Видео

Okay

One sock😅😅

Entre los tres y los seis años de edad, pueden observarse indicios de una mejoría transitoria, conocida como "fase de la luna de miel", a la que sigue gradualmente un deterioro incesante, que confina al paciente a una silla de ruedas hacia los 13 años aproximadamente. La mayoría de los pacientes con DMD mueren a finales de la adolescencia En la exploración física, se destacaba un regular estado general, irritabilidad, signos de desnutrición, tiraje leve e hipoventilación en la auscultación respiratoria, distensión abdominal y hepatomegalia de 1-2 cm y neumonía en lóbulos superior derecho e inferior izquierdo en la radiografía de tórax. En las pruebas complementarias iniciales, se detectó anemia leve. Ante estos hallazgos, se planteó la posibilidad de una afectación muscular, por lo que se solicitó CK sérica, y EMG con patrón miopático, lo que confirmó el diagnóstico de miopatía. Los estudios cardiológico, oftalmológico y resonancia magnética nuclear cerebral fueron normales. Se planteó, como primera posibilidad diagnóstica, la DMD. Para confirmar el diagnóstico, se realizó la técnica de amplificación de sondas dependiente de ligandos múltiples que no detectó deleción ni duplicación en ninguno de los 79 exones del gen de la distrofina. La biopsia muscular evidenció un patrón distrófico e inmunofenotipo con ausencia completa de distrofina compatible con DMD Consideramos que se trata de una mutación “de novo”, ya que el estudio genético realizado con la misma técnica a la madre no detectó esta mutación ni ninguna otra; además, su CK era normal. No ha presentado patología respiratoria ni cardiológica relevante. A nivel nutricional, precisó suplementos dietéticos al inicio y mantuvo el peso y la talla entre percentiles 10-25; actualmente, tiene una dieta variada no suplementada. En el momento del diagnóstico, nuestro paciente aún no había desarrollado la capacidad de deambular sin ayuda. Dado que la edad de 18 meses se considera el límite máximo de la normalidad en la mayoría de las escalas de desarrollo psicomotor es probable que la DMD hubiera pasado inadvertida durante unos meses más. El fallo en el crecimiento, a pesar de no ser típico en la DMD, está descrito en algunos casos como forma de presentación Consideramos que este paciente se trata de un caso esporádico de DMD, causado por una mutación. Debido a esto, ante una elevada sospecha clínica, es recomendable la realización de una biopsia muscular para confirmar el diagnóstico si el test genético inicial es negativo.

❤😂😊

Thanks for sharing 🏴󠁧󠁢󠁳󠁣󠁴󠁿

Una distrofia, que termina en parálisis, hasta que llega al corazón. Podemos hacer mucho en el mundo para mejorar su calidad de vida.

Is the plus form available for sale yet?

This medicine available in dubai or not

BEEP!

@3:37!! WTF

Is it working only on Duchenne md, how about Emery Dreifuss??

So what happened, is there progress with Ezutromid on patients with all types of muscular dytrophy?

If A dad with 5 generations of known family members with either being a carrier or having beckers/duchene muscular dystrophy, what Percent Chance does his daughter have of being a carrier?

You know it's serious when the robot's four-line mouth frowns.

Hola..me gustaría en español por favor.. gracias!!

My young friend takes 5ml of emflaza on Friday and Saturday mornings. He has a lot of issues affecting his mental health, including a grandma that uses sugar to buy his loyalty to herself. On his emflaza days, his temper is extremely intensified. To the point of using physical violence against everyone around him. I've started to call his behavior... Roid rage.

Thank you.

When it will b available in pakistan we are waiting

Congraturations for passing trial of FDA! When do you expect that Korean Patient can access Duvyzat?

LOL, until recently I hadn't realized that Mario updated his favorite way to tackle ED and it's a relief! Although what he previously suggested was pretty good, it was a real pain to follow... I just go'ogled the latest by Mario Volpstein, it's so much simpler and potent now!

Veľmi zaujímavé

O

When will get this medicine in uae 🇦🇪

What is the moral of the session

My daughter is a manifesting patient of dmd. We all need to be part of all the treatment as well as boys because we also have same symptoms as boys do.

My daughter is a manifesting patient of dmd. We all need to be part of all the treatment as well as boys because we also have same symptoms as boys do.

Barlow's Extracts has it . I have tried their other products and they have been great so far, Im ordering some of their Epicatehin too 👍🤠🍻

Barlows Extracts has it and they seem like a very good quality business with good products...

Would this also help with Muscle antrophy too?

Is this study paper published yet?

Thank you for this informative session PPMD

Aw his little face... 🥺🤗

This is very good. Thank you all the way from India ❤

I am floored. I am also in the greater Philadelphia area, have a family history of DMD. My mom had a test done when she was pregnant with me and my male twin. At the time the test they did showed that both of us had a 95% chance of inheriting the effective gene. I shared all of this information when I went to UPenn with a genetic counselor. I was told that there was no possibility I could be affected despite my carrier status. I was diagnosed with fibromyalgia instead. I'm glad this video is here, feel very validated as a confirmed carrier that my muscle weakness is not 'just in my head'.

Ya no importa, tengo el tipo de duchenne que actúa como Becker, pero no me interesa, seguiré avanzando hasta el final, y si muero moriré sabiendo que pelee hasta el final

Please invent DMD medicine to cure DMD

Hello, are there any full-length dystrophin studies from people with girth or crisper?

Please treatment DMD ducenne muscular Dystrophy

Do Beckers patients use Agamree

No news now. Must have failed badly as a product. It happens.

Can someone older than 5 years have this treatment?

مرحبا ابني مصاب بمرض الحثل العضلي نمط دوشين ويحتاج الى مساعدة وعلاج قبل ان يتدهور الحالة

Great effort by Serapta Therapeutics and tireless effort by PPMD . Is this an option for Exon 2 Duplication

time is muscle

At $3.2m per patient, only the elite can afford such treatment!!