Muscular Dystrophy: Exam 2 First Lecture Flashcards
1
Q
Muscular Dystrophy Defined
A
- MDs: Group of disorders that result in muscle weakness and a dec. in mm mass over time due to destruction of myofibrils which impairs mm contractility
2
Q
PRIMARY issue w/ MD
A
WEAKNESS
3
Q
2* Issues w/ MD:
A
- Jt contractures
- Postural mal-alignment
- Decd respiratory capacity
- Fatigability
- Obesity
- Slightly lower IQ
4
Q
MD
Phys mgmt is CRUCIAL
A
QOL
Lifespan
5
Q
9 Forms of MD:
A
- Duchenne
- Becker
- Congenital
- Facioscapulohumeral
- Congenital Myotonic
- Emery-Dreifuss
- Limb-Girdle
- Oculopharyngeal
- Distal
6
Q
MOST COMMON FORM OF MD
A
Duschene Muscular Dystrophy “DMD”
7
Q
Duschene Muscular Dystrophy “DMD”
Passed onto sons how
A
X-linked recessive inheritance pattern and is passed on by mother→sons
8
Q
DMD causes
A
- Abnorm/missing dystrophin (PRO in MD)
- Mechanical weakening of sarcolema
- Inapprop. Calcium uptake
ALL DESTROYS MUSCLE FIBERS
9
Q
Duschene Muscular Dystrophy “DMD”
NO CURE BUT…
A
Meds such as steroids and dystrophin replacing agents help to prolong worsening effects
10
Q
Duschene Muscular Dystrophy “DMD”
Life expectancy
A
Early 30s
11
Q
DMD Clinical Presentation
Infancy→Preschool
A
- Typ NO SIGNS or impairments
-
MOST late walkers
- ~18mos
-
MOST late walkers
- Can be dx’d early if family hx
12
Q
DMD Clinical Presentation
Early School Age (4-5yo)
A
- Dx usually made (~5yo)
-
Pseudohypertrophy
- fake mm mass, most prom. in calves→ mm fibers replaced by fat as mm deteriorates
-
Clumsiness, falls, inability to keep up
- Lateral sway w/ running
- (+) Gowers
13
Q
DMD Clinical Presentation:
6yo
A
- Rising from floor + stairs become major functional limitation
- REGRESS to step-to== RED FLAG!!!
14
Q
DMD Clinical Presentation
***8yo
A
-
Progressive gait changes develop 2* progressing weakness:
- INC BOS
- Compensatory lordosis
- weak core→ hang out on ligs
- Compensated Trendelenburg
- Decd reciprocal arm swing
- OR excessive to make up for trunk rotation loss
- Toe walking
- compensatory strategy for prox. weakness
- calf tightness later
- In-toeing
- Fatigue
- Pulm impairs w/ decd VC
15
Q
Gower’s Sign
A
- Occurs when weakness of prox. limbs impairs ability to rise from floor
- (+) Gower’s→ presents when pushing up from standing via “walking” arms up legs to gain upright pos.
16
Q
Gower’s Sign + End result
A
NOTE: Excess PF + knee EXT/HyperEXT
Toe-out
17
Q
DMD Primary mm’s impacted:
A
Typ proximal muscle weakness
18
Q
DMD PT Eval
Strength
A
May be eval’d w/ MMT
Dynamometry found BEST for this pop.
19
Q
DMD PT Eval
ROM findings:
A
- Appears first→ mild gastroc and TFL tightness
- Incd lordosis== loss of pelvic mob.
- *Limitations not typ seen before age 5
20
Q
DMD PT Eval
Approp. Standardized Assess. Tools
KNOW THIS ONE FOR DMD*****
A
Vignos Functional Rating Scale
*activity limitation
21
Q
DMD PT Eval
Approp. Standardized Assess. Tools
A
- PEDI
- SFA
- Barthel
- EK Scale (body function)
- ****Vignos Functional Rating Scale (activity limit.)
- KNOW IT!!!
- QoL Measures (specifically as disease process hastens)
22
Q
Vignos Functional Rating Scale for DMD
*activity limits
Understand lvl of “1. least limits” vs. “10. most limits”
A
see pics
23
Q
80% DMD cases develop scoliosis after loss of amb.
How can we prolong this?
A
Maintaining upright walking!!!!!
24
Q
DMD PT Eval
Respiratory status
A
- Chest wall excursion, RR, cough/clear secretions, VC, inspirometer
- Informal: bubbles, tissue blow, cotton ball blow w/ straws→ monitor time and document quality
25
DMD PT Eval
## Footnote
**standardized _Endurance_ Test for DMD**
10 Meter Walk Test
26
DMD PT Eval
## Footnote
**Endurance**
* 6MWT, 2MWT
* PEDS RPE during functional tasks
* TUG PEDS
* **10 Meter Walk Test→ Standardized for DMD\*\*\*\*\***
27
DMD PT Eval
## Footnote
**Pain**
FACES
Standard VAS
28
DMD PT Eval
## Footnote
**Coordination**
Testing often inaccurate 2\* weakness impairing mvmts
Ex. walk in a way that works for them
29
DMD PT Eval
## Footnote
**Sensation**
Generally normal
30
DMD PT Eval
Mobility
Look @ mobility and current DME use
31
DMD PT Eval
## Footnote
**participation restricts:**
Across lifespan
\*mostly school/family
\*some vocational
32
Typical Clinical Presentation @ Eval
## Footnote
**DMD**
see pics
33
\_\_\_\_\_ may be the FIRST to ID **classic warning signs of DMD**
PT!!!!
34
DMD PT Tx
* Tx initiated @ Dx OR Before
* PT may be first ones to notice
* **Goals of Tx across lifespan:**
* **maintain ROM/slow onset** of tightness
* **maintain/slow loss** of **muscle strength**
* Maint. resp health
* approp. compensations
* Educate!!!!!\*\*\*\* get them involved
35
Long term steroid use side effects
Myopathy
OP
DM (blood glucose disregulation)
36
Major PT Considerations for DMD
## Footnote
**Strengthening controversy**
OVERdoing it will cause mm breakdown and further effects of disease
37
Major PT Considerations
\_\_\_\_\_\_\_ exercise programs **recommended**
SUB-maximal
38
DMD
## Footnote
**Sub-maximal exercise programs recommended**
* **Emphasize→** abdoms, hip exts, ABDs, knee exts
* **Generally safe→** isometrics, open-chain acts.
* **Avoid→** Sit-ups, ALL resistive, fatiguing, **ECC. exercise**
* **Avoid/modify→** Phys fitness gym tests
* **Detrimental→** Immob. after injury (weakens already weak mm)
39
Avoid ECCENTRICS in DMD
T/F?
TRUE!!!!!
40
Tx for Maintaining ROM
## Footnote
**Contracture Mgmt**
PRIMARY FOCUS @ EARLY STAGES\*
* Positioning/ROM _immediately_
* **gastroc/soleus and TFL\*\*\***
* **Hip flexors lose length _over time_**
* LLLD, bracing, positioning device
* **Gen Recommendations:**
* NEVER PAINFUL!
* GENTLE!!!
* **incd risk of tissue injury 2\* loss of myofibrils and replacement w/ connective tissue\*\*\*\***
41
Maintaining ROM
## Footnote
**Positioning**
1. **Night splints**
1. ***leads to longer pd of IND amb.*****\*\*\*\***
2. ROM + night splints==more effective slowing contracture
2. **Serial casting**
1. shorter, more freq, on/off
3. **Prone**
1. Slows hip flex contractures→ esp if WC for mobility
42
Additional PT Tx's
1. Walking programs→ we want to walk as long as possible!
2. Cycling/swimming
3. Amb/standing 2-3h/day
4. Breathing ex's
5. E-stim
43
Additional PT Tx's
**NOTE: these children will steadily _decline_ despite our best efforts**
* **Later stages**
* Pulm health and positioning==**Primary Focus of PT tx**
* help w/ home mods and DME rx
44
DMD ambulation typ lost when?
10-12yo
45
DMD
## Footnote
**Scoliosis and contractures worsen @ this point**
When walking ability ends
46
When walking ability ends..
## Footnote
**Adolescence**
* Amb typ lost (10-12yo)
* WC loco.
* **Scoliosis + contractures worsen**
* Progress. weakness
* IND lost
* Incd burden of care
**Sx usually recommended for misaligns.**
**Depression/decd social interactions**
47
DMD Mobility Considerations
**Those who will want to continue a standing/walking program:**
* Orthotics (HKAFOs/KAFOs), standing frames,
* Good to maint. bone density and dec fx risk, circulation, B&B
* AFOs controversial
* reduce compensations (they may be used to)
* adds wt.
48
DMD Mobility Considerations
## Footnote
**Those who choose to become WC users…**
* WC vs scooter
* pt/family wants and $$$
* **Shoulder weakness→** motorized vs manual wc
49
DMD Timeline
slide 22\*\*\*\*
50
DME Recommendations
Walkers, scooters, manual vs power WC
Hospital beds, chest PT equip.
51
Becker Muscular Dystrophy “BMD”
VARIANT of DMD w/ **slower progression**
52
Becker MD think…..
can walk past 16yo
53
BMD stuff…
* Clinical present. almost identical onset @ 11 but **inability to amb mean of 27yrs**
* Scoliosis, contracture, sk. deforms LESS SEVERE/LATER IN LIFE
* Tx same
* BMD live **longer→** transition planning more important and consider **vocation training needed\***
54
BMD primary mm's effected
## Footnote
**\*same as DMD**
same as DMD
\***More proximal mm weakness**
55
**Congenital** Muscular Dystrophy
## Footnote
**Defined:**
* Heterogenous group of mm disorders **w/ onset in utero or during first year**
56
Congenital Muscular Dystrophy
* **Very wide range of presentation\*\*\* (KNOW THIS!!!) and _progression_**
* _Reported forms:_
* CMD w/ CNS dis.
* Merosin-deficit CMD
* Integrin-deficient CMD
* CMD w/ normal Merosin
57
DMD only found in \_\_\_\_\_\_
MALES!!
58
Fascioscapulohumeral MD
## Footnote
**Defined:**
* **Very rare** inherited disorder→ defect on chromosome 4q35
* **Males + Females equally effected**
59
Fascioscapulohumeral MD
Onset and clinical presentation:
* Onset by age 2→ BUT
* **impairment or disability not present until later in first decade\*\*\***
* **Weakness:**
* facial mm's, shoulder girdle, upper arms
* **Contractures rare:**
* bc everyday use of UEs via ADLs prevents
* **Slow progression** w/ pds of **rapid decline** that can **span decades\*\*\***
60
Fascioscapulohumeral MD
## Footnote
**Infancy/Preschool Age**
* **\*Mm weakness about the face and shoulder girdle _only prominent feature_**
* Sleeps w/ EO
* No whistle, drink straw, bubbles
* Impaired smile ability→ communication defs
* **Typ walk _w/out delay_ BUT w/ _lordosis_ and _scap widely ABD'd_ and _outwardly rotated_== HALLMARK SIGNS\*\*\***
61
**Typ walk _w/out delay_ BUT w/ _lordosis_ and _scap widely ABD'd_ and _outwardly rotated_== HALLMARK SIGNS OF….**
Fascioscapulohumeral MD @ infancy/preschool age
\*break the words down and look @ description- MAKES SENSE!!!
62
Fascioscapulohumeral MD
## Footnote
**School-Age Period**
* **Progressive weakness gen. t/o trunk, shoulder, pelvic girdle**
* IND walking lost end of first decade\*\*
* SEVERE scap winging
* **Dec resistive UE acts to prevent mm fatigue**
* KAFOs considered→ progress. prox LE weakness
* Scooters/power chairs \>\>\>\> manual wc
63
Primary MM's effected **Fascioscapulohumeral MD**
Scapula
Triceps
64
Congenital Myotonic MD
## Footnote
**What is myotonia**
Difficulty w/ relaxation after mm contraction
65
MOST COMMON **ADULT-ONSET MD**
Congenital Myotonic MD
66
Congenital Myotonic MD
## Footnote
**Defined:**
* MOST COMMON **ADULT-ONSET** MD
* Rare w/ severe clin. features
* Children born to **mothers** w/ **myotonic MD**
* chromosome 19 defect
* **Severe hypOtonia and weakness @ birth**
* **→ Infancy onset**
67
Congenital Myotonic MD
## Footnote
**What is _unique_ about this type of MD in terms of actually improving??**
\***If child survives _early newborn stage_, prognosis of _steady IMPROVEMENT_ in motor function over first decade**
## Footnote
**\*\*\***
68
Congenital Myotonic MD
## Footnote
**Clinical presentation**
* Facial mvmts limtd w/ occ. CN involve.
* Resp impairments→ **newborn period**
* Feeding impairs→ NG tube
* **Gen contractures in 50% @ birth**
* ROM, casting, taping, night splints
* **Progressive improvement**
* Most dev. ability to ambulate but diffuse weakness **may return later in life**
If child survives early newborn stage, prognosis of **steady improvement in motor function** over first decade\*\*\*\*
69
Primary mm's effected **Congenital Myotonic MD**
see pics
## Footnote
**NOTE: diaphragm**
70
Emery-Dreifuss MD
## Footnote
**similar to DMD how?**
PRO defect
71
Emery-Dreifuss MD
## Footnote
**Clinical features**
**\*vary widely**
* **Contractures→** Post neck, elbow, ankle
* **Weakness→** mm's of humerous, those innervated by peroneals
* **presents late childhood→teenager**
* **Cardiac→** anomalies/arrhythmias
* halter mon, pacemakers
72
Emery-Dreifuss MD
## Footnote
**PT:**
contracture mgmt and strengthening
73
Emery-Dreifuss primary mm's effected think….
**Ant Tib weakness====== Footdrop \*\*\*\***
**plus the rest**
74
Limb-Girdle MD
* X-linked recessive
* **Weakness/mm wasting→** shoulder and pelvic girdles FIRST
* SLOW progression
* **assoc'd w/ cardiac probs later**
75
Limb-Girdle primary mm's effected
***remember shoulder and pelvic girdles FIRST*****\*\*\***
see pics
76
MM Weakness MD Chart
Duchenne/Becker vs Emery-Dreifuss vs Limb-Girdle vs Fascioscapulohumeral
77
MD Summary
* MDs are an expansive group of **typ. progressive disorders** predominantly effecting **voluntary mm's**
* PTs play a major role in care and mgmt of this pop of pts from **infancy→ adulthood**
78
Name that **MD Type**
Duchenne and Becker MD
79
Name that **MD TYPE**
Emery-Dreifuss MD
80
Name that **MD TYPE**
Limb-Girdle MD
81
Name that **MD TYPE**
Fascioscapulohumeral MD
