Familial Lumbosacral Syringomyelia

HSANs: Clinical Features, Pathologic Classification, and Molecular Genetics

“…79,177 Denny-Brown also reported loss of reflexes in the upper limbs. 79,177 Denny-Brown also reported loss of reflexes in the upper limbs.…”

“…23,35,65,79,92,107,177 Because only simple hand-held instruments were used, mild tactile loss, given that it was present, might not have been detected. All modalities of sensation may be affected, but the most characteristic ones are loss of pain and thermal sensation.…”

Hereditary Sensory Neuropathy, Type II

“…The impair¬ ment was greatest in the distal regions of the limbs; light touch sense was slightly abnormal in the face and trunk also. Ten-Accepted for publication April 2,1973 Roentgenograms showed the destruc¬ tion of the tip of the distal phalanx of the right second toe, irregularity of the base of the proximal phalanx of the same toe, and fragmentation of the superior aspect of the right patella. There was heterotopic bone in the Achilles tendon region.…”

“…In our previous communications, we reported almost complete absence of myelinated fibers and a decrease in diameter of unmyelinated fibers in the sural nerve. It was postulated that the absence of myelinated fibers might be due to (1) congenital absence of nerve cells as a result of an embryonic abnormality, (2) failure of myelinogenesis of the peripheral process of neurons, or (3) degeneration of axons in utero.…”

Progressive sensory neuropathy in children

“…The lower limbs only may be affected (Van Epps and Kerr, 1940). All modalities of sensation are involved and the sensory loss is greatest over the distal part of the limbs.…”