Autosomal recessive spastic paraplegia type 43

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: SPG43

Autosomal recessive spastic paraplegia type 43 is a rare complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity associated with mild to severe gait disturbances extensor plantar responses muscle weakness and severe distal atrophy frequently with upper limb involvement. Additional features may include joint contractures distal sensory loss and brisk or absent deep tendon reflexes. Other signs such as depression memory loss optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery) have also been reported.

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 July 2024

Newly diagnosed with
Autosomal recessive spastic paraplegia type 43?

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

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.

National Ataxia Foundation

Ataxia is a rare neurological disease affecting tens of thousands of people in the US and many thousands more around the world. It is progressive, affecting a person’s ability to walk, talk, and use fine motor skills. The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure

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.

Don't see your organization here. Let us know here.

Clinical Trials

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