Muscular Dystrophy Flashcards
What is the most prevalent form of muscular dystrophy in adults?
Myotonic Muscular Dystrophy
What type of muscular dystrophy occurs when there is an intronic mutation consistent of an unstable expansion of CTG (DMPK gene)?
DM 1
What type of muscular dystrophy is caused by a DNA expansion of CCTG repeat?
DM 2
What type of muscular dystrophy are you more likely to see evidence of myotonia on EMG?
DM1, not consistent with DM2
What lab test are you going to order when suspecting muscular dystrophy?
Serum CK to rule out other cause
CK will be normal to mildly elevated
What tests are you going to order to diagnose and type muscular dystrophy?
Serum CK
Muscle Biopsy
EMG
ECG (heart block in DM1)
What do you need for a definitive diagnosis for muscular dystrophy?
Genetic testing
What medication can be prescribed to treat arrhythmia in muscular dystrophy?
Mexiletine
What muscle groups are seen in DM2?
Mainly proximal muscles
What muscle groups are seen in DM1?
Distal muscles
What is the most common and severe form of childhood muscular dystrophy?
Duchenne Muscular Dystrophy
What type of genetic condition is Duchenne Muscular Dystrophy?
X-linked recessive caused by mutations in the dystrophin gene, affects males exclusively
What are common manifestations of Duchenne Muscular Dystrophy?
Symmetric, progressive proximal muscle weakness (shoulder and hip girdles more common)
What is Gowers sign?
Calf muscle pseudohypertrophy in which child will get up from sitting and climb their legs with their hands
What is the life expectancy of a child with Duchenne’s?
15-18 years of age
