TY  - CHAP
M1  - Book, Section
TI  - MERRF Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
AB  - MERRF  is  an  acronym  that  stands  for  Myoclonus  Epilepsy  Ragged-Red  Fibers.  It  is  part  of  a  larger  spectrum  of  muscular  disorders  called  mitochondrial  encephalomyopathies.  The  most  frequent  symptom  is  myoclonic  seizures  that  are  usually  sudden,  brief,  jerking  spasms  that  can  affect  the  limbs  or  the  entire  body.  Ataxia,  lactic  acidosis,  dysarthria,  optic  nerve  atrophy,  short  stature,  hearing  loss,  dementia,  and  nystagmus  may  occur.  Progressive  peripheral  neuropathy  causes  altered  sensation  that  reproduces  walking  on  pins-and-needles.  Most  patients  have  signs  of  cardiomyopathy  and  dysrhythmia,  usually  Wolff-Parkinson-White  Syndrome.  Occasionally,  patients  may  show  lipomas  around  the  neck  and  retinitis  pigmentosa.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/20
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1164078436
ER  -