X-linked spastic paraplegia type 34
Synonyms: SPG34
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked spastic paraplegia type 34 | SPG34 |
| fr | Paraplégie spastique liée à l'X type 34 | = en |
| de | Spastische Paraplegie, X-chromosomale, Typ 34 | = en |
| es | Paraplejía espástica ligada al cromosoma X tipo 34 | |
| it | Paraplegia spastica legata all'X, tipo 34 | = en |
| nl | X-gebonden spastische paraplegie type 34 | = en |
| pt | Paraplegia espástica ligada ao X tipo 34 | = en |
| pl | Paraplegia spastyczna sprzężona z chromosomem X typu 34 | = en |
| cs | X-vázaná spastická paraplegie, typ 34 | = en |
| uk | Х-зчеплена спастична параплегія, тип 34 | = en |
| zh | X连锁痉挛性截瘫34型 | = en |
| tr | X'e bağlı spastik parapleji tip 34 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300750 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.02 | NTBT | index | validated |
| MONDO | 0010418 | E | validated | |
| MeSH | C567465 | E | validated | |
| UMLS | C2677897 | 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:320332X-linked pure spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG34 | Disease-causing germline mutation(s) in | Assessed | HGNC:32944 | reserved | spastic paraplegia 34 (autosomal dominant) |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 1084423[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1084423[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
8 annotations · validated 2018-05-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0003487 | Babinski sign | |
| HP:0001348 | Brisk reflexes | |
| HP:0001347 | Hyperreflexia | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0012514 | Lower limb pain | |
| HP:0002061 | Lower limb spasticity | |
| HP:0002362 | Shuffling gait | |
Annotation source: 18463901[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171607
- This record as JSON: /data/d/171607.json