Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

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Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Synonyms: Kyphoscoliosis-lateral tongue atrophy-HSP syndrome

A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs hyperreflexia tip-toe walking pes equinus and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability language impairment and moderate upper limb 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 Data version December 2023

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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

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 while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Clinical Trials

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