![]() OSMOSIS.ORG 677ĭIAGNOSIS OTHER DIAGNOSTICS ▪ NCS, EMG ▫ ↓ nerve conduction velocity ▪ History, physical examination (e.g. There is wasting of the plantar muscles and prominent pes cavus as well as a hammer irregularity of the great toe. respiratory/hemodynamic support) ▪ Pain management ▫ Acetaminophen, nonsteroidal antiinflammatory drugs (NSAIDs), gabapentin, carbamazepineĬhapter 87 PNS Demyelinating Disorders CHARCOT–MARIE–TOOTH DISEASE /Charcot-Marie-Tooth PATHOLOGY & CAUSES ▪ Group of hereditary, progressive neurological disorders disruption of PNS processes, impaired sensory/motor function ▪ Genetic mutations → defective structure, function of proteins in myelin sheath/ neuron’s axon ▪ Classification: Types I-VII Type X (X-linked) ▫ Subtypes based on associated genes and phenotypes TYPES SIGNS & SYMPTOMS ▪ Onset in first to third decade of life, depending on type ▪ Progressive distal muscle weakness atrophy of hands, feet ▪ Distal sensory loss, paresthesias, loss of proprioception ▪ ↓ deep tendon reflexes, areflexia ▪ Foot irregularities ▫ Foot drop, high arches (pes cavus), hammer toes, flail foot, cavovarus foot ▪ Unsteady gait, toe-walking Charcot–Marie–Tooth I (CMT1) ▪ Demyelinating form ▫ Caused by mutations in PMP22, MPZ genes (encode for myelin sheath proteins) → ↓ nerve conduction velocity ▫ Autosomal dominant/sporadic inheritance CMT2 ▪ Axonal form ▫ Caused by mutations in MFN2 gene (encodes for mitofusin-2 protein in neuronal mitochondria) → neuronal death ▫ Autosomal dominant/recessive inheritance RISK FACTORS ▪ Inheritance of defective gene(s) COMPLICATIONS ▪ Muscle atrophy, loss of ambulation deafness, intellectual disability, optic neuropathy, feeding difficulties, hip dysplasia Figure 87.1 An MRI scan of the foot of an individual with Charcot-Marie-Tooth disease. infection) → aberrant autoimmune response → myelin sheath destruction COMPLICATIONS Charcot–Marie–Tooth disease ▪ Muscle atrophy, impaired ambulation, foot irregularities Guillain–Barré syndrome ▪ Respiratory failure, cardiac arrhythmias, quadriplegia SIGNS & SYMPTOMS ▪ ↓/absent deep tendon reflexes, paresthesia, muscle weakness, ↓ touch sensation DIAGNOSIS DIAGNOSTIC IMAGING Gadolinium-enhanced MRI ▪ Guillain–Barré ▫ Intrathecal spinal nerve root thickening 676 OSMOSIS.ORG LAB RESULTS ▪ Guillain–Barré ▫ Albuminocytologic dissociation in cerebrospinal fluid (CSF) OTHER DIAGNOSTICS ▪ Electromyography (EMG), nerve conduction studies (NCS) ▫ ↓/blocked nerve conduction velocity ▪ History, physical examination TREATMENT MEDICATIONS ▪ Guillain–Barré ▫ Intravenous immunoglobulin (IVIG) SURGERY ▪ Charcot–Marie–Tooth ▫ Correction of severe skeletal irregularities OTHER INTERVENTIONS ▪ Charcot–Marie–Tooth ▫ Genetic testing, orthotics, physical/ occupational therapy ▪ Guillain–Barré ▫ Plasmapheresis supportive care (e.g. NOTES NOTES PNS DEMYELINATING DISORDERS GENERALLY, WHAT ARE THEY? PATHOLOGY & CAUSES ▪ Progressive peripheral nervous system (PNS) disorders destruction of myelin, disruption of motor, sensory function TYPES Charcot–Marie–Tooth disease ▪ Genetic mutations → defective myelin sheath, impaired neuronal mitochondrial function Guillain–Barré syndrome ▪ Acute triggering event (e.g.
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