Ultrasound pattern sum score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies

Inherited neuropathies generally present with distally accentuated paresis of the legs with predominance of the peroneal muscles, osseous anomalies (e.g. pes cavus, scoliosis), sensory deficits, missing or weak deep tendon reflexes. Positive family history encourages the diagnosis (Patzko et al., 2012). It may be confirmed by nerve conduction studies (NCS, e.g. axonal or demyelinating predominance). Finally, molecular analysis corroborates the diagnosis, e.g. by finding PMP 22 pathology. The autosomal-dominant Charcot-Marie-Tooth (CMT) 1a type (PMP22 duplication) is the most frequent demyelinating type, while CMT1b (MPZ mutation) is rarer.

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