Metachromatic leukodystrophy, juvenile form
Synonyms: Arylsulfatase A deficiency, juvenile form · MLD, juvenile form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metachromatic leukodystrophy, juvenile form | Arylsulfatase A deficiency, juvenile form · MLD, juvenile form |
| fr | Leucodystrophie métachromatique juvénile | Déficit en arylsulfatase A, forme juvénile · MLD, forme juvénile |
| de | Leukodystrophie, metachromatische, juvenile Form | Arylsulfatase A-Mangel, juvenile Form · MLD, juvenile Form |
| es | Leucodistrofia metacromática, forma juvenil | Deficiencia de arilsulfatasa A, forma juvenil · MLD, forma juvenil |
| it | Leucodistrofia metacromatica, forma giovanile | Deficit di arilsulfatasi A, forma giovanile · MLD, forma giovanile |
| nl | Metachromatische leukodystrofie, juveniele vorm | Arylsulfatase A-deficiëntie, juveniele vorm · MLD, juveniele vorm |
| pt | Leucodistrofia metacromática, forma juvenil | |
| pl | Leukodystrofia metachromatyczna, postać młodzieńcza | MLD, postać młodzieńcza · Niedobór arylsulfatazy A, postać młodzieńcza |
| cs | Metachromatická leukodystrofie, forma juvenilní | Deficit arylsulfatázy A, forma juvenilní · MLD, forma juvenilní |
| uk | Метахроматична лейкодистрофія, ювенільна форма | Дефіцит арилсульфатази А, ювенільна форма · МЛД, ювенільна форма |
| zh | 青少年型异染性脑白质营养不良 | 青少年型芳香硫酸酯酶A缺乏 |
| tr | Metakromatik lökodistrofi, juvenil formu | MLD, jüvenil formu · Arilsülfataz A eksikliği, genç 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 | 0009591 | E | validated | |
| UMLS | C0751276 | 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
37 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:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0002359 | Frequent falls | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0002415 | Leukodystrophy | |
| HP:0001324 | Muscle weakness | |
| HP:0000648 | Optic atrophy | |
| HP:0030081 | Punctate periventricular T2 hyperintense foci | |
| HP:0000736 | Short attention span | |
| HP:0000020 | Urinary incontinence | |
| 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:0001082 | Cholecystitis | |
| HP:0000746 | Delusion | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0000712 | Emotional lability | |
| HP:0000738 | Hallucinations | |
| 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:0007663 | Reduced visual acuity | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| Very rare (<4-1%) | ||
| HP:0025013 | Decerebrate rigidity | |
| HP:0031358 | Vegetative state | |
Annotation source: 5963214[PMID]_2876627[PMID]_20038527[PMID]_21707604[PMID]_14206875[PMID]_10682309[PMID]_21502868[PMID]_21955203[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309263
- This record as JSON: /data/d/309263.json