RT Book, Section
A1 Tian, Cuixia
A2 Hershey, Andrew D.
SR Print(0)
ID 1195238228
T1 Motor Neuron Disease
T2 CURRENT Diagnosis & Treatment Pediatric Neurology
YR 2023
FD 2023
PB McGraw Hill Education
PP New York, NY
SN 9781260457520
LK accesspediatrics.mhmedical.com/content.aspx?aid=1195238228
RD 2024/04/18
AB Motor  neuron  diseases  are  a  group  of  rare  diseases  affecting  spinal  motor  neurons.  They  clinically  present  with  progressive  degenerative  muscle  weakness  and  wasting  and  lead  to  impairment  in  mobility,  speech,  swallowing,  and  breathing  functions.  Spinal  muscular  atrophy  (SMA)  is  the  leading  cause  for  motor  neuron  disease  in  children.  Here,  we  focus  on  SMAs,  including  the  most  common  SMA,  also  known  as  proximal  or  5q-SMA,  as  well  as  atypical  SMA,  also  known  as  SMA  plus,  especially  riboflavin-responsive  motor  neuron  disease,  which  is  a  treatable  childhood-onset  motor  neuron  disease.