Synonyms: BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures | SMALED2
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 September 2024
Newly diagnosed with
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy?
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Advocacy Organizations
Friends of Be an Angel
To support Ukrainian refugees and rescue efforts. We provide humanitarian aid, medical evacuations and mental health education programs for the Ukrainian people suffering from the full-scale invasion. Join us to provide a future for those most vulnerable.
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
SMA Philippines Organization Inc.
Driven by the belief that no one gets left behind, we are dedicated to enhancing the lives of individuals affected with spinal muscular atrophy (SMA) through advocacy, education, and support. Our goal is to raise awareness, improve access to essential care and resources, advocate for equitable treatment opportunities, and champion the rights of individuals with SMA.
SPEAK Trust
SPEAK Trust is a non profit organization committed to address public health inequities, gender based violence, human rights through mass awareness, service delivery, capacity- building initiatives, research and advocacy.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.