O'Sullivan-McLeod syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
A rare acquired motor neuron disease characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | O'Sullivan-McLeod syndrome | |
| fr | Syndrome d'O'Sullivan-McLeod | |
| de | O'Sullivan-McLeod-Syndrom | |
| es | Síndrome de O'Sullivan-McLeod | |
| it | Sindrome di O'Sullivan-McLeod | |
| nl | Syndroom van O'Sullivan-McLeod | |
| pt | Síndrome O'Sullivan-McLeod | |
| pl | Zespół O'Sullivana i McLeoda | |
| cs | O'Sullivanův-McLeodův syndrom | O'Sullivan-McLeodův syndrom |
| uk | Синдром ОСаллівана-МакЛеода | |
| zh | 欧·沙利文-麦克劳德综合征 | |
| tr | O'Sullivan-McLeod sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G12.8 | NTBT | attributed | validated |
| MONDO | 0020559 | E | validated | |
| UMLS | C2721741 | E | validated | |
| MedDRA | 10069682 | 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:98506Acquired motor neuron disease
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 30409480[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30409480[PMID]_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
14 annotations · validated 2019-07-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003457 | EMG abnormality | |
| HP:0030237 | Hand muscle weakness | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0003484 | Upper limb muscle weakness | |
| Frequent (79-30%) | ||
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0031372 | Cold paresis | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0002380 | Fasciculations | |
| HP:0012531 | Pain | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0001880 | Increased total eosinophil count | |
| Excluded (0%) | ||
| HP:0040272 | Hyperintensity of MRI T2 signal of the spinal cord | |
| HP:0003474 | Somatic sensory dysfunction | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 17443046[PMID]_30409480[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99965
- This record as JSON: /data/d/99965.json