Autosomal recessive spastic paraplegia type 76
Synonyms: SPG76
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 76 | SPG76 |
| fr | Paraplégie spastique autosomique récessive type 76 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 76 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 76 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 76 | |
| nl | Autosomaal recessieve spastische paraplegie type 76 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 76 | |
| pl | Autosomalna recesywna spastyczna paraplegia typu 76 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 76 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 76 | = en |
| zh | 常染色体隐性痉挛性截瘫76型 | 痉挛性截瘫76型 |
| tr | Otozomal resesif spastik parapleji tip 76 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616907 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0014827 | E | validated | |
| UMLS | C5567483 | 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 |
|---|---|---|---|---|---|---|---|---|
| CAPN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1476 | ENSG00000014216 | 114220 | 11q13.1 | calpain 1 | 201727153400[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 27153400[PMID]_27320912[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27153400[PMID]_27320912[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
17 annotations · validated 2018-05-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0011448 | Ankle clonus | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0002070 | Limb ataxia | |
| HP:0008081 | Pes valgus | |
| HP:0002650 | Scoliosis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27153400[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488594
- This record as JSON: /data/d/488594.json