Neurología SANTA CRUZ

06/06/2025

RYR-1-Related Disorders (RYR-1-RD) are rare, inherited muscle conditions caused by changes in the RYR1 gene, affecting 1 in 90,000 people in the U.S. When the RYR1 protein doesn’t work properly, it can lead to muscle weakness, fatigue, and even dangerous reactions to anesthesia, known as malignant hyperthermia. RYR-1-RD is the most common form of congenital myopathy, but many families still don’t know about it.

Our latest Simply Stated blog breaks down:
🔹 What causes RYR-1-RD
🔹 Common symptoms and risks
🔹 New research and treatments
🔹 Support for patients and families

Read more now: https://mdaquest.org/simply-stated-updates-in-ryanodine-receptor-1-related-disorders-ryr-1-rd/

05/06/2025

03/03/2025

Introduction/Aims Risdiplam was the first orally administered drug approved to treat spinal muscular atrophy (SMA). Efficacy in adults is based on short-term observational studies. This longitudinal...

18/01/2025

La característica en común en la Distrofia Muscular de Cinturas es la debilidad y atrofia de los músculos de la cintura escapular.🧬

Cada uno de los subtipos diferentes de LGMD se caracterizan además por síntomas adicionales con diferentes edades de inicio y gravedad.🩺⏳

11/11/2024

09/11/2024

En la LGMD los músculos se debilitan gradualmente debido a la atrofia y/o pérdida de fibras musculares.

Si bien afectan principalmente a los músculos de las extremidades y el tronco (músculos del movimiento), algunas formas de la enfermedad pueden debilitar los músculos respiratorios y el corazón, provocando dificultades respiratorias y/o problemas cardiacos.

29/06/2024

Validation of the 2023 International Diagnostic Criteria for MOGAD in a Selected Cohort of Adults and Children: https://bit.ly/3VzeE2U

22/06/2024

22/06/2024

June 21st is Global ALS/MND Awareness Day, which was chosen as it is a solstice, a turning point. A day where we join with the global ALSMND community in raising awareness and share the hope that this day will be a turning point in ALS/MND care, treatment and cure.

20/06/2024

Scientists are still trying to find out what causes autoimmune neuromuscular diseases, but breakthroughs are leading to more treatment options than ever.

20/06/2024

GenBank release 261.0 (6/18/2024) is now available on the NCBI FTP site. This release has 32.04 trillion bases and 4.51 billion records. The current release has: 251,094,334 traditional records containing 3,387,240,663,231 base pairs of sequence data 3,380,877,515 WGS records containing 27,900,199,3...

03/05/2024

Drugs that exacerbate myasthenia gravis

1. antibiotics
A. ; May worsen MG, use cautiously if no alternative.
B. ; Associated with worsening MG; use cautiously, if at all.
C. (e.g., , , ); May worsen MG; use cautiously, if at ll.
D. ; Causes severe, often fatal exacerbation of MG. Do not use.

cardiovascular medications

2. Beta-blockers; Potentially dangerous, may worsen MG. Use cautiously. Even ophthalmic formulations can be problematic.
(and probably other Class-Ia antiarrhythmics); May worsen MG; use with caution.

3. Statins; May worsen or precipitate MG. Evaluate closely for worsening MG when statin therapy initiated.

miscellaneous

4. Intravenous ; Use only if absolutely necessary and observe for worsening. Safety might be improved by infusing magnesium very slowly, to avoid transient elevations in serum magnesium levels.

5. Corticosteroids; Standard for myasthenia, but may cause transient worsening during the first two weeks.

6. Iodinated radiocontrast dye; Modern agents appear safer than prior agents. Use cautiously and observe for worsening.

7. Checkpoint inhibitors; Can precipitate or worsen MG.
and ; may precipitate or worsen myasthenia, use only if necessary and observe for worsening.

8. Botulinum toxin; Avoid use.
9. ; May worsen myasthenia.

10. D-penicillamine; Strongly associated with causing myasthenia, avoid use.

11. Quinine; , except in some cases of malaria.

12. ; May be ineffective in causing paralysis.

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