Autosomal recessive spastic paraplegia type 28
Synonyms: SPG28
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 28 | SPG28 |
| fr | Paraplégie spastique autosomique récessive type 28 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 28 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 28 | = en |
| it | Paraplegia spastica autosomica recessiva, tipo 28 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 28 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 28 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 28 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 28 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 28 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫28型 | = en |
| tr | Otozomal resesif spastik parapleji tip 28 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609340 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0012256 | E | validated | |
| MeSH | C563732 | E | validated | |
| UMLS | C1836295 | E | validated | |
| GARD | 16941 | 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:100982Autosomal recessive pure spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DDHD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19714 | ENSG00000100523 | 614603 | 14q22.1 | DDHD domain containing 1 | 23176821[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 27216551[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27216551[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
13 annotations · validated 2018-05-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001347 | Hyperreflexia | |
| Frequent (79-30%) | ||
| HP:0006944 | Abolished vibration sense | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007021 | Pain insensitivity | |
| HP:0001761 | Pes cavus | |
| HP:0002172 | Postural instability | |
| HP:0002063 | Rigidity | |
| HP:0002650 | Scoliosis | |
| HP:0002064 | Spastic gait | |
| HP:0002317 | Unsteady gait | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 15786464[PMID]_23176821[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101008
- This record as JSON: /data/d/101008.json