Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE A
DI-CMTA
CMTDIA
Number of Symptoms 20
OrphanetNr: 100043
OMIM Id: 606483
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:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant intermediate Charcot-Marie-Tooth disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001265) Hyporeflexia 208 / 7739
2
 (HPO:0003481) Segmental peripheral demyelination/remyelination 12 / 7739
3
 (HPO:0003378) Axonal degeneration/regeneration 12 / 7739
4
 (HPO:0001288) Gait disturbance 318 / 7739
5
 (HPO:0002936) Distal sensory impairment 96 / 7739
6
 (HPO:0003383) Onion bulb formation 30 / 7739
7
 (HPO:0007107) Segmental peripheral demyelination 3 / 7739
8
 (HPO:0001284) Areflexia 198 / 7739
9
 (HPO:0003376) Steppage gait 41 / 7739
10
 (HPO:0001761) Pes cavus 225 / 7739
11
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
12
 (HPO:0003394) Muscle cramps 106 / 7739
13
 (HPO:0002460) Distal muscle weakness 122 / 7739
14
 (HPO:0003693) Distal amyotrophy 118 / 7739
15
 (OMIM) Axonal degeneration/regeneration on nerve biopsy 10 / 7739
16
 (OMIM) Low to normal range of motor nerve conduction velocities (23 to 45 m/sec) ('intermediate' CMT) 4 / 7739
17
 (HPO:0003674) Onset 32 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (OMIM) Rare 'onion bulb' formations 1 / 7739
20
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMT neuropathy is subdivided ...