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El meu gra de sorra per una bona causa

Aquest any la Marató la correré per ajudar a recaptar fons per l´estudi del síndrome STXBP1, una enfermetat neurològica molt poc habitual. https://stxbp1.es/la-enfermedad/ M´ajudeu a recaptar fons?

Collected

540€

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500€

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19

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Discapacidad mental Salud

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Published: 16 Feb 2018

Video ¿Qué es el síndrome STXBP1?

La encefalopatía STXBP1 es una grave enfermedad neurológica debida a una mutación en el gen STXBP1. 

Es considerada una enfermedad rara pero a pesar de su baja frecuencia, estudios recientes apuntan que es una de las principales causas de 'encefalopatía epiléptica precoz'

Las alteraciones genéticas en el gen STXBP1 pueden dar lugar a diferentes formas de epilepsia de inicio durante los primeros meses de vida, incluyendo característicamente al síndrome de Ohtahara cuando se presenta en e recién nacido o e síndrome de West cuando lo hace en el lactante.

Cursa de forma constante con problemas en el neurodesarrollo, incluyendo el retraso psicomotor habitualmente moderado-grave y el trastorno del espectro autista.

Es frecuente la existencia también de trastornos del movimiento, incluyendo inestabilidad (ataxia), una función muscular anormal (distonía), movimientos involuntarios anormales (disquinesias) y un bajo tono muscular (hipotonía)

STXBP1 encephalopathy is a serious neurological disease due to a mutation of the STXBP1 gene.

It is considered a rare disease. But in spite of its low frequency, recent studies indicate that it is one of the main causes of “early epileptic encephalopathy”.

Genetic alterations in the STXBP1 gene may lead to different forms of onset epilepsy during the first months of life. Characteristically including Ohtahara syndrome, when it occurs in a newborn or West syndrome when it occurs in an infant. Sometimes the infant presents both syndromes, and even others with or without these syndromes, such as Dravet syndrome and Rett syndrome, usually in their atypical forms, can be consecutively performed.

It is constantly on the road with neurodevelopmental problems, including usually moderate-severe psychomotor developmental delay and autistic spectrum disorder. Although almost all the information available comes from patients with epilepsy, there have been reports of patients with cognitive delay / learning disorder with mutations in STXBP1 who do not suffer from epilepsy.

There are also frequently movement disorders, including unsteadiness (ataxia), abnormal muscle function (dystonia), abnormal involuntary movements (dyskinesia) and low muscle tone (hypotonia).

What is the STXBP1 syndrome?

Donators (19)

Mireia

10€

1,203 days ago

David

10€

1,203 days ago

xavier

10€

1,206 days ago

Illot2010 SCCL

50€

1,206 days ago

Anonymous

10€

1,208 days ago

Ferran

10€

1,214 days ago

alex

10€

1,214 days ago

Queralt

30€

1,215 days ago

Esther

20€

1,217 days ago

Anna

10€

1,218 days ago

Benito

20€

1,218 days ago

Gonzalo Ivan

20€

1,218 days ago

Mario

30€

1,218 days ago

Maria Del Mar

Hidden donation

1,218 days ago

LOLA

10€

1,219 days ago

Mireya

10€

1,219 days ago

Manel

10€

1,219 days ago

JORDI

100€

1,219 days ago

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Comments (11)

xavier

1,206 days ago

Per una bona causa,
Gràcies Jordi!

Anims crack!!!

Ferran

1,214 days ago

Clear Eyes!

Queralt

1,215 days ago

Gaaaaasss!!!! ☺️

Esther

1,217 days ago

Champion, como no la hagas en 3h26min te cortaremos la coleta! jajaja

Benito

1,218 days ago

Força Jordi!! Bona iniciativa

Gas, ara acaba la marato eh!!!

LOLA

1,219 days ago

Run Jordi Run ;-))

Mireya

1,219 days ago

Endavant Jordi!!! I molta sort a la cursa!!!!

Manel

1,219 days ago

Hola Jordi,

Molta sort!

Manel Escacena-Chica

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