X-linked Charcot-Marie-Tooth disease type 2

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2
CMTX2
CMT2X
Number of Symptoms 38
OrphanetNr: 101076
OMIM Id: 302801
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked Charcot-Marie-Tooth disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease
X-linked recessive hereditary axonal motor and sensory neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
2
 (HPO:0001284) Areflexia 198 / 7739
3
 (HPO:0003474) Sensory impairment Very frequent [Orphanet] 54 / 7739
4
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
5
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
6
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
7
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
8
 (HPO:0001249) Intellectual disability Rare [HPO:probinson] 1089 / 7739
9
 (HPO:0002936) Distal sensory impairment 96 / 7739
10
 (HPO:0007021) Pain insensitivity Frequent [Orphanet] 35 / 7739
11
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
12
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
13
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
14
 (HPO:0003376) Steppage gait 41 / 7739
15
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
16
 (HPO:0003134) Abnormality of peripheral nerve conduction Very frequent [Orphanet] 38 / 7739
17
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
18
 (HPO:0001761) Pes cavus Very frequent [Orphanet] 225 / 7739
19
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
20
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
21
 (HPO:0010488) Aplasia/Hypoplasia of the palmar creases Very frequent [Orphanet] 15 / 7739
22
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
23
 (HPO:0003693) Distal amyotrophy Rare [HPO:probinson] 118 / 7739
24
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
25
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
26
 (HPO:0002460) Distal muscle weakness 122 / 7739
27
 (HPO:0003482) EMG: axonal abnormality 3 / 7739
28
 (HPO:0003484) Upper limb muscle weakness 19 / 7739
29
 (OMIM) EMG findings suggest axonal involvement 2 / 7739
30
 (OMIM) Decreased nerve conduction velocities (NCV), suggesting demyelination 2 / 7739
31
 (OMIM) Upper limb involvement may occur later 10 / 7739
32
 (OMIM) Distal muscle atrophy due to peripheral neuropathy 2 / 7739
33
 (OMIM) Mental retardation has been reported 3 / 7739
34
 (HPO:0003593) Infantile onset 249 / 7739
35
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
36
 (OMIM) Distal muscle weakness due to peripheral neuropathy 4 / 7739
37
 (OMIM) Mild to moderate distal sensory impairment 2 / 7739
38
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ionasescu et al. (1991, 1992) studied 3 families with X-linked recessive Charcot-Marie-Tooth neuropathy of the type reported by Erwin (1944). The phenotype of family 1 was characterized by onset in infancy, atrophy and weakness of lower leg muscles, ...