Metachromatic leukodystrophy, adult form
Synonyms: Arylsulfatase A deficiency, adult form · MLD, adult form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metachromatic leukodystrophy, adult form | Arylsulfatase A deficiency, adult form · MLD, adult form |
| fr | Leucodystrophie métachromatique de l'adulte | Déficit en arylsulfatase A, forme adulte · MLD, forme adulte |
| de | Leukodystrophie, metachromatische, adulte Form | Arylsulfatase A-Mangel, adulte Form · MLD, adulte Form |
| es | Leucodistrofia metacromática, forma adulta | Deficiencia de arilsulfatasa A, forma adulta · MLD, forma adulta |
| it | Leucodistrofia metacromatica, forma dell'adulto | Deficit di arilsulfatasi A, forma dell'adulto · MLD, forma dell'adulto |
| nl | Metachromatische leukodystrofie, volwassen vorm | Arylsulfatase A-deficiëntie, volwassen vorm · MLD, volwassen vorm |
| pt | Leucodistrofia metacromática, forma adulta | |
| pl | Leukodystrofia metachromatyczna, postać dorosła | MLD, postać dorosła · Niedobór arylsulfatazy A, postać dorosła |
| cs | Metachromatická leukodystrofie, adultní forma | Deficit arylsulfatázy A, adultní forma · MLD, adultní forma |
| uk | Метахроматична лейкодистрофія, доросла форма | Дефіцит арилсульфатази А, доросла форма · МЛД, доросла форма |
| zh | 成人型异染性脑白质营养不良 | 成人型芳香硫酸酯酶A缺乏 |
| tr | Metakromatik lökodistrofi, yetişkin formu | MLD, erişkin formu · Arilsülfataz A eksikliği, erişkin formu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250100 | NTBT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.02 | NTBT | index | validated |
| MONDO | 0017730 | E | validated | |
| UMLS | C0751279 | 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:512Metachromatic leukodystrophy
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARSA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:713 | ENSG00000100299 | 607574 | 22q13.33 | arylsulfatase A | 20301309[PMID] |
| PSAP | Disease-causing germline mutation(s) in | Assessed | HGNC:9498 | ENSG00000197746 | 176801 | 10q22.1 | prosaposin | 24478108[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
| 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
48 annotations · validated 2018-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0004343 | Abnormal glycosphingolipid metabolism | |
| HP:0012433 | Abnormal social behavior | |
| HP:0002312 | Clumsiness | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0000746 | Delusion | |
| HP:0000726 | Dementia | |
| HP:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0000712 | Emotional lability | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000738 | Hallucinations | |
| HP:0001265 | Hyporeflexia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0002415 | Leukodystrophy | |
| HP:0002354 | Memory impairment | |
| HP:0001324 | Muscle weakness | |
| HP:0000648 | Optic atrophy | |
| HP:0030081 | Punctate periventricular T2 hyperintense foci | |
| HP:0000736 | Short attention span | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0003487 | Babinski sign | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0002607 | Bowel incontinence | |
| HP:0002483 | Bulbar signs | |
| HP:0001082 | Cholecystitis | |
| HP:0002072 | Chorea | |
| HP:0000716 | Depression | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0002080 | Intention tremor | |
| HP:0002371 | Loss of speech | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0007133 | Progressive peripheral neuropathy | |
| HP:0007272 | Progressive psychomotor deterioration | |
| HP:0002478 | Progressive spastic quadriplegia | |
| HP:0007663 | Reduced visual acuity | |
| HP:0100753 | Schizophrenia | |
| HP:0001257 | Spasticity | |
| HP:0000020 | Urinary incontinence | |
| Very rare (<4-1%) | ||
| HP:0025013 | Decerebrate rigidity | |
| HP:0100575 | Neoplasm of the gallbladder | |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
| HP:0001250 | Seizure | |
| HP:0031358 | Vegetative state | |
Annotation source: 15710861[PMID]_2905384[PMID]_5963214[PMID]_2876627[PMID]_20038527[PMID]_21707604[PMID]_14206875[PMID]_10682309[PMID]_21502868[PMID]_21955203[PMID]_27261095[PMID]_1674357[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309271
- This record as JSON: /data/d/309271.json