Lab 7 Wiki Assignment- Brody Myopathy-By: Alanna DeGroot

What is Brody Myopathy?

     People who suffer from Brody myopathy usually begin showing symptoms during their early childhood years. It is a hereditary condition which can show up as a  result of the a mutation in the ATP2A1 gene.  Brody myopathy is something that affects the skeletal muscles of people who are born with it. People who suffer from it can notice that after exercise their muscles are stiff and will experience muscle cramps. After a short resting period the symptoms seem to subside.  Other than stiffness and the slight cramping people who have this condition are not in any pain, however in colder temperatures the symptoms can be worse and they may have some mild discomfort. The areas of the body that tend to be affected the most are the face (most noticeable in the eyelids), arms, and legs. These are the skeletal muscles that have the most movement and so they are more affected than other areas of the body. In some cases, Brody Myopathy will actually break down the muscle tissue in those who exercise too much. When the tissue is being destroyed it releases myoglobin into the body, myoglobin turns into myoglubinuria and patients will notice that their urine is red and/or brownish in color. Since it is such a rare condition, the number of people who suffer from this condition is not currently known. 

Treatments for Brody myopathy:

     There are a few different treatments for Brody myopathy but most have limited success rates. Patients may take a muscle relaxer such as dantrolene to relieve some discomfort from stiffness. They also take blood pressure medication such as verapamil that is considered to be a calcium channel blocker. 

Statistics: 

     -1 in every 10,000,000 people will suffer from Brody myopathy. 
    - If both parents carry the autosomal chromosome recessive gene then:
          -Their child has a 1 in 4 chance of developing Brody myopathy. 
          -Their child has a 1-2 chance of not developing Brody myopathy, but being a carrier of the gene. 
          -Their child has a 1-4 chance of not developing Brody myopathy and also not being a carrier of the gene. 

References: 

https://ghr.nlm.nih.gov/condition/brody-myopathy#

https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy