Duchenne muscular dystrophy DMD Flashcards
What protein is absent in the body in DMD?
Dystrophin
When dystrophin is absent, what is the side effect?
Muscle atrophy
DMD is a disorder involved with which part of the chromosome
X linked recessive
Which biologically assigned gender is primarily affected from DMD
males
What is the typical onset age of diagnosis for DMD
3-5 years old
What happens with CK during DMD
Values are extremely elevated
When does ambulation cease for those with DMD
about 10 years
What age is mortality typical for those with DMD
late teens — sometimes late into their 30s/40s
What ways can patients and health provider teams chose to manage their condition (DMD)
Dystrophin restoration, reducing imflammation with corticosteroids, improve muscle growth,
DMD Health Condition
X-linked recessive
Absence of dystrophin leading to muscle breakdown
Diagnosed by creatinine kinase blood test
DMD BSF Impairments
Proximal weakness > distal weakness
Low tone
Waddling gait
Calf pseudohypertrophy
Cardiomyopathy
Medications for DMD
Glucocorticoids - corticosteroids (prednisone, agamree, emflaza, vamorolone)
Antifibrotics
Myostatin inhibition
Muscle growth and protection (duvyzat)
Exon skipping (amondys 45, exondys 51, viltepso, vyondys 53)
Gene therapy (eleydis)
Stop codon readthrough
Cell-based therapies
DMD specific tests and measures
North Star Ambulatory Assessment (NSAA)
Egan Klassifikation (EK) Scale
DMD Interventions
Contracture prevention
Prevent overexertion
Promote energy conservation
Provide modified exercise, consider aquatic exercise
Avoid eccentric exercise
Equipment and orthoses
DMD Special Considerations
May have autistic-like features
May have developmental speech delays
Lose walking ability between 10-15
Gowers sign
Movement System Diagnoses
Force Production Deficit
DMD Signs & Symptoms
Boys 3-5
Frequent falls
Difficulty with floor to stand transfers
Difficulty negotiating stairs
Limitations in running and jumping
Possible speech delays and autistic like features
Delayed motor skills
Hed lag
Delayed walking
Difficulty with squat to stand
Calf hypertrophy
Proximal muscle weakness
Gower’s maneuver
Gait pattern: wide base of support, toe walking, trendelenburg, excessive lordosis, excessive arm swing
Skill loss
Cognitive impairment
Short hamstrings
Short heel cords
DMD Stages
Gower’s sign
↓
loss of floor to stand transfer
↓
loss of stair negotiation
↓
loss of sit to stand transfer
↓
loss of ambulation
↓
loss of overhead reach
↓
loss of bed mobility
↓
respiratory decline
↓
loss of ability to feed self
↓
loss of arm strength for gross hand use
↓
loss of fine motor movement
How do you diagnose DMD
Creatinine kinase blood testing (CK)
Genetic testing
Muscle biopsy
DMD Prognosis
30-40 year life expectancy
Progressive decreases in cardiopulmonary and musculoskeletal health
