Hereditary sensory-motor neuropathies (or CMT for Charcot-Marie-Tooth disease) are among the most frequent neuromuscular diseases of all ages, either male or female. They are clinically and genetically very heterogeneous even if they have in common a motor deficit predominant on the extremities (feet, hands), sensory disorders of varying intensity and electrophysiological disturbances (axonal or demyelinating damage). Very rarely, they are misidentified with a form of inflammatory neuropathy, by definition non-hereditary, developing chronically and called CIDP for chronic inflammatory demyelinating neuropathy. This has a very practical implications at the therapeutic level since many CIDP respond positively to immunosuppressive therapies.
In an article published in November 2020, Anglo-Saxon clinicians were interested in the border forms between CMT and CIDP in a child population. Four cases initially diagnosed with CIDP, and treated accordingly, were thus documented, both clinically and biologically, until the diagnosis was revised and formally established as a genetic disorder (in this case mutations in the PMP22, MPZ and SH3TC2 genes). Based on this experience and based on the analysis of the literature, the authors insist on the need to stay aware of the possibility of a genetic determinism when a patient present any distal motor deficit, even at subacute onset in children.
