Dystrophin
It helps stabilize and protect muscle fibers, which prevents contraction-induced muscle necrosis.
Describe how a 2 year old patient with DMD may present.
Muscle atrophy
Decreased DTRs (reflexes)
Waddling gait
Gower maneuver
Calf pseudohypertrophy
Scoliosis
Developmental delay, including inability to walk
Cognitive impairment
Cardiorespiratory issues
Name 3 SERIOUS complications of muscular dystrophy
Respiratory failure
Dilated cardiomyopathy
Arrhythmias
What is the medical treatment for muscular dystrophy.
Glucocorticoids
Eteplirsen
Which 2 cellular structures are connected by dystrophin?
Intracellular actin and the extracellular matrix.
Show your interpretation of a waddling gait.
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How do BMD and DMD differ if they involve the same protein?
In BMD, dystrophin is reduced.
In DMD, dystrophin is absent.
How does eteplirsen work?
An antisense oligonucleotide that binds to exon 51 of the dystrophin RNA prior to splicing, which leads to skipping of this exon
Results in production of truncated but functional dystrophin protein
Can only be used in individuals with mutations within exon 51 of the dystrophin gene
Explain the pathophysiology of pseudohypertrophy seen in muscular dystrophy.
Picture
Name 3 diagnostic tests used to evaluate muscular dystrophy.
Blood tests (CK and aldolase)
Genetic analysis (dystrophin gene mutation)
Muscle biopsy
List the non-pharmacological treatments for muscular dystrophy.
Rehab therapy (physical, occupational, speech)
Assistive devices (wheelchairs, gait trainers) and orthotics (AFO, SMO)
Psychological therapy
Ventilation support
Surgery for orthopedic complications (scoliosis and contractures)