Spastic paraplegia type 7
Synonyms: SPG7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, <i>pes cavus</i>, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia type 7 | SPG7 |
| fr | Paraplégie spastique type 7 | = en |
| de | Spastische Paraplegie Typ 7 | = en |
| es | Paraplejía espástica tipo 7 | = en |
| it | Paraplegia spastica tipo 7 | = en |
| nl | Spastische paraplegie type 7 | = en |
| pt | Paraplegia espástica tipo 7 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 7 | SPG7 · Paraplegia spastyczna typu 7 |
| cs | Spastická paraplegie, typ 7 | = en |
| uk | Спастична параплегія, тип 7 | = en |
| zh | 遗传痉挛性截瘫7型 | = en |
| tr | Spastik parapleji tip 7 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607259 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0011803 | E | validated | |
| MeSH | C580457 | E | validated | |
| UMLS | C3711370 | E | validated | |
| GARD | 4927 | 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 (6):
- ORPHA:183518Hereditary ataxia
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:320342Pure or complex autosomal dominant spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:320346Pure or complex autosomal recessive spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG7 | Disease-causing germline mutation(s) in | Assessed | HGNC:11237 | ENSG00000197912 | 602783 | 16q24.3 | SPG7 matrix AAA peptidase subunit, paraplegin | 17646629[PMID]_20301286[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
HPO phenotypes
30 annotations · validated 2018-02-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002064 | Spastic gait | |
| Frequent (79-30%) | ||
| HP:0008322 | Abnormal mitochondrial morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0011446 | Abnormality of higher mental function | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0003487 | Babinski sign | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001611 | Hypernasal speech | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0007164 | Slowed slurred speech | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0000605 | Supranuclear gaze palsy | |
| HP:0000012 | Urinary urgency | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0000543 | Optic disc pallor | |
| HP:0001761 | Pes cavus | |
| HP:0002650 | Scoliosis | |
| HP:0003484 | Upper limb muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0002015 | Dysphagia | |
| HP:0012514 | Lower limb pain | |
| HP:0002354 | Memory impairment | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 9634528[PMID]_9635427[PMID]_17646629[PMID]_17646629[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99013
- This record as JSON: /data/d/99013.json