Marchiafava-Bignami disease
Synonyms: MBD
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marchiafava-Bignami disease | MBD |
| fr | Maladie de Marchiafava-Bignami | = en |
| de | Marchiafava-Bignami-Krankheit | = en |
| es | Enfermedad de Marchiafava-Bignami | |
| it | Malattia di Marchiafava-Bignami | |
| nl | Ziekte van Marchiafava-Bignami | = en |
| pt | Doença de Marchiafava-Bignami | |
| pl | Choroba Marchiafava i Bignami'ego | = en |
| cs | Marchiafavův-Bignamiho syndrom | Marchiafava-Bignamiho syndrom |
| uk | Хвороба Маркіяфава-Біньямі | = en |
| zh | Marchiafava-Bignami病 | = en |
| tr | Marchiafava-Bignami hastalığı | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G37.1 | E | specific | validated |
| ICD-11 | 8A46 | E | specific | validated |
| MONDO | 0016370 | E | validated | |
| MeSH | D054319 | E | validated | |
| UMLS | C0238265 | E | validated | |
| GARD | 6971 | E | validated | |
| MedDRA | 10026828 | 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:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 250 cases | Worldwide | Case(s) | Validated | 11328337[PMID] | |
| 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.
HPO phenotypes
50 annotations · validated 2021-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0030955 | Alcoholism | |
| HP:0100503 | Low levels of vitamin B1 | |
| HP:0004395 | Malnutrition | |
| Frequent (79-30%) | ||
| HP:0100851 | Abnormal emotion/affect behavior | |
| HP:0007305 | CNS demyelination | |
| HP:0100543 | Cognitive impairment | |
| HP:0001259 | Coma | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0002315 | Headache | |
| HP:0002509 | Limb hypertonia | |
| HP:0007185 | Loss of consciousness | |
| HP:0002354 | Memory impairment | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0000504 | Abnormality of vision | |
| HP:0000718 | Aggressive behavior | |
| HP:0030784 | Anomia | |
| HP:0000741 | Apathy | |
| HP:0002381 | Aphasia | |
| HP:0002186 | Apraxia | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0001289 | Confusion | |
| HP:0031258 | Delirium | |
| HP:0000746 | Delusion | |
| HP:0000726 | Dementia | |
| HP:0000716 | Depression | |
| HP:0000651 | Diplopia | |
| HP:0010526 | Dysgraphia | |
| HP:0010522 | Dyslexia | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0010628 | Facial palsy | |
| HP:0001269 | Hemiparesis | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0002300 | Mutism | |
| HP:0000639 | Nystagmus | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0002476 | Primitive reflex | |
| HP:0000709 | Psychosis | |
| HP:0002063 | Rigidity | |
| HP:0001250 | Seizure | |
| HP:0002273 | Tetraparesis | |
| HP:0000020 | Urinary incontinence | |
| HP:0002321 | Vertigo | |
| HP:0002367 | Visual hallucinations | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001945 | Fever | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30252263[PMID]_23978380[PMID]_29384842[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/221074
- This record as JSON: /data/d/221074.json