Autosomal recessive spastic paraplegia type 77
Synonyms: SPG77
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 77 | SPG77 |
| fr | Paraplégie spastique autosomique récessive type 77 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 77 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 77 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 77 | |
| nl | Autosomaal recessieve spastische paraplegie type 77 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 77 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 77 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 77 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 77 | = en |
| zh | 常染色体显性痉挛性截瘫77型 | = en |
| tr | Otozomal resesif spastik parapleji tip 77 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617046 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014882 | E | validated | |
| UMLS | C5569007 | 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 (3):
- 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:320346Pure or complex autosomal recessive spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FARS2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21062 | ENSG00000145982 | 611592 | 6p25.1 | phenylalanyl-tRNA synthetase 2, mitochondrial | 26553276[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 26553276[PMID]_29126765[PMID]_25851414[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29126765[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
37 annotations · validated 2018-12-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0007020 | Progressive spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001260 | Dysarthria | |
| HP:0001263 | Global developmental delay | |
| HP:0002080 | Intention tremor | |
| HP:0002505 | Loss of ambulation | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0012407 | Scissor gait | |
| HP:0001250 | Seizure | |
| HP:0010549 | Weakness due to upper motor neuron dysfunction | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0008936 | Axial hypotonia | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0002067 | Bradykinesia | |
| HP:0025488 | Detrusor sphincter dyssynergia | |
| HP:0002376 | Developmental regression | |
| HP:0001332 | Dystonia | |
| HP:0008110 | Equinovarus deformity | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001385 | Hip dysplasia | |
| HP:0005216 | Impaired mastication | |
| HP:0100785 | Insomnia | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000675 | Macrodontia of permanent maxillary central incisor | |
| HP:0003800 | Muscle abnormality related to mitochondrial dysfunction | |
| HP:0001336 | Myoclonus | |
| HP:0000011 | Neurogenic bladder | |
| HP:0002068 | Neuromuscular dysphagia | |
| HP:0002268 | Paroxysmal dystonia | |
| HP:0002421 | Poor head control | |
| HP:0000508 | Ptosis | |
| HP:0000278 | Retrognathia | |
| HP:0000486 | Strabismus | |
| HP:0002882 | Sudden episodic apnea | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26553276[PMID]_25851414[PMID]_29126765[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466722
- This record as JSON: /data/d/466722.json