Spinocerebellar ataxia with axonal neuropathy type 1

Get in touch with RARE Concierge.

Contact RARE Concierge

Spinocerebellar ataxia with axonal neuropathy type 1

Synonyms: SCAN1

Spinocerebellar ataxia with axonal neuropathy type 1 is a rare genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles areflexia and loss of pain vibration and touch sensations in upper and lower extremities. Gaze nystagmus cerebellar dysarthria peripheral neuropathy stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures mild brain atrophy mild hypercholesterolemia and borderline hypoalbuminemia.

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
Spinocerebellar ataxia with axonal neuropathy type 1?

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

Ducks For Dementia

Ducks For Dementia, founded on the profound compassion and vision of a young boy named David, aims to bring solace and understanding to individuals with dementia and their families. Our mission is rooted in the distribution of toy ducks as symbols of comfort, which serve not only as therapeutic aids but also as beacons of joy and companionship for those navigating the complexities of dementia.

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.

Clinical Trials

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