Primary progressive apraxia of speech
Synonyms: PPAOS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary progressive apraxia of speech | PPAOS |
| fr | Apraxie primaire progressive de la parole | Apraxie verbale primaire progressive · PPAOS |
| de | Sprachapraxie, primäre progressive | = en |
| es | Apraxia progresiva primaria del habla | |
| it | Aprassia verbale primitiva progressiva | = en |
| nl | Primaire progressieve spraakapraxie | = en |
| pt | Apraxia progressiva primária da fala | = en |
| pl | Pierwotna postępująca apraksja mowy | = en |
| cs | Primární progresivní apraxie řeči | PPAOS · Primární progresivní řečová apraxie |
| uk | Первинна прогресуюча апраксія мовлення | = en |
| zh | 原发性进行性言语失用 | = en |
| tr | Primer ilerleyici konuşma apraksi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0017803 | E | validated | |
| UMLS | C5848171 | 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:182070Rare neurodegenerative 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 | 16 cases | Worldwide | Case(s) | Validated | 22382356[PMID]_23078273[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/314566
- This record as JSON: /data/d/314566.json