Primary progressive freezing gait
Synonyms: PPFG
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary progressive freezing gait | PPFG |
| fr | Freezing progressif primaire de la marche | = en |
| de | Primäre fortschreitende Erstarrung der Gehbewegung | = en |
| es | Congelación progresiva y primaria de la marcha | = en |
| it | Blocco motorio primitivo progressivo della marcia | |
| nl | Primaire progressieve bevroren gang | = en |
| pt | Acinésia súbita primária progressiva | |
| pl | Pierwotne postępujące zatrzymanie chodu | = en |
| cs | Primární progresivní zamrzající chůze | = en |
| uk | Первинна прогресуюча завмираюча хода | = en |
| zh | 原发性进行性冻结步态 | = en |
| tr | Primer ilerleyici yürüme donukluğu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 8A0Y | NTBT | index | validated |
| MONDO | 0019160 | E | validated | |
| UMLS | C4275078 | 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:306666Rare parkinsonian syndrome due to neurodegenerative disease
rare neurological 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 | — | Worldwide | 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
21 annotations · validated 2018-05-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0002172 | Postural instability | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002067 | Bradykinesia | |
| HP:0002169 | Clonus | |
| HP:0001347 | Hyperreflexia | |
| HP:0000822 | Hypertension | |
| HP:0002174 | Postural tremor | |
| HP:0002063 | Rigidity | |
| Occasional (29-5%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000726 | Dementia | |
| HP:0002015 | Dysphagia | |
| HP:0002141 | Gait imbalance | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0100315 | Lewy bodies | |
| HP:0012452 | Restless legs | |
| HP:0000763 | Sensory neuropathy | |
| HP:0002362 | Shuffling gait | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 12433266[PMID]_28489770[PMID]_21135389[PMID]_16476942[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75567
- This record as JSON: /data/d/75567.json