Dystonia due to Leigh syndrome (Q89269): Difference between revisions
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É uma condição que ocorre entre 2 e 18 meses de idade, caracterizada por concentrações diminuídas de serotonina e catecolaminas. Os sintomas podem incluir: hipersalivação, instabilidade de temperatura, pupilas puntiformes, ptose, crises oculogíricas, hipocinesia, coreia distal, hipotonia troncular, dificuldades de deglutição, sonolência e irritabilidade. Diagnóstico é estabelecido pela descoberta de baixas concentrações de ácido homovanílico e 3-metoxi-4-hidroxifenilglicol no líquido espinhal e por testes genéticos. | |||
| description / en | description / en | ||
This is a condition presenting between 2-18 month sof age, characterized by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol and genetic testing. | |||
Revision as of 15:52, 15 August 2026
This is a condition presenting between 2-18 month sof age, characterized by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol and genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_256411659 |
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| English | Dystonia due to Leigh syndrome |
This is a condition presenting between 2-18 month sof age, characterized by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol and genetic testing. |
