Autosomal dominant pure hereditary spastic paraplegia due to mutations in Spastin gene (Q100868): Difference between revisions
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Forma autossômica dominante de paraplegia espástica hereditária caracterizada por espasticidade de membros inferiores, fraqueza piramidal, hiperreflexia, envolvimento hipertônico da bexiga e leve diminuição da sensibilidade vibratória nas extremidades inferiores, associada a mutação no gene SPAST1 que codifica a espastina. A idade de início varia da infância à senescência. Progressão clínica é insidiosa. Comprometimento cognitivo, demência e epilepsia têm sido reportados em algumas famílias. História familiar positiva é frequente, porém nem sempre é elicitada. O diagnóstico pode ser auxiliado por exame de neuroimagem e teste genético. | |||
| description / en | description / en | ||
An autosomal dominant form of hereditary spastic paraplegia characterised by lower limb spasticity pyramidal weakness, hyperreflexia, hypertonic bladder involvement and mild diminution of lower extremity vibration sense associated with mutations in the SPAST1 gene which encodes Spastin. The age of onset varies from childhood to senescence. Clinical progression is insidious. Cognitive impairment, dementia and epilepsy have been reported in some families. A positive family history is often, but not always elicited. The diagnosis may be aided by neuroimaging and genetic testing. | |||
Revision as of 17:38, 16 August 2026
An autosomal dominant form of hereditary spastic paraplegia characterised by lower limb spasticity pyramidal weakness, hyperreflexia, hypertonic bladder involvement and mild diminution of lower extremity vibration sense associated with mutations in the SPAST1 gene which encodes Spastin. The age of onset varies from childhood to senescence. Clinical progression is insidious. Cognitive impairment, dementia and epilepsy have been reported in some families. A positive family history is often, but not always elicited. The diagnosis may be aided by neuroimaging and genetic testing.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1328224522 |
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| English | Autosomal dominant pure hereditary spastic paraplegia due to mutations in Spastin gene |
An autosomal dominant form of hereditary spastic paraplegia characterised by lower limb spasticity pyramidal weakness, hyperreflexia, hypertonic bladder involvement and mild diminution of lower extremity vibration sense associated with mutations in the SPAST1 gene which encodes Spastin. The age of onset varies from childhood to senescence. Clinical progression is insidious. Cognitive impairment, dementia and epilepsy have been reported in some families. A positive family history is often, but not always elicited. The diagnosis may be aided by neuroimaging and genetic testing. |
