Hereditary spastic paraplegia (Q41038): Difference between revisions
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Paraplegias espásticas hereditárias (PEH) compreendem um grupo genetica e clinicamente heterogêneo de transtornos neurodegenerativos caracterizados por graus variáveis de espasticidade de membros inferiores, fraqueza piramidal, hiperreflexia e envolvimento da bexiga hipertônica. Clinicamente, as PEH podem ser divididas em dois grupos principais: formas não complicadas (puras) e complicadas (complexas), dependendo da presença de outras manifestações neurológicas, incluindo ataxia, neuropatia periférica, comprometimento cognitivo, epilepsia, amiotrofia, retinopatia, surdez, ictiose e envolvimento extrapiramidal , além de paraparesia espástica. As PEH puras são caracterizadas por espasticidade e fraqueza lentamente progressivas em extremidades inferiores, frequentemente associadas a distúrbios urinários hipertônicos, leve redução da sensibilidade vibratória de extremidades inferiores e, ocasionalmente, da sensação de posição articular. As formas complexas de PEH são caracterizadas pela presença de manifestações neurológicas ou não neurológicas adicionais. Uma história familiar positiva, particularmente em casos autossômicos dominantes, está frequentemente presente, mas nem sempre. O diagnóstico pode ser auxiliado por neuroimagem e testes genéticos. | |||
| description / en | description / en | ||
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by varying degrees of lower limb spasticity, pyramidal weakness, hyperreflexia and hypertonic bladder involvement. Clinically, HSPs can be divided into two main groups: uncomplicated (pure) and complicated (complex) forms depending on the presence of other neurological features including ataxia, peripheral neuropathy, cognitive impairment, epilepsy, amyotrophy, retinopathy, deafness, ichthyosis and extrapyramidal involvement, in addition to spastic paraparesis. Pure HSPs are characterised by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint position sensation. Complex HSP forms are characterised by the presence of additional neurological or non-neurological features. A positive family history particularly in autosomal dominant cases is often but not always present. The diagnosis may be aided by neuroimaging and genetic testing. | |||
Revision as of 07:05, 13 August 2026
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by varying degrees of lower limb spasticity, pyramidal weakness, hyperreflexia and hypertonic bladder involvement. Clinically, HSPs can be divided into two main groups: uncomplicated (pure) and complicated (complex) forms depending on the presence of other neurological features including ataxia, peripheral neuropathy, cognitive impairment, epilepsy, amyotrophy, retinopathy, deafness, ichthyosis and extrapyramidal involvement, in addition to spastic paraparesis. Pure HSPs are characterised by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint position sensation. Complex HSP forms are characterised by the presence of additional neurological or non-neurological features. A positive family history particularly in autosomal dominant cases is often but not always present. The diagnosis may be aided by neuroimaging and genetic testing.
| Language | Label | Description | Also known as |
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| default for all languages | 8B44.0 |
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| English | Hereditary spastic paraplegia |
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by varying degrees of lower limb spasticity, pyramidal weakness, hyperreflexia and hypertonic bladder involvement. Clinically, HSPs can be divided into two main groups: uncomplicated (pure) and complicated (complex) forms depending on the presence of other neurological features including ataxia, peripheral neuropathy, cognitive impairment, epilepsy, amyotrophy, retinopathy, deafness, ichthyosis and extrapyramidal involvement, in addition to spastic paraparesis. Pure HSPs are characterised by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint position sensation. Complex HSP forms are characterised by the presence of additional neurological or non-neurological features. A positive family history particularly in autosomal dominant cases is often but not always present. The diagnosis may be aided by neuroimaging and genetic testing. |
