TABLE 3.
Revised diagnosis | EFNS/PNS electrodiagnostic classification b | Clinical and diagnostic remarks | |
---|---|---|---|
1. | Anti‐MAG PN | Definite | Proximal muscle weakness –, anti‐MAG antibodies +, elevated CSF protein level + |
2. | Anti‐MAG PN | Definite | Proximal muscle weakness –, anti‐MAG antibodies + |
3. | CMT1A | Definite | Muscle atrophy +, pes cavus +, proximal muscle weakness –, family history –, DNA confirmation CMT1A + (PMP2 mutation) |
4. | Guillain–Barré syndrome | Definite | Progression disease course <2 months + |
5. | CMT2A | Definite | Muscle atrophy +, pes cavus+, predominantly distal muscle weakness +, family history –, DNA confirmation CMT2A + (KIF1B mutation) |
6. | Waldenström macroglobulinemia PN | Definite | Proximal muscle weakness –, IgM paraprotein +, anti‐MAG antibodies –, elevated CSF protein level + |
7. | Axonal PN | Definite c | Slowly progressive disease course +, proximal muscle weakness –, NCS supportive for CIDP –, nerve ultrasound supportive for CIDP – |
8. | ATTRv amyloidosis | Possible c | Proximal muscle weakness +, family history +, DNA confirmation + (TTRMet30 mutation), elevated CSF protein level +, nerve biopsy amyloidosis + |
9. | Entrapment neuropathy | Possible c | NCS supportive for CIDP –, MRI plexus brachialis supportive for CIDP – |
10. | Guillain–Barré syndrome | Possible | Progression disease course <2 months +, proximal muscle weakness +, elevated CSF protein level – |
11. | Axonal PN combined with myopathy | Possible c | Proximal muscle weakness +, elevated CSF protein level +, NCS supportive for CIDP – |
Abbreviations: ATTRv amyloidosis, hereditary transthyretin amyloidosis, Erasmus MC, Erasmus University Medical Centre; CIDP, chronic inflammatory demyelinating polyradiculoneuropathy; CMT, Charcot‐Marie‐Tooth; CSF, cerebrospinal fluid; EFNS/PNS, European Federation of Neurological Societies/Peripheral Nerve Society; IgM, immunoglobulin M; KIF, kinesin family member 1B gene; MAG, myelin‐associated glycoprotein; MRI, magnetic resonance imaging; NCS, nerve conduction studies; PMP, peripheral myelin protein; PN, polyneuropathy.
Overdiagnosis: patients referred with a diagnosis of CIDP that was revised to another diagnosis at the Erasmus MC.
NCS performed at the Erasmus MC.
NCS showed abnormalities that according to the EFNS/PNS criteria are considered as a demyelinating feature, but in clinical practice are attributed to other factors. For instance reduced nerve conduction velocities in nerves with severely decreased compound muscle action potential (CMAP) amplitudes can be caused by a severe axonopathy and CMAP amplitude reductions of 50% in the tibial nerve are considered normal according to published reference values [15]. +Indicates the presence of feature; – Indicates the absence of feature.