Familial dyskinesia and facial myokymia
Synonyms: FDFM
Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder with childhood or adolescent onset characterized by paroxysmal choreiform dystonic and myoclonic movements involving the limbs (mostly distal upper limbs) neck and/or face which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones perioral and periorbital dyskinesias dysarthria hypotonia and weakness.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Familial dyskinesia and facial myokymia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
ADCY5.org
ADCY5.org is dedicated to those living with Adenylyl cyclase 5 (ADCY5)‐related movement disorder (ADCY5‐RMD), by supporting affected families, clinicians providing care, and researchers studying ADCY5.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.