Autosomal dominant adult-onset proximal spinal muscular atrophy

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Synonyms: Autosomal dominant adult-onset proximal SMA | Autosomal dominant late-onset spinal muscular atrophy, Finkel type | Finkel disease | SMAFK

A rare genetic motor neuron disease characterized by adulthood-onset of slowly progressive proximal muscular weakness with fasciculations amyotrophy cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement.

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 Data version July 2024

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Autosomal dominant adult-onset proximal spinal muscular atrophy?

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Advocacy Organizations

Cure SMA

Cure SMA leads the way to a world where everyone impacted by spinal muscular atrophy (SMA) is empowered to lead independent, successful, and fulfilling lives. We strive to create a community where every individual is heard and feels welcomed. Cure SMA provides practical support programs for our community and advocates for their needs. We fund and direct comprehensive research that drives breakthro

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.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

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.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.