Fazio-Londe syndrome (Q85582): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A síndrome de Fazio-Londe é um transtorno hereditário caracterizado pelo início na infância de fraqueza bulbar, facial e respiratória com hiperreflexia dos membros. A síndrome de Fazio-Londe compartilha um fenótipo clínico semelhante à síndrome de Brown-Vialetto-Van Leare, exceto por não haver perda auditiva. A síndrome de Fazio-Londe é herdada de forma recessiva, resultado de mutações homozigotas ou heterozigotas compostas no gene SLC52A3. Os pacientes podem responder à terapia com riboflavina._x000D_ NOVO: A paralisia bulbar progressiva da infância (síndrome de Fazio-Londe) é caracterizada por paralisia facial bilateral progressiva com várias outras manifestações: ptose, disfagia, epilepsia, dispneia e infecções respiratórias frequentes. Pode se tornar generalizado, levando à paralisia, amiotrofia e reflexos tendinosos anormalmente exacerbados. O curso é grave em casos de insuficiência respiratória. É causada por perda neuronal nos núcleos motores dos nervos cranianos, ao nível do bulbo espinal. A degeneração das células do corno anterior da medula espinal também foi relatada. O modo de transmissão é autossômico recessivo. | |||
| description / en | description / en | ||
Fazio-Londe syndrome is an inherited disorder characterised by childhood onset of bulbar, facial and respiratory weakness with limb hyperreflexia. Fazio-Londe syndrome shares a similar clinical phenotype with Brown-Vialetto-Van Leare syndrome, except there is no hearing loss. Fazio-Londe syndrome is recessively inherited, a result of homozygous or compound heterozygous mutations in the SLC52A3 gene. Patients may respond to therapy with riboflavin. NEW: Progressive bulbar paralysis of childhood (Fazio-Londe syndrome) is characterised by progressive bilateral facial paralysis with various other manifestations: ptosis, dysphagia, dysrhythmia, dyspnoea and frequent respiratory infections. It may become generalised, leading to paralysis, amyotrophy and abnormally sharp osteotendinous reflexes. The course is severe in cases of respiratory insufficiency. It is caused by neuronal loss in the motor nuclei of the cranial nerves, at the level of the spinal bulb. Degeneration of the anterior horn cells of the spinal cord has also been reported. The mode of transmission is autosomal recessive. | |||
Revision as of 10:56, 15 August 2026
Fazio-Londe syndrome is an inherited disorder characterised by childhood onset of bulbar, facial and respiratory weakness with limb hyperreflexia. Fazio-Londe syndrome shares a similar clinical phenotype with Brown-Vialetto-Van Leare syndrome, except there is no hearing loss. Fazio-Londe syndrome is recessively inherited, a result of homozygous or compound heterozygous mutations in the SLC52A3 gene. Patients may respond to therapy with riboflavin. NEW: Progressive bulbar paralysis of childhood (Fazio-Londe syndrome) is characterised by progressive bilateral facial paralysis with various other manifestations: ptosis, dysphagia, dysrhythmia, dyspnoea and frequent respiratory infections. It may become generalised, leading to paralysis, amyotrophy and abnormally sharp osteotendinous reflexes. The course is severe in cases of respiratory insufficiency. It is caused by neuronal loss in the motor nuclei of the cranial nerves, at the level of the spinal bulb. Degeneration of the anterior horn cells of the spinal cord has also been reported. The mode of transmission is autosomal recessive.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1500390195 |
||
| English | Fazio-Londe syndrome |
Fazio-Londe syndrome is an inherited disorder characterised by childhood onset of bulbar, facial and respiratory weakness with limb hyperreflexia. Fazio-Londe syndrome shares a similar clinical phenotype with Brown-Vialetto-Van Leare syndrome, except there is no hearing loss. Fazio-Londe syndrome is recessively inherited, a result of homozygous or compound heterozygous mutations in the SLC52A3 gene. Patients may respond to therapy with riboflavin. NEW: Progressive bulbar paralysis of childhood (Fazio-Londe syndrome) is characterised by progressive bilateral facial paralysis with various other manifestations: ptosis, dysphagia, dysrhythmia, dyspnoea and frequent respiratory infections. It may become generalised, leading to paralysis, amyotrophy and abnormally sharp osteotendinous reflexes. The course is severe in cases of respiratory insufficiency. It is caused by neuronal loss in the motor nuclei of the cranial nerves, at the level of the spinal bulb. Degeneration of the anterior horn cells of the spinal cord has also been reported. The mode of transmission is autosomal recessive. |
