Distrofias Musculares Congénitas (DMC) Las distrofias musculares congénitas constituyen un grupo genéticamente heterogéneo de miopatías hereditarias caracterizadas por debilidad muscular progresiva y hallazgos distróficos en la biopsia muscular presentes desde el nacimiento o la primera infancia. Clasificación Principal Deficiencia de Merosina (LAMA2-RD): Causada por mutaciones en el gen LAMA2. Cursa con marcada hipotonía y retraso …
Category archives: Neuromuscular
M-wave, H-wave, F-wave.
Conceptos de Conducción Nerviosa: Onda M, Onda H y Onda F En el estudio de electromiografía y velocidad de conducción nerviosa, estas tres ondas representan diferentes respuestas fisiológicas ante una estimulación eléctrica: Onda M: Es la respuesta motora directa obtenida por la estimulación del axón motor. Representa la despolarización ortodrómica directa de las fibras musculares. …
Newborn screening for SMA.
https://www.iislafe.es/es/sociedad/noticias/3163/la-fe-pondra-en-marcha-un-programa-piloto-de-cribado-neonatal-para-detectar-la-atrofia-muscular-espinal
Familial spastic paraparesis.
https://www.frontiersin.org/articles/10.3389/fmolb.2021.690899/full
Patterns of neuropathic involvement.
Electromyographic Patterns of Neuropathic Affectation The electrophysiological study helps to differentiate the underlying cause of weakness by identifying whether the nerve involvement is demyelinating or axonal: Axonal Pattern: It is characterized by a marked reduction in the amplitude of motor (CMAP) and sensory (SNAP) action potentials, with normal nerve conduction velocities or only...
Weakness patterns in muscle diseases.
Dyke-Davidoff-Masson syndrome.
Transient neonatal myasthenia is a rare complication of maternal myasthenia gravis. Around 10-15% of children born to mothers with anti-acetylcholine receptor (AChR) antibodies, and less frequently anti-muscle-specific kinase (MuSK). Symptoms are usually apparent from the 3rd day of life, and in almost all cases …
Continue reading «Miastenia congénita y trastorno por inactivación de AChR fetal.»
Exon deletion tool.
This is an online calculator to determine whether a specific intragenic deletion is a candidate for exon-skipping therapy.
Acute flaccid myelitis (polio-like).
Child Muscle Weakness
On the Child Muscle Weakness website, a detection algorithm and training videos for the identification of neuromuscular symptoms in the pediatric age can be found.