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Muscular Dystrophy

Terms in this set (63)

When is Muscular Dystrophy diagnosed?
age 5, usually when they first start running
What is Muscular Dystrophy characterized by?
-incredible weakness
-compensation
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?
9
What are the 3 genetic causes of MD?
X Linked Recessive
Genetic Mutation
Autosomal Dominant
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?
Myotonic Dystrophy
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

Genetic Test

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?
Gower's Sign
What are the 9 types of Muscular Dystrophy?
-Duchenne's
-Becker's
-Limb Girdle
-Myotonic
-Congenital
-Distal
-Facioscapulohumeral
-Oculopharyngeal
-Emery-Driefuss
what are the 4 rarest types of MD?
-Distal
-Facioscapulohumeral
-Oculopharyngeal
-Emery-Driefuss
Which type of MD is NOT compatible with life?
Congential
When is Limb-Girdle Muscular Dystrophy recognized/dx?
teenage to early adult years
Where does the weakness start in Limb-Girdle MD?
Hips->shoulder->UE->distal LE
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?
-15

-protein presentation/production
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?
Becker's

Duchenne's
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?
6 y.o.
When are pts with Duchenne's MD typically braced by?
8 y.o.
When are children with Duchenne's MD typically in a W/C by?
12 y.o.
what is Duchenne's MD typically mistaken for in the early progression of the disease (prior to dx)?
Hypotonia
The lack of production of which protein is characteristic of Duchenne's MD?
Dystrophin
Severity of Duchenne's MD varies depending on what ______ the pt is in
-stage
when do pts with Duchenne's MD generally live until?
15-25 y.o.
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
Chin Tuck

Retracted Scapulae

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?
Xp21
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)

Trendelenberg Gait
-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

**Scoliosis** will have this both at muscular and skeletal level

Hypoventilation
Due to Hypoventilation in pts with Duchenne's Muscular Dystrophy, what do they have an increased risk for?
Pneumonia
What are the 6 stages of Duchenne's MD? brief description
Early (transitional)

Mid-ambulatory (getting into W/C)

Late-ambulatory (going into demise)

Non-ambulatory:
-Early non-ambulatory
-Mid non-ambulatory
-Late non-ambulatory
Interventions for Early Duchenne's MD
-achieve appropriate developmental milestones (ie. walking/stairs)

-maintain function

-**Stretching** heel cords and hamstrings (to decrease pain)

-begin respiratory awareness
--breathing techniques (ie. purse lip)

-**Swimming** best option to date
--10 week program ↑strength & ↓fatigue

-adjust environment
--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

**parent preference**
Interventions for pts in Mid-ambulatory stage of DMD
-Equipment/splinting/othotics

-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?
-Side-stepping
-to conserve energy
-early stage
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
-UEs
-LEs
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)

Strengthening
-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

-Standers
--helps with clearance, transfers, stretching and breathing

-Sliding Board & Hoyer lifts

-KEEP STRETCHING

-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?
myofascial release
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

Respiratory Insufficiency
-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?
**Staccato Speech** difficulty coordinating breath with speech

Cough assist and Ambu Bag Training

Bed sore management

Support to family

Positioning/respiratory care

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?
the compensations
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
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