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Terms in this set (63)
When is Muscular Dystrophy diagnosed?
age 5, usually when they first start running
What is Muscular Dystrophy characterized by?
Define Muscular Dystrophy
A progressive group of inherited muscle diseases classified by location of affected musculature, type of protein deficiency (usually dystrophin: which is DMD) or presentation
How many Primary classifications of Muscular Dystrophy are there?
What are the 3 genetic causes of MD?
X Linked Recessive
What causes the death of children with MD?
when the weakness reaches muscles of respiration
What are the 2 X-Linked Recessive type of MD?
Beckers and Duchenne's Muscular Dystrophy
many times the mother doesn't know she is carrying and won't find out until her oldest child is 5 and she already had a few more kids
what is the Autosomal Dominant type of MD?
How is MD diagnosed?
Family History: did someone in fam have it?
Physical Exam/origin of weakness (muscle weakness first thing checked)
Motor Exam (Gower's Sign): when you see this you know there is something wrong
Muscle Biopsy: fatty infiltrates found/myofibril destruction
Increased Serum Creatine Phosphokinase Levels (CPK): due to the muscle cell death
what is the hallmark sign of MD?
What are the 9 types of Muscular Dystrophy?
what are the 4 rarest types of MD?
Which type of MD is NOT compatible with life?
When is Limb-Girdle Muscular Dystrophy recognized/dx?
teenage to early adult years
Where does the weakness start in Limb-Girdle MD?
When do pts with Limb-Girdle MD lose ability to walk?
within 20 years of dx
How long will people with Limb-Girdle MD live for?
survive until mid-late adulthood
How many sub-type of Limb-Girdle MD are there? what are they dependent on?
When is Becker's Muscular Dystrophy recognized/dx?
between 2-16 y.o. but as late as 25 y.o.
What type of MD affects ONLY males?
What significant problems is Becker's MD associated with?
heart and cardiac problems
What type of strengthening do we focus on in children with Becker's MD? why?
focus on endurance because of the heart/cardiac problems and because these pts tend to live longer
How long will people with Becker's MD live for?
survive until later adulthood
How do Becker's MD pts "muscle wasting" typically present?
They look very thin and their arms look like small strands
When is Duchenne's Muscular Dystrophy recognized/dx?
When are pts with Duchenne's MD typically braced by?
When are children with Duchenne's MD typically in a W/C by?
what is Duchenne's MD typically mistaken for in the early progression of the disease (prior to dx)?
The lack of production of which protein is characteristic of Duchenne's MD?
Severity of Duchenne's MD varies depending on what ______ the pt is in
when do pts with Duchenne's MD generally live until?
What is the most common cause of death in pts with Duchenne's MD? Less common?
Most: Respiratory Insufficiency
Less: Cardiac Insufficiency
Describe the standing posture of a pt with Duchenne's MD
Incredible Lordosis in Back
What is one of the most defining physical features of a child with Duchenne's MD?
Pseudohypertrophy of Gastroc
What is the role of the protein Dystrophin?
Acts a shock absorber in plasma membrane of all myocites and some neurons. Without it, the myofibrils will break
stabilizes cell membrane during contraction and relaxation of muscles
Which chromosome produces dystrophin?
What type of Muscular Dystrophy is associated with DEFECTIVE dystrophin?
Becker Muscular Dystrophy
What type of Muscular Dystrophy is associated with DEFICIENT dystrophin?
Duchenne's Muscular Dystrophy
What is/causes the pseudohypertrophy of the gastroc in children with Duchenne's MD? when does it go away?
Calf mm become excessively enlarged, replaced by fat and connective tissue; typically disappears when child stops ambulating and disease progresses
What are the clinical signs and presentation of Duchenne's Muscular Dystrophy?
Initially: c/o fatigue and falls
Delay in motor milestone: generally antigravity milestones (walking delayed by 3-6 months)
-really weird/abnormal gait
-hyper retracted scapulae to keep self up
-use momentum to propel self
Excessive Lordotic Posture
Heel Cord contractures (early sign)
Pseudohypertrophy of gastroc
Functional Limitations - limited negotiation of stairs, running, rising to stand, dressing, feeding
Reflexes typically absent at the knee and UEs
-ankle present until terminal stages
** will have this both at muscular and skeletal level
Due to Hypoventilation in pts with Duchenne's Muscular Dystrophy, what do they have an increased risk for?
What are the 6 stages of Duchenne's MD? brief description
Mid-ambulatory (getting into W/C)
Late-ambulatory (going into demise)
Interventions for Early Duchenne's MD
-achieve appropriate developmental milestones (ie. walking/stairs)
** heel cords and hamstrings (to decrease pain)
-begin respiratory awareness
--breathing techniques (ie. purse lip)
** best option to date
--10 week program ↑strength & ↓fatigue
--tv on floor to avoid kyphosis
How do children with DMD generally get services in school?
504 during early stage
IEP as they progress to later stages
Interventions for pts in Mid-ambulatory stage of DMD
-adapt PT to child's current level of performance because it will be changing very frequently
-start to lose balance here
How do we want to teach children with Muscular Dystrophy to go down stairs? why? when?
-to conserve energy
What type of muscle strengthening do we want to avoid in pts with Muscular Dystrophy?
AVOID High Resistance & Eccentric strengthening (especially in pts with DMD)
Research shows that strengthening of both ____ and ____ affected functional performance, ambulation, strength and endurance in pts with Muscular Dystrophy
For children with Muscular Dystrophy, who is the best reporter?
the child his/herself
What is the best type of strengthing to use for children with DMD?
low load concentric strengthening
what should we WE SHOULD PROMOTE/PROVIde for children with DMD?
Age-appropriate/peer based recreational activities
-they're going to be the same cognitively as their age matched peers (they want to be with own classmates)
-Concentric low load; avoid eccentric(don't have them lifting things overhead either)
-Exercise to tolerance: don't "push"
-Rest Periods: quiet stretching interspersed with activity
-Energy conservation during ambulation
Support all aspects of FUNCTION (transferring to different surfaces like a toilet)
Interventions for Late-ambulatory/Transitional Duchenne's MD
-Difficult stage for everyone
-W/C prescription and training
--helps with clearance, transfers, stretching and breathing
-Sliding Board & Hoyer lifts
-increase focus on Respiratory Capacity
-OTs for ADLs: feeding, toileting, dressing, accessing laptop (because writing drops off as well)
How can you address the pain in a pt with DMD's gastrocs?
What do pts with DMD in the Early non-ambulatory stage generally present with?
Contractures: mainly in the ankle (PFs) but also in the knee, hips, forearm pronators, elbow flexors, long finger flexors
Spinal Deformities: Scoliosis, hyperlordosis, Long "C" Kyphosis
-decreased ability to take deep breath/cough
What do pts with DMD in the Mid non-ambulatory stage generally present with?
Increase in severity of scoliosis
Equipment needs: seating cushion, air flow mattress (because this stage goes on for a while), electric tilt W/C
Still verbal but voice is strained
Dependent in almost all ADLs (MAYBE can feed with right assistive device and MAYBE computer use with infrareds)
What do pts with DMD in the Late non-ambulatory stage generally present with? what might we work on with them?
** difficulty coordinating breath with speech
Cough assist and Ambu Bag Training
Bed sore management
Support to family
May be placed on Hospice
When you move a child in this phase, every part of his body has to be supported
Do we have treatment guidelines? what are they or what do we do?
We don't really have RX guidelines. We need to look at their compensations and say "where do we go from here?"
What guides the treatment for pts with muscular dystrophy?
How much time do you need to spend with muscular dystrophy population?
a lot! 3x/week won't cut it. you really need to use family involvement
What is the evidence behind steroid use in pts with muscular dystrophy?
improve respiratory ability and UE strength for 3 years tops for small % of pts, otherwise not effective
if steroids are used, when should they be given to a child with muscular dystrophy?
at a plateau phase 4-6 y.o.
through what act has the life expectancy of muscular dystrophy been increased by 10 years and how are the drugs working?
-MD Care Act
-molecular path skipping over Px21
Takehome messages about Muscular Dystrophy
Difficult b/c your interventions change very frequently and you know the end result.
PT is the "only viable intervention"...
Parents/families and the child his/herself rely primarily on the PT
PT's treating a high functioning child who just looks clumsy and then to Rxing a severely involved low functioning child within a span of a few months, years at the latest, within the decade.
Knowledge of assistive devices, equipment and technology...for each phase. Need to project ahead when ordering equipment
THIS SET IS OFTEN IN FOLDERS WITH...
Blood Vessels I
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