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
How many male births are affected by Duchenne’s?
1 in 5000
What are symptoms of Duchenne’s disease?
Waddling gait, respiratory, cardio problems
What is the cause of Becker’s disease?
Genetic, X-linked disorder
How many male births are impacted by Becker’s disease?
0.1 - 0.8 in 10000
What symptoms are related to Becker’s disease?
Walking and lifting issues, bigger calfs, weak muscles, later onset
What gene causes FSHD?
DUX4 gene
How many people are affected by FSHD?
1 in 8000
What are symptoms of FSHD?
Facial weakness, trips and falls and scapulae issues
What is the cause of IBM?
Genetic, can be dominant or recessive or autoimmune
How many births are affected by IBM?
1-8 in 1 million
What are symptoms of IBM?
Slow progression, proximal leg and distal arm, mild muscle pain and decline in strength
