Peroneal Muscular Atrophy (PMA; Neuropathy, Hereditary
Sensorimotor, with Upper Motor
Neuron, Visual Pathway, and Autonomic Disturbance) 727g65h 727g65h 727g65h
General: Peroneal muscular atrophy with involvement of other parts of nervous system; autosomal dominant; upper motor neuron and visual pathway lesions.
Ocular: Visual pathway lesions; ptosis; irregular pupils; iris atrophy; lack of response to light or near vision.
Clinical: Distal weakness and muscle atrophy; absent ankle jerks; foot drop; stocking-type sensory loss; diminished sweating in distal limbs.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Rechthand E, et al. Hereditary neuropathy with upper motor-neuron, visual pathway, and autonomic disorders. Neurology 1983; 33:1495-l497.
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