Read on Twitter
An illustration of the importance of pattern recognition in Neurology. At the outset, let me reveal this is a Myopathy. Try to note how this particular one is different from others. 10 years history
As with most myopathies, limb girdle weakness is present
As with most myopathies, limb girdle weakness is present
But wait! Foot drop and prominent distal muscle weakness in a muscle disease??
And look at how strong the Quadriceps are! weak proximal and weakness with selective sparing of the quadriceps!
So this is a 10 year story. Muscle disease with distal weakness(foot drop). Sparing the quadriceps. CPK isn't all that high. This is GNE Myopathy (Nonaka Myopathy)
#NeuroTwitter #Neurology #MedEd #MedTwitter
#NeuroTwitter #Neurology #MedEd #MedTwitter
Not all myopathies are purely proximal. There is a distinct set of Distal Myopathies, GNE being one of the commoner ones seen in India
It classically spares the quadriceps muscle, mostly affects Tibialis Anterior. Inheritance is Autosomal Recessive, usually in 3rd decade of life
It classically spares the quadriceps muscle, mostly affects Tibialis Anterior. Inheritance is Autosomal Recessive, usually in 3rd decade of life
The weakness may be asymmetric as well
Muscle biopsy shows rimmed vacuoles, and the CPK may not be excessively elevated.
Muscle biopsy shows rimmed vacuoles, and the CPK may not be excessively elevated.
If you think of it. A distal myopathy, asymmetric, modest CPK elevation, rimmed vacuoles. Sounds familiar?
It's similar to Inclusion Body Myositis!
In fact, GNE was initially known as hIBM-2
Again, pattern recognition!
It's similar to Inclusion Body Myositis!
In fact, GNE was initially known as hIBM-2
Again, pattern recognition!
GNE gene encoded proteins involved in the formation of sialic acid.
There is yet another striking clinical feature of GNE/Nonaka Myopathy. I have alluded to it in an earlier post. Can you remember it?
• • •
Missing some Tweet in this thread? You can try to
force a refresh
