Autosomal recessive spastic paraplegia type 35
Synonyms: SPG35
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 35 | SPG35 |
| fr | Paraplégie spastique autosomique récessive type 35 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 35 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 35 | |
| it | Paraplegia spastica autosomica recessiva, tipo 35 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 35 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 35 | = en |
| pl | Autosomalna recesywna paraplegia spastyczna typu 35 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 35 | = en |
| uk | Аутосомно-рецесивна спастична параплегія типу 35 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫35型 | = en |
| tr | Otozomal resesif spastik parapleji tip 35 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612319 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0012866 | E | validated | |
| MeSH | C567311 | E | validated | |
| UMLS | C3496228 | E | validated | |
| GARD | 10538 | 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 |
|---|---|---|---|---|---|---|---|---|
| FA2H | Disease-causing germline mutation(s) in | Assessed | HGNC:21197 | ENSG00000103089 | 611026 | 16q23.1 | fatty acid 2-hydroxylase | 20104589[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 38 cases | Worldwide | Case(s) | Validated | 24359114[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24359114[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 2018-02-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001258 | Spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0007371 | Corpus callosum atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0002359 | Frequent falls | |
| HP:0007325 | Generalized dystonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001249 | Intellectual disability | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0001268 | Mental deterioration | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0001285 | Spastic tetraparesis | |
| Occasional (29-5%) | ||
| HP:0002607 | Bowel incontinence | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0010677 | Enuresis nocturna | |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus | |
| HP:0002808 | Kyphosis | |
| HP:0000298 | Mask-like facies | |
| HP:0000467 | Neck muscle weakness | |
| HP:0011096 | Peripheral demyelination | |
| HP:0100515 | Pollakisuria | |
| HP:0006879 | Pontocerebellar atrophy | |
| HP:0005656 | Positional foot deformity | |
| HP:0001250 | Seizure | |
| HP:0000020 | Urinary incontinence | |
| Very rare (<4-1%) | ||
| HP:0000602 | Ophthalmoplegia | |
| HP:0000648 | Optic atrophy | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 18463364[PMID]_19068277[PMID]_20104589[PMID]_20853438[PMID]_22146942[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171629
- This record as JSON: /data/d/171629.json