Autosomal dominant pure hereditary spastic paraplegia (Q84959): Difference between revisions
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Termo usado para descrever um grupo de transtornos clínica e geneticamente heterogêneos que são herdados de forma autossômica dominante e nos quais as manifestações neurológicas estão limitadas a espasticidade de membros inferiores, fraqueza piramidal, hiperreflexia, envolvimento hipertônico da bexiga e leve diminuição da sensibilidade vibratória nas extremidades inferiores. História familiar positiva é frequente porém nem sempre presente. O diagnóstico pode ser auxiliado por exame de neuroimagem e teste genético. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
