Synonyms: Parkinsonism with alveolar hypoventilation and mental depression
A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism central hypoventilation weight loss insomnia and depression.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
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The Assistance Fund
The Assistance Fund (TAF) is an independent charitable patient assistance organization that helps patients and families facing high medical out-of-pocket costs by providing financial assistance for their copayments, coinsurance, deductibles, and other health-related expenses. We currently manage more than 80 disease programs, each of which covers all FDA-approved treatment for the disease named in the program. Since 2009, TAF has helped nearly 180,000 people access critical treatment for life-threatening, chronic, and rare diseases.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.