Autosomal dominant spastic paraplegia type 6 (Q100874): Difference between revisions

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Revision as of 17:39, 16 August 2026

Autosomal dominant spastic paraplegia that usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
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    Autosomal dominant spastic paraplegia type 6
    Autosomal dominant spastic paraplegia that usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.

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      CID11:ID_434114972
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      dki-india-ID_434114972
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