Primary lateral sclerosis
Synonyms: Adult-onset PLS · Adult-onset primary lateral sclerosis · PLS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary lateral sclerosis | Adult-onset PLS · Adult-onset primary lateral sclerosis · PLS |
| fr | Sclérose latérale primitive | PLS · PLS de l'adulte · SLP · SLP de l'adulte · Sclérose latérale primitive de l'adulte |
| de | Lateralsklerose, primäre | |
| es | Esclerosis lateral primaria | ELP · ELP de inicio en el adulto · Esclerosis lateral primaria de inicio en el adulto · PLS |
| it | Sclerosi laterale primitiva | PLS · PLS a esordio nell'età adulta · Sclerosi laterale primitiva a esordio nell'età adulta |
| nl | Primaire laterale sclerose | PLS · PLS met aanvang op volwassen leeftijd · Primaire laterale sclerose met aanvang op volwassen leeftijd |
| pt | Esclerose lateral primária | |
| pl | Pierwotne stwardnienie boczne | Pierwotne stwardnienie boczne o początku w wieku dorosłym · plS · plS o początku w wieku dorosłym |
| cs | Primární laterální skleróza | PLS · PLS s nástupem v dospělosti · Primární laterální skleróza s nástupem v dospělosti |
| uk | Первинний бічний склероз | PLS, що починається у дорослих · Первинний бічний склероз у дорослих · PLS |
| zh | 原发性侧索硬化症 | 成人发病型原发性侧索硬化 |
| tr | Primer lateral skleroz | PLS · Erişkin başlangıçlı PLS · Erişkinlik başlangıçlı primer lateral skleroz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611637 | E | validated | |
| ICD-10 | G12.2 | NTBT | inclusion | validated |
| ICD-11 | 8B60.4 | E | specific | validated |
| MONDO | 0018155 | E | validated | |
| MONDO | 18155 | E | validated | |
| UMLS | C0154682 | E | validated | |
| GARD | 10684 | E | validated | |
| MedDRA | 10036704 | 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 (3):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:98503Motor neuron disease
rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPG7 | Disease-causing germline mutation(s) in | Assessed | HGNC:11237 | ENSG00000197912 | 602783 | 16q24.3 | SPG7 matrix AAA peptidase subunit, paraplegin | 27123479[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Europe | Value and class | Validated | ORPHANET |
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
26 annotations · validated 2025-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002127 | Abnormal upper motor neuron morphology | |
| HP:0003487 | Babinski sign | |
| HP:0007034 | Generalized hyperreflexia | |
| HP:0001257 | Spasticity | |
| HP:0002493 | Upper motor neuron dysfunction | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0002015 | Dysphagia | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0002141 | Gait imbalance | |
| HP:0031993 | Hoffmann sign | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0002311 | Incoordination | |
| HP:0002371 | Loss of speech | |
| HP:0007199 | Progressive spastic paraparesis | |
| HP:0002200 | Pseudobulbar signs | |
| HP:0002464 | Spastic dysarthria | |
| HP:0002064 | Spastic gait | |
| HP:0000012 | Urinary urgency | |
| HP:0010549 | Weakness due to upper motor neuron dysfunction | |
| Occasional (29-5%) | ||
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0010873 | Cervical spinal cord atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0001611 | Hypernasal speech | |
| HP:0007002 | Motor axonal neuropathy | |
| Excluded (0%) | ||
| HP:0002366 | Abnormal lower motor neuron morphology | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0003474 | Somatic sensory dysfunction | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 39536141[PMID]_40388677[PMID]_25008395[PMID]_17404201[PMID]_1606479[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35689
- This record as JSON: /data/d/35689.json