Autosomal dominant spastic paraplegia type 38
Synonyms: SPG38
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, <i>pes cavus</i>, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic paraplegia type 38 | SPG38 |
| fr | Paraplégie spastique autosomique dominante type 38 | = en |
| de | Spastische Paraplegie, autosomal-dominante, Typ 38 | = en |
| es | Paraplejía espástica autosómica dominante tipo 38 | |
| it | Paraplegia spastica autosomica dominante tipo 38 | = en |
| nl | Autosomaal dominante spastische paraplegie type 38 | = en |
| pt | Paraplegia espástica autossómica dominante tipo 38 | = en |
| pl | Autosomalna dominująca paraplegia spastyczna typu 38 | = en |
| cs | Autozomálně dominantní spastická paraplegie, typ 38 | = en |
| uk | Аутосомно-домінантна спастична параплегія, тип 38 | = en |
| zh | 常染色体显性遗传痉挛性截瘫38型 | = en |
| tr | Otozomal dominant spastik parapleji tip 38 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612335 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | index | validated |
| MONDO | 0012867 | E | validated | |
| MeSH | C567349 | E | validated | |
| UMLS | C2676732 | 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:100979Autosomal dominant 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 |
|---|---|---|---|---|---|---|---|---|
| SPG38 | Disease-causing germline mutation(s) in | Assessed | HGNC:33485 | 4p16-p15 | spastic paraplegia 38 (autosomal dominant, Silver syndrome) |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 18401025[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18401025[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
25 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002314 | Degeneration of the lateral corticospinal tracts | |
| HP:0001347 | Hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001761 | Pes cavus | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0002064 | Spastic gait | |
| HP:0003393 | Thenar muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0009031 | Amyotrophy of ankle musculature | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0003457 | EMG abnormality | |
| HP:0003426 | First dorsal interossei muscle atrophy | |
| HP:0003392 | First dorsal interossei muscle weakness | |
| HP:0100561 | Spinal cord lesion | |
| HP:0003427 | Thenar muscle weakness | |
| Occasional (29-5%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0006892 | Frontotemporal cerebral atrophy | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| Excluded (0%) | ||
| HP:0012898 | Abnormal lower-limb motor evoked potentials | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0000726 | Dementia | |
| HP:0009049 | Peroneal muscle atrophy | |
| HP:0001250 | Seizure | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 18401025[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171617
- This record as JSON: /data/d/171617.json