Autosomal recessive spastic paraplegia type 21
Synonyms: Mast syndrome · SPG21
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 21 | Mast syndrome · SPG21 |
| fr | Paraplégie spastique autosomique récessive type 21 | SPG21 · Syndrome de Mast |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 21 | SPG21 · Mast-Syndrom |
| es | Paraplejía espástica autosómica recesiva tipo 21 | SPG21 · Síndrome de Mast |
| it | Paraplegia spastica autosomica recessiva, tipo 21 | SPG21 · Sindrome di Mast |
| nl | Autosomaal recessieve spastische paraplegie type 21 | SPG21 · Syndroom van Mast |
| pt | Paraplegia espástica autossómica recessiva tipo 21 | SPG21 · Síndrome Mast |
| pl | Autosomalna recesywna paraplegia spastyczna typu 21 | SPG21 · Zespół Mast |
| cs | Autozomálně recesivní spastická paraplegie, typ 21 | SPG21 · Syndrom žírných buněk |
| uk | Аутосомно-рецесивна спастична параплегія, тип 21 | Мастопатія · SPG21 |
| zh | 常染色体隐性遗传痉挛性截瘫21型 | Mast综合征 |
| tr | Otozomal resesif spastik parapleji tip 21 | SPG21 · Mast sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248900 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0009568 | E | validated | |
| MeSH | C565409 | E | validated | |
| UMLS | C1855346 | E | validated | |
| GARD | 16939 | 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:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG21 | Disease-causing germline mutation(s) in | Assessed | HGNC:20373 | ENSG00000090487 | 608181 | 15q22.31 | SPG21 abhydrolase domain containing, maspardin |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 6024251[PMID]_6024251[PMID]_14564668[PMID]_24451228[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6024251[PMID]_14564668[PMID]_24451228[PMID] |
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
19 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0000726 | Dementia | |
| HP:0001288 | Gait disturbance | |
| Frequent (79-30%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0002186 | Apraxia | |
| HP:0010526 | Dysgraphia | |
| HP:0002015 | Dysphagia | |
| HP:0006892 | Frontotemporal cerebral atrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0001268 | Mental deterioration | |
| HP:0012075 | Personality disorder | |
| HP:0002476 | Primitive reflex | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 14564668[PMID]_24451228[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101001
- This record as JSON: /data/d/101001.json