Infantile onset spinocerebellar ataxia (Q96316): Difference between revisions
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A ataxia espinocerebelar de início na infância (IOSCA) é uma doença neurológica hereditária com envolvimento precoce e grave dos sistemas nervosos periférico e central. IOSCA é caracterizado por ataxia muito precoce, atetose e redução dos reflexos tendinosos (entre 9 e 18 meses de idade). A oftalmoplegia e a perda auditiva neurossensorial são diagnosticadas na infância. Outras características, como atrofia óptica e neuropatia sensorial com perda progressiva de fibras mielinizadas no nervo sural, aparecem mais tarde no curso da doença. O hipogonadismo pode ocorrer em mulheres. Alguns pacientes apresentam déficit intelectual. A epilepsia é uma manifestação tardia e as convulsões podem ser fatais. | |||
| description / en | description / en | ||
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. IOSCA is characterised by very early ataxia, athetosis and reduced tendon reflexes (between 9 and 18 months of age). Ophthalmoplegia and sensorineural hearing loss are diagnosed in childhood. Other features, such as optic atrophy and sensory neuropathy with progressive loss of myelinated fibres in the sural nerve, appear later in the disease course. Hypogonadism may occur in females. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life-threatening. | |||
Revision as of 12:16, 16 August 2026
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. IOSCA is characterised by very early ataxia, athetosis and reduced tendon reflexes (between 9 and 18 months of age). Ophthalmoplegia and sensorineural hearing loss are diagnosed in childhood. Other features, such as optic atrophy and sensory neuropathy with progressive loss of myelinated fibres in the sural nerve, appear later in the disease course. Hypogonadism may occur in females. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life-threatening.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1262541689 |
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| English | Infantile onset spinocerebellar ataxia |
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. IOSCA is characterised by very early ataxia, athetosis and reduced tendon reflexes (between 9 and 18 months of age). Ophthalmoplegia and sensorineural hearing loss are diagnosed in childhood. Other features, such as optic atrophy and sensory neuropathy with progressive loss of myelinated fibres in the sural nerve, appear later in the disease course. Hypogonadism may occur in females. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life-threatening. |
