Assistente RarasDescreva sintomas, busque uma doença ou conte sua história. Eu pesquiso em 10.468 doenças raras.
Raras pode cometer erros. Não substitui orientação médica profissional.
A síndrome de Perry é uma doença neurodegenerativa hereditária rara caracterizada por parkinsonismo de início precoce rapidamente progressivo, hipoventilação central, perda de peso, insônia e depressão.
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Incorporating Pelvic Floor Physical Therapy in the Treatment of Obstructed Defecation Syndrome and Posterior Compartment Pelvic Organ and Rectal Prolapse: Proceedings of the Consensus Meeting of the Pelvic Floor Consortium of the American Society of Colon and Rectal Surgeons, the International Continence Society, the International Urogynecological Association, the American Urogynecologic Society, and the American Physical Therapy Association.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
New-onset atrial fibrillation and chronic coronary syndrome in the CLARIFY registry.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.