Autosomal dominant pure hereditary spastic paraplegia (Q84959): Difference between revisions

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Latest revision as of 10:19, 15 August 2026

A term used to describe a group of clinically and genetically heterogenous disorders which are inherited in an autosomal dominant (AD) manner and in which the neurological features are limited to lower limb spasticity and pyramidal weakness, hyperreflexia, hypertonic bladder involvement and mild diminution of lower extremity vibration sense. A positive family history is often but not always present. The diagnosis may be aided by neuroimaging and genetic testing.

Language	Label	Description	Also known as
default for all languages	ID_1049082679
English	Autosomal dominant pure hereditary spastic paraplegia	A term used to describe a group of clinically and genetically heterogenous disorders which are inherited in an autosomal dominant (AD) manner and in which the neurological features are limited to lower limb spasticity and pyramidal weakness, hyperreflexia, hypertonic bladder involvement and mild diminution of lower extremity vibration sense. A positive family history is often but not always present. The diagnosis may be aided by neuroimaging and genetic testing.