Charcot-Marie-Tooth disease type 4D
Synonyms: CMT4D · HMSN, Lom type · HMSN-Lom · Hereditary motor and sensory neuropathy, Lom type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A form of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. It was initially reported in the Lom Roma community due to a common founder variant, and called hereditary motor and sensory neuropathy, Lom type. Other variants were reported since.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 4D | CMT4D · HMSN, Lom type · HMSN-Lom · Hereditary motor and sensory neuropathy, Lom type |
| fr | Maladie de Charcot-Marie-Tooth type 4D | CMT4D · HMSN type Lom · HMSN-Lom · NSMH type Lom · NSMH-Lom · Neuropathie sensitivo-motrice héréditaire type Lom |
| de | Charcot-Marie-Tooth-Krankheit Typ 4D | CMT4D · HMSN, Typ Lom · Neuropathie, hereditäre motorisch-sensorische, Typ Lom |
| es | Enfermedad de Charcot-Marie-Tooth tipo 4D | CMT4D · HMSN tipo Lom · HMSN-Lom · Neuropatía hereditaria sensitivo-motora, tipo Lom |
| it | Malattia di Charcot-Marie-Tooth, tipo 4D | CMT4D · HMSN, tipo Lom · HMSN-Lom · Neuropatia sensitivo-motoria ereditaria, tipo Lom |
| nl | Ziekte van Charcot-Marie-Tooth type 4D | CMT4D · HMSN, Lom-type · HMSN-Lom · Hereditaire motorische en sensorische neuropathie, Lom-type |
| pt | Doença de Charcot-Marie-Tooth tipo 4D | |
| pl | Choroba Charcota, Mariego i Tootha typu 4D | CMT4D · Dziedziczna neuropatia ruchowa i czuciowa, typ Loma · HMSN, typ Loma · HMSN-Lom |
| cs | Charcotova-Marieova-Toothova nemoc, typ 4D | CMT4D · HMSN, lomský typ · Lomská HMSN · Hereditární motorická a senzorická neuropatie, lomský typ · Charcot-Marie-Toothova nemoc, typ 4D |
| uk | Хвороба Шарко-Марі-Тута, тип 4D | CMT4D · Спадкова моторна та сенсорна нейропатія, тип Лом · HMSN, тип Lom · HMSN-Lom |
| zh | 腓骨肌萎缩症4D型 | Lom型HMSN |
| tr | Charcot-Marie-Tooth hastalığı tip 4D | CMT4D · HMSN-Lom · HMSN, Lom tip · Kalıtsal motor ve duyusal nöropati, Lom tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601455 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0011085 | E | validated | |
| MeSH | C535716 | E | validated | |
| UMLS | C1832334 | 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 |
|---|---|---|---|---|---|---|---|---|
| NDRG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7679 | ENSG00000104419 | 605262 | 8q24.22 | N-myc downstream regulated 1 | 10831399[PMID]_20301641[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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
22 annotations · validated 2021-03-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007078 | Decreased amplitude of sensory action potentials | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0002460 | Distal muscle weakness | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0001270 | Motor delay | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0002936 | Distal sensory impairment | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0001765 | Hammertoe | |
| HP:0002540 | Inability to walk | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001761 | Pes cavus | |
| HP:0002174 | Postural tremor | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0032649 | Skewfoot | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001171 | Split hand | |
| HP:0009129 | Upper limb amyotrophy | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 28003645[PMID]_24136616[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99950
- This record as JSON: /data/d/99950.json