{"orpha":75567,"name":"Primary progressive freezing gait","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PPFG"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75567/","orphanet_url":"https://www.orpha.net/en/disease/detail/75567","names":{"fr":{"name":"Freezing progressif primaire de la marche","synonyms":["PPFG"],"definition":"Une maladie neurodégénérative rare, hétérogène, progressivement invalidante caractérisée par un freezing de la marche (survenant habituellement au cours des trois premières années de vie), associé par la suite par une instabilité posturale, et conduisant finalement à la nécessité d'utiliser un fauteuil roulant. Les autres signes peuvent inclure une légère bradykinésie, une rigidité, un tremblement postural, une hyperréflexie, un trouble de la parole et une démence. La maladie ne répond pas aux traitements dopaminergiques."},"de":{"name":"Primäre fortschreitende Erstarrung der Gehbewegung","synonyms":["PPFG"],"definition":"Eine seltene, heterogene, fortschreitend beeinträchtigende neurodegenerative Erkrankung, die durch das unvorhersehbare 'Einfrieren' (Freezing) von Bewegungen bzw. Bewegungsabläufen gekennzeichnet ist (meist in den ersten 3 Jahren). Sie ist assoziiert mit später einsetzender posturaler Instabilität und führt schließlich zu einem Zustand, der die Patienten an den Rollstuhl bindet. Weitere Merkmale können leichte Bradykinesie, Rigidität, posturaler Tremor, Hyperreflexie, Sprachstörungen und Demenz sein. Die Krankheit spricht auf dopaminerge Behandlungen nicht an."},"es":{"name":"Congelación progresiva y primaria de la marcha","synonyms":["PPFG"],"definition":"La congelación progresiva y primaria de la marcha, es una enfermedad neurodegenerativa poco frecuente, heterogénea y progresivamente incapacitante, caracterizada por la congelación de la marcha (generalmente durante los 3 primeros años), asociándose posteriormente a inestabilidad postural, que en última instancia obliga al uso de silla de ruedas. Otras características pueden incluir leve bradicinesia, rigidez, temblor postural, hiperreflexia, trastorno del habla y demencia. La enfermedad no responde al tratamiento dopaminérgico."},"it":{"name":"Blocco motorio primitivo progressivo della marcia","definition":"Il blocco motorio primitivo progressivo della marcia (letteralmente congelamento dell'andatura) è una malattia neurodegenerativa rara eterogenea e progressivamente invalidante, caratterizzata da un blocco della marcia (che di solito insorge nei primi tre anni di vita), che successivamente si associa ad instabilità posturale e può costringere i pazienti alla sedia a rotelle. Altri segni clinici sono la lieve bradicinesia, la rigidità, il tremore posturale, l'iperreflessia, i disturbi del linguaggio e la demenza. La malattia non risponde ai trattamenti dopaminergici."},"nl":{"name":"Primaire progressieve bevroren gang","synonyms":["PPFG"],"definition":"Primaire progressieve bevroren gang is een zeldzame, heterogene, progressief invaliderende neurodegeneratieve ziekte die gekarakteriseerd wordt door het bevriezen van de gang (plots blokkeren van de benen) (meestal tijdens de eerste 3 jaar), met later associatie met posturale instabiliteit, en op termijn afhankelijkheid van een rolstoel als resultaat. Andere mogelijke kenmerken zijn onder meer milde bradykinesie, rigiditeit, posturale tremor, hyperreflexie, spraakstoornis en dementie. De ziekte reageert niet op dopaminerge behandelingen."},"pt":{"name":"Acinésia súbita primária progressiva"},"pl":{"name":"Pierwotne postępujące zatrzymanie chodu","synonyms":["PPFG"]},"cs":{"name":"Primární progresivní zamrzající chůze","synonyms":["PPFG"]},"uk":{"name":"Первинна прогресуюча завмираюча хода","synonyms":["PPFG"],"definition":"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."},"zh":{"name":"原发性进行性冻结步态","synonyms":["PPFG"]},"tr":{"name":"Primer ilerleyici yürüme donukluğu","synonyms":["PPFG"]}},"xrefs":[{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"431694225"},{"source":"MONDO","code":"0019160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275078","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-07","source":"12433266[PMID]_28489770[PMID]_21135389[PMID]_16476942[PMID]","terms":[{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100315","label":"Lewy bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012452","label":"Restless legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}