RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164072760
T1 Hereditary Sensory and Autonomic Neuropathy Type V (HSAN V)
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164072760
RD 2024/04/20
AB Group  of  genetically  inherited  disorders  that  share  the  primary  feature  of  progressive,  generally  severe,  lower  extremity  spasticity.  Type  V  is  defined  as  medical  condition.  It  is  associated  with  congenital  insensitivity  to  pain  with  partial  anhidrosis.  However,  it  is  also  possible  to  observe  this  disease  in  presence  of  anhidrosis.  The  signs  and  symptoms  of  HSAN5  appear  early,  usually  at  birth  or  during  infancy.  Characteristically,  individuals  loose  the  perception  of  deep  pain,  absence  of  pain  with  bone  injuries,  ligaments,  or  muscles.  The  clinical  presentation  of  these  patients  is  repeated  severe  injuries  that  go  unnoticed.  Repeated  trauma  is  eventually  associated  with  destruction  of  the  articulations,  a  condition  called  Charcot  joints.  It  is  differentiated  from  HSAN4  by  the  absence  of  myelinated  sensory  fibers  on  large  conducting  nervous  structures.