Busy. Please wait.
Log in using Clever

show password
Forgot Password?

Don't have an account?  Sign up 
Sign up using Clever

Username is available taken
show password

Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account.
Your email address is only used to allow you to reset your password. See our Privacy Policy and Terms of Service.

Already a StudyStack user? Log In

Reset Password
Enter the associated with your account, and we'll email you a link to reset your password.
Didn't know it?
click below
Knew it?
click below
Don't know
Remaining cards (0)
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.

  Normal Size     Small Size show me how

Muscular Dystrophy

Peds MD Lecture

Definition of MD Group of genetic neuromuscular disorders which involve motor neuron (anterior horn/peripheral nerve), neuromuscular junction, & muscle; Primarily genetic from Mom; 30% can be 1st generation mutation
What causes progressive loss of muscle contractility? Destruction of Myofibrils
Absence or diminished production of what protein that helps keep muscle intact? Dystrophin
Duchenne 1-4 yo; Rapid progression; Loss of gait by 90-10; Death in late teens; X-linked; Most common in US; Deficit of dystrophin
Becker 5-10 yo; Slow progression; Gait to early teens; Lifespan into 30s; X-linked
Limb-Girdle More pronounced in adulthood; Proximal wkness
Conegnital Onset at birth; Variable progression; Shortened lifespan; Recessive
Facioscapulohumeral Onset first decade; Slow progressing; Loss of gait later in life; Variable life expectancy
Myotonic Onset birth; Slow progression with loss of gait later in life; Significant intellectual impairment; Dominant
Emery-Dreifus Onset childhood to early teens; Slow progression with cardiac abnormality; Normal lifespan; X-linked; Rare
Oculopharyngeal Onset 40-50; Wkness of eyelids & throat, facial & limb mm later; Swallowing & keeping eyes open are difficult
Distal Childhood to adulthood; Affects distal mm of lower arms, hands, lower legs & feet; Progressive mm wasting; Not life-threatening
Duchenne typically dx'd by? 4 or 5 but parent concern prior to that age
Dx of Duchenne Mm biopsy; Elevated level of creatine kinase in blood; DNA testing
Symptoms of Duchenne Generalized proximal wkness; Enlarge calves (pseudohypertrophy); Delayed motor skills (ambulation); Frequent falls; Difficulty getting off floor; (+) Gowers sign
Complication- Contractures Start in feet, move to hips & L-spine; Hamstrings once they start sitting more
Complication- Gait Increased side to side sway
Complication- Decreased mobility& Hard to move; Weight becomes issue with increased age
Other complications Spinal curvature; Decreased respiratory fxn; Obesity/malnutrition
Dx Progression Voluntary to Involuntary mm (includes heart & respiratory mm)
Typical Progression Loss of fxnal ambulation by 9-10; WC by 12; Vent dependent in late teens; Life expectancy depends on progression
PT Eval Hx/MD notes; Parent assessment; ROM/strength; Posture; Gait; Fxnal mobility; Balance; Motor milestone attainment
PT Intervention- Educate family & pt Stretching, strengthening, equipment needs, planning for progression; Integrating "normal"
Treatment areas for concern LE: heel cord length, pelvic posture, quad & psoas contractures, IT band; Trunk: abs, intercostals, lumbar extensors, flexors & rotators
Gait: addressing toe walking Splint/night splints; Tight gastroc/soleus increases ankle sprain risk leading to gait loss; Increased lumbar lordosis to compensate poor balance; Scoliosis common (affects respiration)
Treatment Activities kids enjoy; Be safe & know limitations; Teach parents activities to do at home; Sensory activities as abilities decline; Measure disease progression; Teach compensatory techniques
Transfers Posture; Safety; Allow person being transferred to help as much as possible; Slide boards/discs; Gait belts; Hoyer/track lifts
Sensory Integration Diminishing mvmt & sensory input; Need mvmt opportunities & neurological input
Sensory Integration Weighted blankets; Therapy balls; Massage; Joint approximation; Compression; Aquatics; Isometric mm contractions; Body awareness; Swinging; Burrito; Percussion; Chewing/sucking; Massage; Vibration
Respiratory Ex's Diaphragm breathing; Intercostals; Upper rib cage; Manual assistance; Mechanical ex's latera (cough assist, active breathing cycle, autogenic drainage)
ROM- how often to stretch? Daily
Splinting Resting, Night; AFO's for gait; Serial casting; No intervention; Orthotics; Ankle supports
AD's/Equipment Provide WB opportunities to decrease fx; Falls; Standers; Adaptive tricycles; W/C; Xfer board; Hoyer/track lift; Bedside commode; Bath aids
Pharmacological Intervention Steroids (prednisone, deflazicort); Respiratory meds; Pain mgmt; Vitamins (coQ10)
SMA- Type I (Acute Childhood) Wkness at birth in anti-gravity positions, cranial nn can be involved; Limited fetal mvmt; Respiratory care & positioning primary concerns; Can't sit independently; Feeding issues; Life expectancy: months->few years
SMA- Type II (Chronic Childhood) Wkness within first year; Most never walk; Respiratory issues, mobility & positioning primary concerns; Can live into early adulthood
SMA- Type III (Juvenile Onset) First decade onset; Calf pseudohypertophy; Do gait but if sx noted by age 2, most likely use scooter/WC for primary mobility during school age; Vocational planning; Live into adulthood
Other Compounding Factors Brain development- seizures, progressive decreasing cognitions (not decreasing, just not developing); Herat problems; Pulmonary fxn
Helping prepare parents for _____ is important but so is what? change; So is acceptance of child for who they are now
Created by: 1190550002



Use these flashcards to help memorize information. Look at the large card and try to recall what is on the other side. Then click the card to flip it. If you knew the answer, click the green Know box. Otherwise, click the red Don't know box.

When you've placed seven or more cards in the Don't know box, click "retry" to try those cards again.

If you've accidentally put the card in the wrong box, just click on the card to take it out of the box.

You can also use your keyboard to move the cards as follows:

If you are logged in to your account, this website will remember which cards you know and don't know so that they are in the same box the next time you log in.

When you need a break, try one of the other activities listed below the flashcards like Matching, Snowman, or Hungry Bug. Although it may feel like you're playing a game, your brain is still making more connections with the information to help you out.

To see how well you know the information, try the Quiz or Test activity.

Pass complete!
"Know" box contains:
Time elapsed:
restart all cards