Neuromuscular Junction and Muscle Disorders Flashcards
Myasthenia Gravis (MG) is a _____ disorder associated with a post-junctional defect of the AChR.
autoimmune
Myasthenia Gravis (MG) is an autoimmune disorder associated with a ______.
post-junctional defect of the AChR
Who is more likely to get MG?
women
What are the s/s of MG?
- weakness
- fatigue
- ptosis
- diplopia (double vision)
- blurred vision
- slurred speech
- trouble chewing and swallowing
Dx?
- weakness
- fatigue
- ptosis
- diplopia (double vision)
- blurred vision
- slurred speech
- trouble chewing and swallowing
Myasthenia Gravis (MG)
How is diagnosis of MG confirmed?
+ AChR antibodies in the serum
What medication is given to treat MG specifically and why?
Pyridostimine- it’s an oral AChE inhibitor
With management, the majority of MG pts have a _____ quality of life.
excellent
How does a pt get muscular dystrophy?
it’s X-linked recessive
What is Becker dystrophy (BD)?
It is muscular dystrophy, but unlike Duchenne’s, it has:
- later onset
- more benign course
- longer survival
- less mental impairment
Which muscular dystrophy type?
- later onset
- more benign course
- longer survival
- less mental impairment
Becker dystrophy (BD)
Dx?
- clumsy waddling gait
- protruberant abdomen
- lumbar lordosis
- enlargement of the calves
- Gower’s maneuver
Duchenne Muscular Dystrophy (DMD)
How is Duchenne Muscular Dystrophy (DMD) diagnosed?
- markedly elevated serum CK
- DNA testing
What are the 3 common mutation types in DMD?
- deletions
- duplications
- point mutations
