Charcot-Marie-Tooth disease type 4C
Synonyms: CMT4C
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A form of Charcot-Marie-Tooth disease type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4C | CMT4C |
| fr | Maladie de Charcot-Marie-Tooth type 4C | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 4C | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4C | |
| it | Malattia di Charcot-Marie-Tooth, tipo 4C | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 4C | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 4C | |
| pl | Choroba Charcota, Mariego i Tootha typu 4C | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4C | CMT4C · Charcot-Marie-Toothova nemoc, typ 4C |
| uk | Хвороба Шарко-Марі-Тута, тип 4С | = en |
| zh | 腓骨肌萎缩症4C型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 4C | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601596 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0011113 | E | validated | |
| MeSH | C535423 | E | validated | |
| UMLS | C1866636 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:64749Charcot-Marie-Tooth disease type 4
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SH3TC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29427 | ENSG00000169247 | 608206 | 5q32 | SH3 domain and tetratricopeptide repeats 2 | 20301514[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
51 annotations · validated 2025-05-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0007141 | Sensorimotor neuropathy | |
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002359 | Frequent falls | |
| HP:0002066 | Gait ataxia | |
| HP:0001765 | Hammertoe | |
| HP:0006886 | Impaired distal vibration sensation | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| HP:0001761 | Pes cavus | |
| HP:0002650 | Scoliosis | |
| HP:0008443 | Spinal deformities | |
| HP:0001308 | Tongue fasciculations | |
| Occasional (29-5%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0007695 | Abnormal pupillary light reflex | |
| HP:0009916 | Anisocoria | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0000651 | Diplopia | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0007209 | Facial paralysis | |
| HP:0001508 | Failure to thrive | |
| HP:0002346 | Head tremor | |
| HP:0001385 | Hip dysplasia | |
| HP:0002791 | Hypoventilation | |
| HP:0007328 | Impaired pain sensation | |
| HP:0002540 | Inability to walk | |
| HP:0000639 | Nystagmus | |
| HP:0001763 | Pes planus | |
| HP:0002403 | Positive Romberg sign | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0010871 | Sensory ataxia | |
| HP:0000486 | Strabismus | |
| HP:0012473 | Tongue atrophy | |
| HP:0000183 | Tongue muscle weakness | |
| HP:0001604 | Vocal cord paresis | |
| HP:0030319 | Weakness of facial musculature | |
| Very rare (<4-1%) | ||
| HP:0000648 | Optic atrophy | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0008081 | Pes valgus | |
| HP:0100661 | Trigeminal neuralgia | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 28981955[PMID]_20301514[PMID]_27231023[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99949
- This record as JSON: /data/d/99949.json