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Peds > Muscular Dystrophy and Related Disorders > Flashcards

Muscular Dystrophy and Related Disorders Flashcards

1
Q

Disorders of motor nerve

A

Polio
CMT
ALS

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2
Q

Disorders of NMJ

A

Myasthenia Gravis

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3
Q

Disorders of mm

A 
Muscular Dystrophy (MD)
Spinal Muscular Atrophy (SMA)
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4
Q

MD and SMA Characterized by…

A 
Progressive weakness
Mm atrophy
Contracture formation
Progressive disability
Sometimes shortened lifespan
Usually of genetic origin
Not curable, but treatable
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5
Q

Duchenne MD

A

Onset 1-4

X-linked - male offspring inherit the disease from their asymptomatic mothers

Rapid progression

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6
Q

Becker MD

A

Onset 5-10

X-linked

Slower progression

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7
Q

Congenital MD

A

Onset birth

Recessive

Slow progression

Shortened lifespan

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8
Q

Congenital Myotonic

A

Onset birth

Slow progression

Significant intellectual impairment

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9
Q

Fascioscapulohumeral MD

A

Onset 1st decade

Slow progression

Late loss of ambulation

Variable life expectancy

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10
Q

SMA type 1

A

Aka Werdnig-Hoffman Acute

Onset 0-3 mos

Recessive

Severe hypotonia

Death within 1st year

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11
Q

SMA type 2

A

Aka Wednig-Hoffman Chronic

Onset 3 mos-4 years

Recessive

Rapid progression then stabilizes

Moderate to severe hypotonia

Shortened lifespan

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12
Q

SMA type 3

A

Aka juvenile onset

5-10 years

Recessive

Slow progression

Milder impairments

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13
Q

Dystrophinopathy mutation

A

DMD

In gene coding for the protein dystrophin

Mm doesn’t hold together well
-Causes a disruption in the linkage btwn the subsarcolemma cytoskeleton and extracellular matrix

Eventually becomes fibrous, fatty, and non-contractile

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14
Q

DMD Morbidity

A

Related to respiratory insufficiency and/or heart failure

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15
Q

1/3 of DMD cases…

A

Spontaneous mutations

Rate of approx 1 in 10,000

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16
Q

DMD dx

A

Blood work…

CK levels are significantly elevated

Genetic testing…

By blood work $$$

Mm biopsy…

Specimens show degeneration and loss of fibers, increased fat and connective tissue

EMG…

Low amplitude, short duration polyphasic motor unit action potentials

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17
Q

Clinical Presentation DMD

A

Possible delayed onset of motor milestones, especially late walking

Tripping, falling, poor ability to run or resistance to running, inability to keep up with peers

Toe walking

Pseudohypertrophy of the calves

Progressive weakness

Lordosis

Waddling gait

Gower’s Sign

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18
Q

Toe walking

A

CP
ASD
DMD

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19
Q

Medical Management DMD

A

Prenatal care - genetic counseling

Early dx - CK levels

Nutritional management - obesity is a significant problem

Orthopedic management - contracture lengthening, spinal stabilization

Cardiopulmonary management - including PFT (when ambulation decreases, this problem gets worse)

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20
Q

Prednisone

A

Kids that take this have some preservation of cardiopulmonary function

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21
Q

DMD

Birth to 2 years

A

Late acquisition of milestones, especially walking

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22
Q

DMD

3-5 years

A

Toe walking
Clumsiness
Pseudohypertrophy of calves
Gower’s Sign

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23
Q

DMD

6-8 years

A 
Toe walking
Lordosis
Inability to climb stairs sans assistance
Wide-based waddling gait
Can't rise from floor sans help
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24
Q

DMD

9-11

A

Walks with braces - controversial
Scoliosis
May have orthopedic surgery
Beginning respiratory insufficiency

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25
Q

DMD

12-14 years

A 
Loss of ambulation
Increased respiratory difficulties
Obesity
Contractures
Progression of scoliosis
Dependent for transfers
Needs assist with ADL's
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26
Q

DMD

15-17 years

A

Dependent in most ADLs

May need assisted ventilation

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27
Q

DMD

18+ years

A

Totally dependent
Assisted ventilation
Death comes after a period of declining respiratory fx

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28
Q

Scoliosis DMD

A

Develops as the age of the child with DMD increases

Significant curves are generally not noticed until after 11 years of age

Increases with more sitting time

Becomes fixed over time

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29
Q

Respiratory DMD

A

Respiratory musculature atrophies

Coughing becomes ineffective

Pulmonary infections become more frequent

Major cause is progressive weakness of these mm

30
Q

Cardiac DMD

A

Dystrophin deficiency results in cardiomyopathy, arrhythmias, and CHF

Posterobasal portion of left ventricle more affected than other parts

Heart mm involvement generally occurs later than skeletal mm involvement

31
Q

Cognition DMD

A

High rate of intellectual impairments

This deficit not progressive and not related to disease severity

IQ scores fall approx 1 SD below mean

Verbal scores affected more than performance scores

32
Q

Importance of treatment

DMD

A

Proper tx can prolong QOL

Parental counseling

Prolong ambulation

Any tx most optimal the better the pt’s physical condition is

33
Q

Glucocorticoid corticosteroids

DMD

A

Prednisone

Deflazacort - less SEs, not FDA approved

34
Q

Creatine monohydrate

A

Natural body-building substance

Increases in mm levels of creatine and improvements in maximal exercise performance and recovery from exercise in healthy subjects

35
Q

Orthopedic tx

DMD

A

Spinal fixation when scoliosis exceeds 30-degrees

Pelvic obliquity

Achilles tendon lengthening
Fasciotomies
Tib post transpositions
Percutaneous tenotomies

36
Q

Pulmonary tx

DMD

A

Nasal positive pressure ventilation at night to assist breathing and to provide a rest for overworked respiratory mm

37
Q

Cardiac tx

DMD

A

ECHO and ECG monitoring

Cardiac medications for arrhythmias may be necessary

38
Q

3 phases of DMD presentation

A

Early of ambulatory stage

Transitional phase during loss of ambulation

Later/wheelchair stage when the child or young adult is wheelchair bound and dependent for most of his functional activities

39
Q

Functional T + M

DMD

A

Stable performance or declining performance

Assessing strength, pulmonary function, and functional tasks in combination

PEDI

6MWT***

Brooks grades for UE
VIgnos for LE

40
Q

MMT for DMD

A

Must be a routine part of the PT eval of the child with myopathy

No correlation btwn rate of decline and wheelchair use

Hand-held myometry and various fixed tensiometer systems have been used in attempts to better quantify mm strength in boys with DMD

41
Q

ROM in DMD

A

Loss of…

Full ankle DF
Knee extension
Hip extension

***Important to measure

42
Q

Bracing at night

A

Important

Kids should get 4-6 hours of prolonged stretch in evening or when they are asleep

43
Q

AVOID in DMD

A

Maximal resistive strength training

Eccentric exercise

44
Q

GOOD for DMD

A

Submax exercise

Endurance training - swimming, cycling

45
Q

Primary goal as PTs when working with pts with DMD

A

Maintenance of ambulation

46
Q

Signs of overwork weakness in pts with DMD

A

Feeling weaker rather than stronger 30 min after exercise

Excessive DOMS 24-48 hours after exercise

Severe mm cramping

Heaviness in the extremities

Prolonged SOB

47
Q

Myotonic Dystrophy (MTD)

A

Autosomal dominant disorder on chromosome 19

Symptoms first noticed during adolescence and are characterized by myotonia, a delay in mm relaxation time, and mm weakness

As weakness progresses, myotonia decreases

Many pts also have cognitive impairment, cataracts, diabetes, and cardiac arrhythmias

These guys need very close medical management

48
Q

DMD and assistive devices

A

Don’t really benefit

Usually go from walking to wheelchair

49
Q

DMD Knee Flexion Extension Curve

A

When ambulation almost lost, the first loading response starts to disappear

Once this occurs, they lose their ambulation within about 6 mos

50
Q

Myotonia

A

Difficulty to relax muscles

51
Q

Percussion myotonia

A

If you hit the mm bellies, they will contract

52
Q

Limb Girdle Muscular Dystrophy

A

Group of progressive mm dystrophies that affect PROXIMAL musculature

Initial presentation can be quite variable extending from early childhood into adulthood

Heterogeneous

Gower to get up from chair
Waddling gait

53
Q

Congenital Myopathy

A

A group of diseases including nemaline myopathy, central core myopathy, and centronuclear myopathy

Results from abnormalities of sarcomeric proteins

Characterized by weakness and mm atrophy that typically present at birth

54
Q

Mm, brain, and eye abnormalities

A

Fukuyama CMD
Walker-Warburg syndrome
Muscle-eye-brain disease

55
Q

SMA

A

Manifested by a loss of anterior horn cells

Results in phenotypic spectrum of disease states that have been divided into three types based on a functional classification system

56
Q

Clinical Presentation

SMA type 1

A

Mother complains of decreased fetal movement during her pregnancy

At birth, the affected child is hypotonic and may have difficulty feeding

Mm wasting often severe and spontaneous movements are infrequent and of small amplitude

Head lag
Landau drape over examiner’s hand

57
Q

Clinical Presentation

SMA type 2

A

Affects infants, but is more benign than type 1

Presentation later in the first year of life when child is not pulling to stand

Characterized by weakness and wasting of extremities and trunk musculature

Fasciculations are common

Mini-polymyoclonus

May learn to walk with bracing

58
Q

Clinical Presentation

SMA type 3

A

Symptoms of progressive weakness, wasting, and fasciculations

Age of presentation can vary from the toddler years into adulthood, the latter of which some would classify as type IV

Proximal mm are usually involved first and because of age of presentation, this disease may be confused with the MDs

Decreased DTRs

Contractures unusual

Progressive spinal deformities uncommon as long as child remains ambulatory

Genetic testing will show a deletion of SMN gene on fifth chromosome

59
Q

Pts with DMD

A

Absent DTRs

60
Q

SMA Prognosis

A

Can be aided by a good developmental history

Symptoms that begin prior to 2 years of age have a relatively poorer prognosis (amb til around 12)

Symptoms after 2 years of age typically ambulate til 44

61
Q

CMTD

A

One of the most common inherited neurological disorders

aka Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal muscular atrophy

Primarily affect peripheral nerves

62
Q

CMT1

A

Caused by abnormalities in myelin sheath

63
Q

CMT1A

A

Autosomal dominant disease that results from duplication of gene on chromosome 17

PMP-22 important in myelin sheath

64
Q

CMTD Typical Presentation

A

Weakness of foot and lower leg mm

Foot deformities - cavus or cavo-varus and hammertoes

“Inverted champagne bottle” due to loss of mm bulk

Later on may occur in hands, which can affect fine motor skills

65
Q

CMTD Strength Training

A

Most useful if it begins before nerve degeneration and mm weakness progression to the point of disability

Low-impact or no-impact exercises recommended…
Biking, swimming

66
Q

CMTD Increased Pressure and Callus Formation…

A

Lateral border of foot and heel

Head and base of 5th MT

67
Q

CMTD Shoes

A

High toe box to accommodate hammer/claw toes

Orthotics can sometimes be used to accommodate pes cavus and equally distribute foot pressure

AFO’s can be used to maintain everyday mobility and prevent injury

68
Q

CMTD Thumb splints

A

Can help with hand weakness and loss of fine motor skills

69
Q

CMTD Assistive Device Use

A

Should be used before disability sets in because devices may prevent mm strain and reduce mm weakening

70
Q

Neuromm diseases include…

A

Disorders of motor nerve
Disorders of NMJ
Disorders of mm

Peds (25 decks)

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