CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMALRECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM
Number of Symptoms 13
OrphanetNr:
OMIM Id: 607706
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001604) Vocal cord paresis 8 / 7739
2
(HPO:0001284) Areflexia 198 / 7739
3
(HPO:0001761) Pes cavus 225 / 7739
4
(HPO:0001171) Split hand 72 / 7739
5
(HPO:0001371) Flexion contracture 220 / 7739
6
(HPO:0008443) Spinal deformities 5 / 7739
7
(HPO:0002460) Distal muscle weakness 122 / 7739
8
(OMIM) Axonal degeneration/regeneration on nerve biopsy 10 / 7739
9
(OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
10
(OMIM) Decreased number of myelinated fibers 6 / 7739
11
(OMIM) Severe distal sensory loss 1 / 7739
12
(OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
13
(OMIM) Occasional onion bulb formations 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cuesta et al. (2002) reported 3 families of Spanish ancestry with an autosomal recessive axonal CMT phenotype associated with hoarse voice and vocal cord paresis. The clinical picture was characterized by onset in childhood of weakness and hand ...
Molecular genetics OMIM In 3 Spanish families with autosomal recessive axonal neuropathy, Cuesta et al. (2002) identified mutations in the GDAP1 gene (see, e.g., 606598.0004). Thus, mutations in GDAP1 are associated with both axonal and demyelinating phenotypes, as has been reported ...