Disorders of Peripheral Nerves

Abstract

Peripheral neuropathies are heritable or acquired. A. Heritable defects, among others: 1. Chronic hereditary motor-sensory neuropathies (HMSN alias Charcot-Marie-Tooth), hereditary motor-sensory neuropathies (HMSN), hereditary sensory and autonomic neuropathies (HSAN), hereditary neuralgic amyotrophy (HNA) 2. Relapsing/progressive motor-sensory polyneuropathies (i.e., Refsum disease) 3. Chronic, progressive, motor-sensory polyneuropathies with early small-fiber involvement (e.g., familial amyloid polyneuropathies) 4. Painful neuropathies (e.g., Fabry disease) 5. Acute generalized polyneuropathies (porphyrias) 6. Chronic sensory neuronopathies associated with ataxias 7. Chronic sensory (and motor) neuropathies due to mitochondrial disorders 8. Recurrent focal neuropathies/plexopathies [hereditary neuropathy with liability to pressure palsies (HNPP); hereditary neuralgic amyotrophy (HNA)] Outcome and disability – Most patients with CMT1A and CMT1X do not require ambulation aids. FAP, if untreated, has a relentless fatal course. HNPP has normal life expectancy and good quality of life in most patients. Acute intermittent porphyria: the long-term prognosis depends on successful prevention of attacks. B. Acquired forms, among others: Immunomediated neuropathies: acute inflammatory polyradiculoneuropathies (AIDP), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), multifocal motor neuropathy (MMN) Outcome and disability – AIDP: 5 % of patients die. CIDP: age <45 years predicts a better outcome; axonal loss forecasts poorer prognosis. MMN: very uncommon spontaneous remissions. Anti-MAG: 25 % of patients disabled after 10 years. POEMS: chronic and invalidating; 50 % of patients are bedridden; mean survival ranges 12–165 months.