Recessively transmitted predominantly motor neuropathies.

摘要: Recessively transmitted predominantly motor neuropathies are rare and show a severe phenotype. They frequently observed in populations with high rate of consanguineous marriages. At least 15 genes six loci have been found to be associated autosomal recessive CMT (AR-CMT) X-linked (AR-CMTX) also distal hereditary neuronopathy (AR-dHMN). These disorders genetically heterogeneous but the clinical phenotype is relatively homogeneous. Distal muscle weakness atrophy predominating lower extremities, diminished or absent deep tendon reflexes, sensory loss, pes cavus main features this disorder occasional cranial nerve involvement. Although genetic diagnosis some subtypes AR-CMT now available, rapid advances molecular genetics cell biology great complexity. Animal models for most common human disease provide clues understanding pathogenesis help reveal possible treatment strategies inherited neuropathies. This chapter highlights recent biological findings these based on current classification.