Autosomal recessive pure hereditary spastic paraplegia due to mutations in Spatacsin gene (Q99410): Difference between revisions
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Forma autossômica recessiva de paraplegia espástica hereditária caracterizada por espasticidade de membros inferiores, fraqueza piramidal, hiperreflexia, envolvimento hipertônico da bexiga e diminuição de sensibilidade vibratória nas extremidades inferiores associado a mutações no SPG11 que codifica a espatacsina. Outras manifestações clínicas comuns incluem dificuldade de aprendizagem, comprometmento cognitivo, neuropatia periférica e sinais pseudo-bulbares. Manifestações menos comuns incluem disfunção cerebelar, degeneração retiniana e parkinsonismo. Inicio usualmente ocorre entre a infância e adolescência. Exame de imagem do cérebro pode demonstrar afilamento do corpo caloso e atrofia cortical. O diagnóstico pode ser auxiliado por teste genético. | |||||||||||||||
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An autosomal recessive 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 SPG11 which encodes Spatacsin. Other common clinical features include learning difficulties and cognitive impairment, peripheral neuropathy and pseudobulbar signs. Less common features include cerebellar dysfunction, retinal degeneration and parkinsonism. Onset is usually between infancy and adolescence. Brain imaging may demonstrate thinning of the corpus callosum and cortical atrophy. The diagnosis may be aided by genetic testing. | |||||||||||||||
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CID11:ID_1251066988 | |||||||||||||||
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15 August 2026
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Latest revision as of 16:04, 16 August 2026
An autosomal recessive 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 SPG11 which encodes Spatacsin. Other common clinical features include learning difficulties and cognitive impairment, peripheral neuropathy and pseudobulbar signs. Less common features include cerebellar dysfunction, retinal degeneration and parkinsonism. Onset is usually between infancy and adolescence. Brain imaging may demonstrate thinning of the corpus callosum and cortical atrophy. The diagnosis may be aided by genetic testing.
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| default for all languages | ID_1251066988 |
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| English | Autosomal recessive pure hereditary spastic paraplegia due to mutations in Spatacsin gene |
An autosomal recessive 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 SPG11 which encodes Spatacsin. Other common clinical features include learning difficulties and cognitive impairment, peripheral neuropathy and pseudobulbar signs. Less common features include cerebellar dysfunction, retinal degeneration and parkinsonism. Onset is usually between infancy and adolescence. Brain imaging may demonstrate thinning of the corpus callosum and cortical atrophy. The diagnosis may be aided by genetic testing. |
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CID11:ID_1251066988
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dki-india-ID_1251066988
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Concluído
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15 August 2026
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