Autosomal recessive spastic paraplegia type 30 (Q99407): Difference between revisions
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Paraplegia espástica autossômica recessiva caracterizada ou por um fenótipo de paraplegia espástica pura, geralmente apresentando-se na primeira ou segunda década de vida, com membros inferiores espásticos, marcha espástica instável, hiperreflexia e respostas extensoras plantares, ou por um fenótipo complicado com manifestações adicionais de consumpção distal, movimentos oculares sacádicos, ataxia cerebelar leve e neuropatia axonal distal leve. | |||
| description / en | description / en | ||
Autosomal recessive spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. | |||
Revision as of 16:04, 16 August 2026
Autosomal recessive spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1110461645 |
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| English | Autosomal recessive spastic paraplegia type 30 |
Autosomal recessive spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. |
