Authors :
Roa A. Ali; Hassan Naeem
Volume/Issue :
Volume 5 - 2020, Issue 7 - July
Google Scholar :
http://bitly.ws/9nMw
Scribd :
https://bit.ly/3amFtzE
DOI :
10.38124/IJISRT20JUL825
Abstract :
Ryanodine receptor gene (RYR-1) is a gene
encode calcium release channel in skeletal muscle ,
mutation in this gene lead to rare type of inherited
congenital myopathy which is associated with
rhabdomyolysis and fatal malignant hyperthermia .
We report a case of a 29 year old male known to have
sporadic RYR-1 mutation who presented with myalgia
and fatigue post upper respiratory tract infection
symptoms during COVID19 pandemic .His Creatine
Kinase was markedly elevated without evidence of acute
kidney injury which is usually uncommon. We also
discuss in this case importance of checking CK during
COVID19 pandemic .There is no cure for RYR-1
mutation but proper genetic counselling and patient’s
education about precipitating factor for malignant
hyperthermia will prevent serious complication which
can lead to death.
Keywords :
Rhabdomyolysis with normal renal function , RyR1 mutation and Malignant Hyperthermia
Ryanodine receptor gene (RYR-1) is a gene
encode calcium release channel in skeletal muscle ,
mutation in this gene lead to rare type of inherited
congenital myopathy which is associated with
rhabdomyolysis and fatal malignant hyperthermia .
We report a case of a 29 year old male known to have
sporadic RYR-1 mutation who presented with myalgia
and fatigue post upper respiratory tract infection
symptoms during COVID19 pandemic .His Creatine
Kinase was markedly elevated without evidence of acute
kidney injury which is usually uncommon. We also
discuss in this case importance of checking CK during
COVID19 pandemic .There is no cure for RYR-1
mutation but proper genetic counselling and patient’s
education about precipitating factor for malignant
hyperthermia will prevent serious complication which
can lead to death.
Keywords :
Rhabdomyolysis with normal renal function , RyR1 mutation and Malignant Hyperthermia