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.
@brandensalinas1569Ай бұрын
❤😂😊
@danamackay5872Ай бұрын
Thanks for sharing 🏴
@valentinadelcarmenparedesc4035Ай бұрын
Una distrofia, que termina en parálisis, hasta que llega al corazón. Podemos hacer mucho en el mundo para mejorar su calidad de vida.
@IncreasedAngerPillАй бұрын
Is the plus form available for sale yet?
@iqqueenqueen52942 ай бұрын
This medicine available in dubai or not
@user-ir3hr2sk2r2 ай бұрын
BEEP!
@Joe-xj2tb2 ай бұрын
@3:37!! WTF
@DJURBANBG2 ай бұрын
Is it working only on Duchenne md, how about Emery Dreifuss??
@DJURBANBG2 ай бұрын
So what happened, is there progress with Ezutromid on patients with all types of muscular dytrophy?
@Defx72 ай бұрын
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?
@AlexanTheMan2 ай бұрын
You know it's serious when the robot's four-line mouth frowns.
@PatriciaBasurto-el1ly3 ай бұрын
Hola..me gustaría en español por favor.. gracias!!
@kentneumann52093 ай бұрын
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.
@kentneumann52093 ай бұрын
Thank you.
@Moeez10343 ай бұрын
When it will b available in pakistan we are waiting
@user-lp8jx8bf6i3 ай бұрын
Congraturations for passing trial of FDA! When do you expect that Korean Patient can access Duvyzat?
@LukaD-po8nm3 ай бұрын
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!
@karolinarepova57383 ай бұрын
Veľmi zaujímavé
@Deiman104 ай бұрын
O
@vijayalakshmisaravanan78164 ай бұрын
When will get this medicine in uae 🇦🇪
@rameshkannarameshkanna75225 ай бұрын
What is the moral of the session
@user-ei3wv4ug5k5 ай бұрын
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.
@user-ei3wv4ug5k5 ай бұрын
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.
@mr.lovell36455 ай бұрын
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 👍🤠🍻
@mr.lovell36455 ай бұрын
Barlows Extracts has it and they seem like a very good quality business with good products...
@mr.lovell36455 ай бұрын
Would this also help with Muscle antrophy too?
@hakeemkidd2286 ай бұрын
Is this study paper published yet?
@ramaboddanapalli95626 ай бұрын
Thank you for this informative session PPMD
@Juliet047386 ай бұрын
Aw his little face... 🥺🤗
@therightgame37 ай бұрын
This is very good. Thank you all the way from India ❤
@IvyGrass7 ай бұрын
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'.
@ParentProjectMD7 ай бұрын
Emily, please feel free to reach out to our team if we can help talk through any topics or answer any questions you may have: www.parentprojectmd.org/care/for-families/ppmd-for-you-schedule-a-one-to-one-meeting/
@IvyGrass6 ай бұрын
@@ParentProjectMD Much appreciated! I certainly will!
@marioandreslopez91537 ай бұрын
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
@monicazendejas99743 ай бұрын
@marioandreslopez9153 a lo que sé Duchenne es más grave no? Ya que avanza demasiado rápido en cambio Becker es mucho más lento, no?
@marioandreslopez91533 ай бұрын
@@monicazendejas9974 si, pero becker se puede detener ahí, duchenne puede seguir avanzando
@monicazendejas99743 ай бұрын
@@marioandreslopez9153 Así es!!! Pero en tu comentario se nota que eres super fuerte y vas a lograr estar bien!!! 🤞
@rameshkannarameshkanna75227 ай бұрын
Please invent DMD medicine to cure DMD
@ilyasguler58527 ай бұрын
Hello, are there any full-length dystrophin studies from people with girth or crisper?
@rameshkannarameshkanna75228 ай бұрын
Please treatment DMD ducenne muscular Dystrophy
@dustyleatherandlace88288 ай бұрын
Do Beckers patients use Agamree
@mreudeco8 ай бұрын
No news now. Must have failed badly as a product. It happens.
@abdosaad67488 ай бұрын
Can someone older than 5 years have this treatment?
@user-ok6br6wx2m8 ай бұрын
مرحبا ابني مصاب بمرض الحثل العضلي نمط دوشين ويحتاج الى مساعدة وعلاج قبل ان يتدهور الحالة
@vitul1305808 ай бұрын
Great effort by Serapta Therapeutics and tireless effort by PPMD . Is this an option for Exon 2 Duplication
@alan736388 ай бұрын
time is muscle
@Apolac8 ай бұрын
At $3.2m per patient, only the elite can afford such treatment!!