RT Book, Section
A1 Idiaquez, Juan
A1 Carney, Paul R.
A1 Geyer, James D.
A2 Carney, Paul R.
A2 Geyer, James D.
SR Print(0)
ID 6651743
T1 Chapter 15. Disorders of Muscle and Motor Function
T2 Pediatric Practice: Neurology
YR 2010
FD 2010
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-148925-6
LK neurology.mhmedical.com/content.aspx?aid=6651743
RD 2024/04/19
AB The  myopathies  are  neuromuscular  disorders  in  which  the  primary  symptom  is  muscle  weakness  due  to  dysfunction  of  muscle  fiber.  In  pediatric  patients,  myopathies  can  be  inherited  (such  as  the  muscular  dystrophies)  or  acquired.  The  distribution  of  muscle  weakness  is  proximal  but  it  could  be  generalized  or  distal.  Patients  may  also  complain  of  muscle  pain  and  cramps.  Presentation  of  weakness  may  be  acute  or  insidious  (Figure  15-1).  Acute  weakness  can  occur  in  neuromuscular  junction  disorders.  Some  diseases  are  present  since  childbirth,  and  in  this  group  the  differential  diagnosis  is  important  to  distinguish  the  disorders  from  other  causes  of  hypotonic  infants.  Figure  15-2  shows  a  diagnostic  algorithm  in  infants  with  suspected  neuromuscular  hypotonia.  Evidence  of  reduced  fetal  movement  and  polyhidroamnios  could  be  found  early.  Also  respiratory  and  feeding  difficulties  can  occur.  Other  physical  signs  such  as  joint  contractures  (severe  arthrogryposis),  foot  deformities,  and  facial,  palatal,  and  pharyngeal  abnormalities  are  also  useful  in  detecting  an  inherited  myopathy.