Autosomal recessive spastic paraplegia type 78

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Autosomal recessive spastic paraplegia type 78

Synonyms: SPG78

A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs axonal motor and sensory neuropathy and cerebellar symptoms like ataxia dysarthria and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.

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 March 2024

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Autosomal recessive spastic paraplegia type 78?

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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.

Clinical Trials

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