Charcot-Marie-Tooth disease type 4F

General Information (adopted from Orphanet):

Synonyms, Signs: CMT4F
Number of Symptoms 26
OrphanetNr: 99952
OMIM Id: 614895
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: Charcot-Marie-Tooth disease type 4
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001251) Ataxia 413 / 7739
2
(HPO:0001270) Motor delay 322 / 7739
3
(HPO:0003387) Decreased number of large peripheral myelinated nerve fibers 11 / 7739
4
(HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
5
(HPO:0001284) Areflexia 198 / 7739
6
(HPO:0003400) Basal lamina 'onion bulb' formation 3 / 7739
7
(HPO:0002066) Gait ataxia 327 / 7739
8
(HPO:0002936) Distal sensory impairment 96 / 7739
9
(HPO:0002355) Difficulty walking 61 / 7739
10
(HPO:0011096) Peripheral demyelination 28 / 7739
11
(HPO:0001604) Vocal cord paresis rare [HPO:skoehler] 8 / 7739
12
(HPO:0010871) Sensory ataxia rare [HPO:skoehler] 7 / 7739
13
(HPO:0002311) Incoordination 84 / 7739
14
(HPO:0001761) Pes cavus 225 / 7739
15
(HPO:0002650) Scoliosis 705 / 7739
16
(HPO:0003690) Limb muscle weakness 41 / 7739
17
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(HPO:0003677) Slow progression 134 / 7739
20
(OMIM) Distal lower limb muscle atrophy due to peripheral neuropathy 3 / 7739
21
(OMIM) Distal lower limb muscle weakness due to peripheral neuropathy 3 / 7739
22
(OMIM) Focally folded myelin 2 / 7739
23
(OMIM) Distal upper limb involvement may occur later 2 / 7739
24
(OMIM) Proximal lower limb involvement 2 / 7739
25
(OMIM) Focal myelin thickening 1 / 7739
26
(OMIM) Sural nerve biopsy shows demyelination 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Charcot-Marie-Tooth disease type 4F is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy ...
Clinical Description OMIM Delague et al. (2000) reported a large inbred Lebanese family affected with autosomal recessive demyelinating Charcot-Marie-Tooth disease in which they excluded linkage to the previously known CMT4 loci. Clinical features and results of histopathologic studies confirmed that the ...
Molecular genetics OMIM In affected members of a Lebanese family with CMT4F studied by Delague et al. (2000), Guilbot et al. (2001) identified a homozygous truncating mutation in the PRX gene (R196X; 605725.0005).

In 2 sibs with CMT4F, Takashima ...