ORPHA:137898
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Synonyms: LBSL · Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | LBSL · Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome |
| fr | Syndrome de leucoencéphalopathie avec atteinte du tronc cérébral et de la moelle épinière-élévation des lactates | |
| de | Syndrom der Leukoenzephalopathie mit Hirnstamm- und Rückenmarkbeteiligung und Laktaterhöhung | LBSL |
| es | Síndrome de leucoencefalopatía con afectación del tronco del encéfalo y a la médula espinal-lactato elevado | LBSL · Síndrome de leucoencefalopatía con afectación del tronco del encéfalo y a la médula espinal-elevación del lactato |
| it | Leucoencefalopatia con coinvolgimento del tronco cerebrale e del midollo spinale - livelli elevati di lattato | LBSL |
| nl | Leuko-encefalopathie met betrokkenheid van hersenstam en ruggenmerg - hoog lactaatgehalte-syndroom | LBSL |
| pt | Síndrome de leucoencefalopatia com envolvimento do tronco cerebral e medula-lactato aumentado | |
| pl | Leukoencefalopatia z zaangażowaniem pnia mózgu i rdzenia kręgowego - podwyższony poziom mleczanu | LBSL |
| cs | Syndrom zahrnující leukoencefalopatii s involucí mozkového kmene a míchy a vysokou hladinu laktátu | LBSL · Syndrom zahrnující leukoencefalopatii s involucí mozkového kmene a míchy a elevaci laktátu |
| uk | Синдром лейкоенцефалопатії з ураженням стовбура та спинного мозку-підвищеного лактату | LBSL · Лейкоенцефалопатія з ураженням стовбура та спинного мозку - синдром підвищення рівня лактату |
| zh | 脑干脊髓受累脑白质病-高乳酸综合征 | LBSL |
| tr | Beyin sapı ve omurilik tutulumu olan lökoensefalopati - yüksek laktat sendromu | Beyin sapı ve omurilik tutulumu-laktat yükselmesi sendromu ile seyreden lökoensefalopati · LBSL |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611105 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | index | validated |
| MONDO | 0012622 | E | validated | |
| MeSH | C567009 | E | validated | |
| UMLS | C1970180 | E | validated | |
| GARD | 12652 | 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 (4):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:25538 | ENSG00000117593 | 610956 | 1q25.1 | aspartyl-tRNA synthetase 2, mitochondrial | 17384640[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 127 cases | Worldwide | Case(s) | Validated | 24566671[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.
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HPO phenotypes
50 annotations · validated 2019-09-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011397 | Abnormality of the dorsal column of the spinal cord | |
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0003487 | Babinski sign | |
| HP:0002312 | Clumsiness | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001260 | Dysarthria | |
| HP:0006978 | Dysmyelinating leukodystrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0002505 | Loss of ambulation | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0002191 | Progressive spasticity | |
| HP:0002497 | Spastic ataxia | |
| HP:0001337 | Tremor | |
| HP:0002317 | Unsteady gait | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Occasional (29-5%) | ||
| HP:0001265 | Hyporeflexia | |
| HP:0006858 | Impaired distal proprioception | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0001268 | Mental deterioration | |
| HP:0001270 | Motor delay | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0001328 | Specific learning disability | |
| Very rare (<4-1%) | ||
| HP:0001344 | Absent speech | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000651 | Diplopia | |
| HP:0001371 | Flexion contracture | |
| HP:0009055 | Generalized limb muscle atrophy | |
| HP:0000365 | Hearing impairment | |
| HP:0001276 | Hypertonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0007668 | Impaired pursuit initiation and maintenance | |
| HP:0001249 | Intellectual disability | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0001271 | Polyneuropathy | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0001350 | Slurred speech | |
| HP:0005340 | Spastic/hyperactive bladder | |
| HP:0002078 | Truncal ataxia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20506600[PMID]_24566671[PMID]_28431594[PMID]_30352563[PMID]_30635318[PMID]_21815884[PMID]_19592391[PMID]_16788019[PMID]_15002045[PMID]_15326244[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137898
- This record as JSON: /data/d/137898.json