MT-ATP6-related mitochondrial spastic paraplegia
Synonyms: Maternally-inherited SPG | Maternally-inherited spastic paraplegia
A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive bilateral mainly lower limb spasticity and distal weakness associated with lower limb pain hyperreflexia and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.
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
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MT-ATP6-related mitochondrial spastic paraplegia?
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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.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
National Ataxia Foundation
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.