Autosomal spastic paraplegia type 58

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Synonyms: Autosomal spastic ataxia type 2 | SPAX2 | SPG58

A rare complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia associated with gait disturbances dysarthria increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus tremor fasciculations chorea) decreased vibration sense oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.

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 May 2024

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Autosomal spastic paraplegia type 58?

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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.

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Clinical Trials

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