Autosomal recessive spastic paraplegia type 70

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Synonyms: SPG70

Autosomal recessive spastic paraplegia type 70 is a very rare complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling walking) and is characterized by lower limb spasticity increased deep tendon reflexes extensor plantar responses impaired vibratory sensation at ankles amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances Achilles tendon contractures scoliosis and cerebellar abnormalities.

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 June 2024

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Autosomal recessive spastic paraplegia type 70?

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Advocacy Organizations

Eleanor Kaplan Foundation Inc.

The Eleanor Kaplan Foundation or TeamLeni, is a 501c3 to raise awareness, fund and establish research programs and develop curative therapeutics for SPG49 and all TECPR2 related disorders.

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

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Clinical Trials

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