) Scoliosis 705 / 7739
16
 (HPO:0003690) Limb muscle weakness 41 / 7739
17
 (HPO:0003445) EMG: neuropathic changes 21 / 7739
18
 (HPO:0003693) Distal amyotrophy 118 / 7739
19
 (OMIM) Regenerating axons 1 / 7739
20
 (OMIM) Occasional early 'onion' bulb formations 1 / 7739
21
 (OMIM) Normal to decreased nerve conduction velocities (NCV) 1 / 7739
22
 (OMIM) Lower and upper limb muscle atrophy due to peripheral neuropathy 1 / 7739
23
 (OMIM) Lower and upper limb muscle weakness due to peripheral neuropathy 1 / 7739
24
 (OMIM) Thin myelination 1 / 7739
25
 (HPO:0011463) Childhood onset 65 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (OMIM) Clumsy gait 3 / 7739
28
 (OMIM) Normal early motor milestones 1 / 7739
29
 (OMIM) Loss of large myelinated fibers seen on nerve biopsy 1 / 7739
30
 (OMIM) Neuropathic changes seen on EMG 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nelis et al. (2002) reported a consanguineous Turkish family in which 2 sisters had a mixed form of axonal and demyelinating autosomal recessive Charcot-Marie-Tooth disease. Onset was at the age of 4 years in both with foot deformity. ...
Molecular genetics OMIM In a consanguineous Turkish family in which 2 sisters had a mixed form of axonal and demyelinating autosomal recessive CMT disease, Nelis et al. (2002) identified a homozygous mutation in the GDAP1 gene (606598.0006).

In affected ...