Discover and read the best of Twitter Threads about #FSHD
Most recents (3)
Solving the Case of the Vanishing Leg:
“My right leg is disappearing.”
➡️ 48 years old
➡️ Whole right lower limb weakness, atrophy
➡️ Progressive
➡️ Painless
What’s going on? 🧵1/8
“My right leg is disappearing.”
➡️ 48 years old
➡️ Whole right lower limb weakness, atrophy
➡️ Progressive
➡️ Painless
What’s going on? 🧵1/8
As always, start with the patient (before the data). Where does this localize?
Weakness and atrophy often localize to nerve (motor neuron especially when no sensory symptoms)
➡️ BUT, some asymmetric myopathies can present similarly
Simple rubric to localize weakness: 2/8
Weakness and atrophy often localize to nerve (motor neuron especially when no sensory symptoms)
➡️ BUT, some asymmetric myopathies can present similarly
Simple rubric to localize weakness: 2/8
Imaging was performed with a concern for multiple radiculopathies.
MRI showed no structural root lesions. But is it normal? 3/8
MRI showed no structural root lesions. But is it normal? 3/8
Hoy es el día internacional de Distrofia Muscular Facioescapulohumeral #FSHD , una de tantas “enfermedades raras” que se estima afectan a 1 de cada 20.000 personas alrededor del mundo. Si no has escuchado sobre esta enfermedad, yo te cuento un poco desde mi experiencia.
La #FSHD es una enfermedad neuromuscular (NMD) genética y hereditaria que causa debilidad muscular progresiva. Esta enfermedad está agrupada dentro de las distrofias musculares, siendo la más prevalente del grupo.
#FSHD describe los principales grupos musculares que se ven afectados por la debilidad muscular que la enfermedad produce. Tiene efectos sobre los músculos de la cara (“F” de facial), dificultando cerrar completamente los párpados, y poca capacidad de arrugar la frente.
On the eve of world FSHD day (June 20), lets look at Facioscapulohumeral dystrophy / THREAD (1/60) #WorldFSHDDay #FSHD #neuromuscular #dystrophy
FSHD is one of the MC muscular dystrophies (third MC after DMD and myotonic dystrophy overall and second MC in adults). Still, it’s a rare disease, but if you are seeing neuromuscular patients, you are likely to see FSHD very often pubmed.ncbi.nlm.nih.gov/25122204/
Name is derived from the pattern of muscle involvement➡️ facial, the muscles around the scapula and those overlying humerus. But it also involves trunk and leg muscles. (3/50)
