Autosomal dominant complex hereditary spastic paraplegia (Q84971): 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. Além das manifestações neurológicas observadas nas formas "puras" de paraplegia espástica hereditária autossômica dominante, os indivíduos afetados com a forma complexa (complicada) podem exibir outras manifestações neurológicas como ataxia, neuropatia periférica, surdez, comprometimento cognitivo, epilepsia, amiotrofia e envolvimento extra-piramidal. | |||
| 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. In addition to the neurological features observed in the “pure” forms of autosomal dominant HSP, affected individuals with complex (complicated) HSP may in addition exhibit other neurological features such as ataxia, peripheral neuropathy, deafness, cognitive impairment, epilepsy, amyotrophy and extrapyramidal involvement. | |||
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. In addition to the neurological features observed in the “pure” forms of autosomal dominant HSP, affected individuals with complex (complicated) HSP may in addition exhibit other neurological features such as ataxia, peripheral neuropathy, deafness, cognitive impairment, epilepsy, amyotrophy and extrapyramidal involvement.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_873077851 |
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| English | Autosomal dominant complex 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. In addition to the neurological features observed in the “pure” forms of autosomal dominant HSP, affected individuals with complex (complicated) HSP may in addition exhibit other neurological features such as ataxia, peripheral neuropathy, deafness, cognitive impairment, epilepsy, amyotrophy and extrapyramidal involvement. |
