ORPHA:137867
Madras motor neuron disease
Synonyms: MMND
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable, X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Madras motor neuron disease | MMND |
| fr | Maladie du motoneurone type Madras | |
| de | Motoneuron-Krankheit Madras | = en |
| es | Enfermedad de las motoneuronas de Madras | |
| it | Malattia dei motoneuroni di Madras | = en |
| nl | Motorneuronziekte van Madras | = en |
| pt | Doença do neurónio motor Madras | |
| pl | Choroba neuronu ruchowego z Madrasu | = en |
| cs | Madráská nemoc motorických neuronů | = en |
| uk | Мадраська хвороба рухових нейронів | = en |
| zh | Madras运动神经元病 | = en |
| tr | Madras motor nöron hastalığı | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B60.7 | E | specific | validated |
| MONDO | 0015307 | E | validated | |
| UMLS | C0393551 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98505Genetic motor neuron disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
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HPO phenotypes
17 annotations · validated 2016-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001283 | Bulbar palsy | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0007289 | Limb fasciculations | |
| HP:0001621 | Weak voice | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002015 | Dysphagia | |
| HP:0000648 | Optic atrophy | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0100753 | Schizophrenia | |
| HP:0000360 | Tinnitus | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0010628 | Facial palsy | |
| HP:0007663 | Reduced visual acuity | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 18261745[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137867
- This record as JSON: /data/d/137867.json