Muscle disorders Flashcards
What five body parts can be impacted by myopathies?
Muscles
Respiratory
The heart
Bowel and bladder
Kidney
What is proximal/pelvic weakness?
Issues raising the arms, gait issues
What can distal weakness lead to?
Trips and falls and hand weakness
What are some symptoms of facial weakness?
Sleep with eyes open and issues pouting
What are some symptoms of bulbar weakness?
Chewing and swallowing issues, aspiration and weak cough
When diagnosed with myopathy, what would be seen on an MRI?
Muscle being replaced by fat
What is the issue with raised creatine kinase?
Can clog the kidneys
What are some examples of acquired processes for developing myopathies?
Autoimmune, inflammatory, toxins, endocrine
What gene leads to myotonic dystrophy?
DMPK gene
What hereditary process is myotonic dystrophy from?
Autosomal dominant
How many times does the CTG repeat need to be repeated for someone to show symptoms of myotonic dystrophy?
Over 50 times
What is a normal number of CTG repeats?
5-37
What are some symptoms of myotonic dystrophy?
Bulbar, respiratory, foot drop, frontal balding, cognition, cataracts, high testosterone
Through each generation, do repeats of the CTG gene increase or decrease?
Increase
What is the main cause of Duchenne’s disease?
Genetic, X-linked disorder