Autosomal recessive spastic paraplegia type 78
Synonyms: SPG78
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 78 | SPG78 |
| fr | Paraplégie spastique autosomique récessive type 78 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 78 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 78 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 78 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 78 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 78 | |
| pl | Autosomalna recesywna spastyczna paraplegia typu 78 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 78 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 78 | = en |
| zh | 78型常染色体隐性痉挛性截瘫 | 78型痉挛性截瘫 |
| tr | Otozomal resesif spastik parapleji tip 78 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617225 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0014975 | E | validated | |
| UMLS | C5567893 | 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 |
|---|---|---|---|---|---|---|---|---|
| ATP13A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30213 | ENSG00000159363 | 610513 | 1p36.13 | ATPase cation transporting 13A2 | 28137957[PMID]_29112700[PMID]_27217339[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 28137957[PMID]_29112700[PMID]_27217339[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29112700[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
28 annotations · validated 2018-10-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0001260 | Dysarthria | |
| HP:0003482 | EMG: axonal abnormality | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001332 | Dystonia | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000011 | Neurogenic bladder | |
| HP:0001761 | Pes cavus | |
| HP:0002478 | Progressive spastic quadriplegia | |
| HP:0003390 | Sensory axonal neuropathy | |
| HP:0000605 | Supranuclear gaze palsy | |
| Very rare (<4-1%) | ||
| HP:0000726 | Dementia | |
| HP:0000317 | Facial myokymia | |
| HP:0000738 | Hallucinations | |
| HP:0007153 | Progressive extrapyramidal movement disorder | |
| Excluded (0%) | ||
| HP:0003202 | Skeletal muscle atrophy | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 27217339[PMID]_28137957[PMID]_29112700[PMID]_29112699[PMID]_27165006[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/513436
- This record as JSON: /data/d/513436.json