For most inherited peripheral neuropathies, onset of signs and symptoms can be traced back to childhood or early adolescence. Symptoms may range from a delay in gross motor development and ambulation to subtle ankle instability, clumsiness, and impaired fine motor skills. Intellectual abilities are not affected. The neuropathy progresses insidiously, with new manifestations and disabilities in adulthood. At times, the peripheral neuropathy is an indicator of a systemic inherited metabolic disorder. In all instances, definition of the molecular genetic cause is imperative as it will allow more accurate prognostication and genetic counseling and, where possible, the introduction of up-to-date therapies. This chapter highlights peripheral neuropathic disorders that begin in childhood and outlines the clinical care and requirements of these patients as they mature into adulthood.
Relationship Disclosure: Dr Hahn has received personal compensation from Baxter and Santhera Pharmaceuticals for serving on their advisory boards and from Talecris Biotherapeutics for speaking engagements.
Unlabeled Use of Products/Investigational Use Disclosure: Dr Hahn has nothing to disclose.