Progressive encephalomyelitis with rigidity and myoclonus
Synonyms: PERM
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Infancy
- Status
- active
A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive encephalomyelitis with rigidity and myoclonus | PERM |
| fr | Encéphalomyélite progressive avec rigidité et myoclonies | = en |
| de | Progressive Enzephalomyelitis mit Rigidität und Myoklonus | = en |
| es | Encefalomielitis progresiva con rigidez y mioclonías | |
| it | Encefalomielite progressiva con rigidità e mioclono | = en |
| nl | Progressieve encefalomyelitis met rigiditeit en myoclonus | = en |
| pt | Encefalomielite progressiva com rigidez e mioclonias | |
| pl | Postępujące zapalenie mózgu i opon mózgowych ze sztywnością i miokloniami | = en |
| cs | Progresivní encefalomyelitida s rigiditou a myoklonem | = en |
| uk | Прогресуючий енцефаломієліт з ригідністю та міоклонією | = en |
| zh | 进行性脑脊髓炎伴有强直及肌阵挛 | = en |
| tr | Sertlik ve miyoklonus ile seyreden ilerleyici ensefalomiyelit | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184850 | NTBT | validated | |
| ICD-10 | G04.8 | NTBT | attributed | validated |
| ICD-11 | 8D82 | NTBT | index | validated |
| MONDO | 0018581 | E | validated | |
| MeSH | C566113 | E | validated | |
| UMLS | C1861457 | E | validated | |
| GARD | 13110 | 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:3198Stiff person spectrum disorder
rare neurological diseases; rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Not yet 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/438266
- This record as JSON: /data/d/438266.json