Autosomal dominant adult-onset proximal spinal muscular atrophy

Get in touch with RARE Concierge.

Contact RARE Concierge

Autosomal dominant adult-onset proximal spinal muscular atrophy

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 http: //www.orphadata.org. Data version September 2023.

Newly diagnosed with
Autosomal dominant adult-onset proximal spinal muscular atrophy?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Fighting for Kaiden Foundation

The Fighting for Kaiden Foundation is a non-profit organization committed to enhancing the lives of those struggling with Spinal Muscular Atrophy (SMA) on multiple fronts. Directly, we strive to raise awareness of the disease on the local, regional and national levels. Our foundation provides need-based financial support to affected families for equipment and travel. We understand the value of peer support and organize support groups and information for SMA affected families in our area. We provide directed donations for medical research in addition to medical equipment and services for SMA patients across the country. Our goals are driven by our devotion to improving the lives and finding a cure for those with SMA.

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.

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Clinical Trials

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