Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

General Information (adopted from Orphanet):

Synonyms, Signs: DI-CMTD
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D
CMTDID
Number of Symptoms 13
OrphanetNr: 100046
OMIM Id: 607791
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:0003378) Axonal degeneration/regeneration 12 / 7739
2
(HPO:0001265) Hyporeflexia 208 / 7739
3
(HPO:0003481) Segmental peripheral demyelination/remyelination 12 / 7739
4
(HPO:0001284) Areflexia 198 / 7739
5
(HPO:0002936) Distal sensory impairment 96 / 7739
6
(HPO:0003484) Upper limb muscle weakness 19 / 7739
7
(HPO:0003693) Distal amyotrophy 118 / 7739
8
(HPO:0002460) Distal muscle weakness 122 / 7739
9
(OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Upper limb involvement may occur later 10 / 7739
12
(OMIM) Axonal degeneration/regeneration on nerve biopsy 10 / 7739
13
(OMIM) Low to normal range of nerve conduction velocity (NCV) (24-41 m/s) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mastaglia et al. (1999) reported a 4-generation Macedonian family with autosomal dominant HMSN characterized by variable severity and motor nerve conduction velocities in the intermediate range. Affected members displayed a symmetric pattern of distal muscle atrophy, weakness, and ...
Molecular genetics OMIM In patients with an intermediate form of CMT between CMT1 and CMT2, Mastaglia et al. (1999) identified a mutation in the MPZ gene (159440.0018).