Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin‐related familial amyloidosis, and Pompe's disease

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Excerpt

According to the etiology, polyneuropathies (PNPs) may have a genetic cause or may be acquired. Many of the acquired PNPs are treatable, whereas genetic PNPs respond to treatment in only a few cases.1 During recent years, effective enzyme replacement therapy (ERT) has been developed for hereditary PNPs such as neuropathy in Fabry's disease (FD)2 or Pompe's disease (PD).3 For neuropathy in transthyretin‐related familial amyloidosis (TTR‐FA), TTR kinetic stabilizers have been developed, of which one is currently approved in the EU.4 This review aims at summarizing and discussing recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR‐FA, and PD.

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