Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disorder and encompasses a heterogeneous group of motor-sensory length-dependent polyneuropathies. Clinical phenotypes, modes of inheritance and nerve conduction study (NCS) still guide genetic testing (Rossor et al., 2016). CMT type 1 (CMT1) represents nearly 80% of all genetically confirmed cases (Fridman et al., 2015) and includes autosomal dominant or X-dominant neuropathies defined as "demyelinating" according to ulnar/median motor nerve conduction velocity (MNCV) ≤38 m/s with preserved compound motor action potentials (CMAP) (Rossor et al., 2016).

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