Charcot-Marie-Tooth disease type 4A
Synonyms: CMT4A
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing axonal, demyelinating, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4A | CMT4A |
| fr | Maladie de Charcot-Marie-Tooth type 4A | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 4A | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4A | |
| it | Malattia di Charcot-Marie-Tooth, tipo 4A | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 4A | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 4A | |
| pl | Choroba Charcota, Mariego i Tootha typu 4A | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4A | CMT4A · Charcot-Marie-Toothova nemoc, typ 4A |
| uk | Хвороба Шарко-Марі-Тута, тип 4А | = en |
| zh | 腓骨肌萎缩症4A型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 4A | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214400 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0008961 | E | validated | |
| MeSH | C535419 | E | validated | |
| UMLS | C1859198 | 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 |
|---|---|---|---|---|---|---|---|---|
| GDAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15968 | ENSG00000104381 | 606598 | 8q21.11 | ganglioside induced differentiation associated protein 1 | 20301711[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
40 annotations · validated 2021-10-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0003457 | EMG abnormality | |
| HP:0001761 | Pes cavus | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0007015 | Poor gross motor coordination | |
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0007267 | Chronic axonal neuropathy | |
| HP:0009072 | Decreased Achilles reflex | |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers | |
| HP:0001765 | Hammertoe | |
| HP:0030237 | Hand muscle weakness | |
| HP:0001609 | Hoarse voice | |
| HP:0012391 | Hyporeflexia of upper limbs | |
| HP:0006858 | Impaired distal proprioception | |
| HP:0006937 | Impaired distal tactile sensation | |
| HP:0006886 | Impaired distal vibration sensation | |
| HP:0007328 | Impaired pain sensation | |
| HP:0002540 | Inability to walk | |
| HP:0009473 | Joint contracture of the hand | |
| HP:0006064 | Limited interphalangeal movement | |
| HP:0006248 | Limited wrist movement | |
| HP:0001270 | Motor delay | |
| HP:0002317 | Unsteady gait | |
| HP:0001604 | Vocal cord paresis | |
| Occasional (29-5%) | ||
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0009109 | Denervation of the diaphragm | |
| HP:0002359 | Frequent falls | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0012078 | Motor conduction block | |
| HP:0003731 | Quadriceps muscle weakness | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0002650 | Scoliosis | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| HP:0008443 | Spinal deformities | |
| Very rare (<4-1%) | ||
| HP:0030319 | Weakness of facial musculature | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 26848201[PMID]_20301711[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99948
- This record as JSON: /data/d/99948.json