ORPHA:320355
Autosomal dominant spastic paraplegia type 41
Synonyms: SPG41
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 41 | SPG41 |
| fr | Paraplégie spastique autosomique dominante type 41 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 41 | = en |
| es | Paraplejía espástica autosómica dominante tipo 41 | = en |
| it | Paraplegia spastica autosomica dominante, tipo 41 | = en |
| nl | Autosomaal dominante spastische paraplegie type 41 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 41 | |
| pl | Autosomalna dominująca paraplegia spastyczna typu 41 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 41 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 41 | = en |
| zh | 常染色体显性遗传痉挛性截瘫41型 | = en |
| tr | Otozomal dominant spastik parapleji tip 41 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613364 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | attributed | validated |
| MONDO | 0013239 | E | validated | |
| UMLS | C3888208 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:100980Autosomal dominant pure spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG41 | Disease-causing germline mutation(s) in | Assessed | HGNC:34382 | 613364 | 11p14.1-p11.2 | spastic paraplegia 41 (autosomal dominant) | 18364116[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 18364116[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18364116[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.
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HPO phenotypes
14 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002314 | Degeneration of the lateral corticospinal tracts | |
| HP:0001347 | Hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0002064 | Spastic gait | |
| Frequent (79-30%) | ||
| HP:0030237 | Hand muscle weakness | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0100561 | Spinal cord lesion | |
| HP:0000012 | Urinary urgency | |
| Excluded (0%) | ||
| HP:0012898 | Abnormal lower-limb motor evoked potentials | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0003457 | EMG abnormality | |
| HP:0001250 | Seizure | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 18364116[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320355
- This record as JSON: /data/d/320355.json