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Peds > Muscular Dystrophy and Related Disorders > Flashcards

Muscular Dystrophy and Related Disorders Flashcards

1
Q

Neuromuscular diseases include? (3) Examples? (3), (1), (2)

A
  • Disorders of the motor nerve (anterior horn cell and peripheral nerve)
    > Polio, CMT, ALS
  • Disorders at the neuromuscular junction
    > Myesthenia Gravis
  • Disorders of the muscle
    > Muscular Dystrophy and Spinal Muscular Atrophy
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2
Q

MD, and SMA are characterized by? (7)

A
  • Progressive Weakness
  • Muscle Atrophy
  • Contracture Formation
  • Progressive Disability
  • At times shortened lifespan
  • Usually have a genetic origin
  • Not curable but TREATABLE
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3
Q

MD types? (5) Their onsets? How are the 1st two linked? Progression?

A
  • Duschenne: Onset 1-4 years, x-linked, rapid progression
  • Becker: Onset 5-10 years, x-linked, slower progression
  • Congenital: Onset Birth, recessive, slow progression, shortened life-span
  • Congenital Myotonic: Onset Birth, slow progression with significant intellectual impairment
  • Facioscapulohumeral: Onset in 1st decade, slow progression, late loss of ambulation, variable life expectancy
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4
Q

SMA types? (4) Describe each

A
  • SMA type 1: also known as Werdnig-Hoffman Acute. Onset at 0-3 months, Recessive, Severe hypotonia, death within 1st year
  • SMA type 2: AKA Werdniq-Hoffman Chronic, Onset 3mo-4years, Recessive, Rapid progression, then stabilizes, moderate to severe hypotonia, shortened lifespan, slim and scoliotic, don’t stand
  • SMA type 3: AKA Juvenile onset, 5-10 years, Recessive, Slow progression, milder impairments
  • SMA type 4: Adult onset
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5
Q

Duchenne Muscular Dystrophy is? Child becomes? Morbidity related to? How is it linked? (2)

A
  • Dystrophinopathy mutation in the gene coding for the protein dystrophin
  • Child becomes progressively weaker
  • Morbidity related to respiratory insufficiency and/or heart failure
    X-linked inheritance pattern
  • Male offspring inherit the disease from their asymptomatic mothers
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6
Q

Duchenne Muscular Dystrophy - mutations can be? How do you know?

A
  • New mutation (spontaneous occurrence without family history of DMD) rate of approx. 1 in 10,000. Thus 1/3 of cases are new mutations.
  • Genetic marker: abnormal gene on the x chromosome at band Xp21.2 which encodes for dystrophin
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7
Q

DMD - absence of dystrophin leads to? Causes?

A
  • Absence of dystrophin leads to a reduction in all of the dystrophin-associated proteins in the muscle cell membrane
  • Causes a disruption in the linkage between the subsarcolemma cytoskeleton and the extracellular matrix
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8
Q

Diagnosis of DMD? (4)

A
  • Blood Work: Creatine Kinase (CK) levels in the blood are significantly elevated, 100x in the early stages of the disease and are elevated even at birth.
  • Genetic Testing: by blood work $$$$
  • Muscle Biopsy: specimens show degeneration and loss of fibers, increased fat and connective tissue
  • EMG: Electromyography shows low amplitude, short duration polyphasic motor unit action potentials
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9
Q

DMD clinical presentations? (5)

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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10
Q

Medical Management - pre-natal care? Early diagnosis? Nutritional mgmt? Orthopedic? Cardiopulm?

A
  • Pre-Natal Care: Genetic Counseling for families with history, possible in utero testing
  • Early Diagnosis: CK levels, genetic testing, biopsy
  • Nutritional Management: Obesity is a significant problem, bone health issues
  • Orthopedic Management: Lengthening of contractures, Spinal stabilization for scoliosis
  • Cardiopulmonary Management: Including pulmonary function testing (around time they lose ambulation ~10 yo)
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11
Q

Clinical Progression - weakness is? Proximal muscles tend to? Spine? BOS? Development of? Functionally?

A
  • Weakness is steadily progressive
  • Proximal muscles tend to be weaker earlier in the course of the illness and to progress faster
  • Lumbar lordosis
  • Wide base of support with gait
  • Contracture development
  • Slow functional activities
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12
Q

Progression: 0-2? 3-5? 6-8? 9-11? Shouldn’t?

A
  • Birth to 2 years: late acquisition of milestones, especially walking
  • 3-5 years: toe walking,clumsiness, pseudohypertrophy of calves, Gower’s Sign
  • 6-8 years: toe walking, lordosis, inability to climb stairs without assistance, wide based waddling gait, can not rise from floor without help.
  • 9-11 years: night stretching, scoliosis,may have orthopedic surgery, beginning respiratory insufficiency
  • shouldn’t brace bc impairs how they walk
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13
Q

Progression: 12-14? 15-17? 18+?

A
  • 12-14 years: Loss of ambulation, increased respiratory difficulties, obesity, contractures, progression of scoliosis, dependant for transfers, needs assist with ADL’s
  • 15-17 years: Dependant in most ADL’s, may need assisted ventilation
  • 18+ years: Totally dependant, assisted ventilation, death comes after a period of declining respiratory function
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14
Q

When do they usually stop taking Prendisone?

A

12-14 bc that’s around when they stop ambulating

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15
Q

Scoliosis develops how? What kind of curves? They’re noticed when? Progress as? Over time?

A
  • Scoliosis develops as the age of the child with DMD increases
  • Significant curves are generally not noticed until after the age of 11 years
  • Progress as the back muscles become weaker and as the child spends less time standing and more time sitting
  • Over time, becomes fixed
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16
Q

Respiratory effects? (3) Major cause of respiratory complications is?

A
  • Respiratory musculature atrophies
  • Coughing becomes ineffective
  • Pulmonary infections become more frequent
  • The major cause of respiratory complications in DMD is the progressive weakness of the muscles of respiration
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17
Q

Deficiency of dystrophin resulting in? (4) When does it occur?

A
  • cardiomyopathy, arrhythmias, and congestive heart failure
  • The posterobasal portion of the left ventricle is affected more than other parts of the heart
  • Heart muscle involvement generally occurs later than skeletal muscle involvement
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18
Q

Cognitive effects? Progressive? IQ scores fall? What’s more affected?

A
  • A high rate of intellectual impairment and emotional disturbance
  • This deficit is not progressive and is not related to the severity of disease
  • IQ scores fall approximately 1 SD below the mean
  • Verbal scores affected more than performance scores
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19
Q

Proper treatment can? Other tx? Prolong?

A
  • prolong quality of life
  • Parental counseling in an attempt to reduce the guilt, hostility, fear, depression, hopelessness, and numerous other emotions commonly experienced by the parents
  • Prolong ambulation and more closely approximate the normal independence of later childhood with physical therapy and application of braces
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20
Q

Pharmacological tx? (5)

A
  • Glucocorticoid corticosteroids (prednisone, prednisone, and deflazacort) have been shown to increase strength and improve function for 6 months to 2 years
  • Creatine monohydrate (natural body-building substance)
  • Investigation of myoblast transplant with the aim of replacing the missing protein dystrophin
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21
Q

Best medical tx?

A

Exon skipping

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22
Q

Orthopedic Treatment Indications - spinal?

A

Spinal fixation recommended when scoliosis begins to progress rapidly and spinal curve exceeds 30°

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23
Q

Orthopedic Treatment Indications - other? (6)

A

Pelvic obliquity, difficulty with bracing, skin breakdown, discomfort and decreased tolerance to sitting, and difficulty using upper extremities secondary to lack of trunk stability requiring propping on arms

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24
Q

Orthopedic txs? (4)

A

Achilles tendon lengthening, fasciotomies, tibialis posterior transpositions, and percutaneous tenotomies in an attempt to increase joint range of motion for prolongation of ambulation

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25
Q

Pulmonary Treatment? (3)

A
  • Nasal positive pressure ventilation at night to assist breathing and to provide a rest for overworked respiratory muscles
  • An adjustment period is often necessary, but after a period of time the patient often derives the benefits of improved sleep and increased energy and alertness in the daytime
  • Ventilatory assistance might be required both day and night for children with advanced respiratory failure
26
Q

Cardiac Treatment? (3)

A
  • Regular cardiac echocardiogram (ECHO) and electrocardiogram (ECG or EKG) monitoring
  • Cardiac medications for arrhythmias may be necessary
27
Q

3 phases of presentation?

A
  • Early or 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
28
Q

Tests and Measures - functional abilities? (5)

A
  • Stable performance or declining performance
  • Assessing strength, pulmonary function, and functional tasks in combination
  • PEDI
  • 6 minute walk test
  • Brooks grades for UE – Vignos for LE
29
Q

Brooks and Vignos - good grade = ?

A

the lower, the better

30
Q

ROM presentations? (3) Result in?

A

Loss of full ankle dorsiflexion, knee extension, and hip extension, with resultant contractures (TFL most common)

31
Q

Goals for Physical Therapy? (1-4)

A

Prevent deformity
Splinting and positioning
Improve pulmonary function
Respiratory aids

32
Q

How do you prolong functional capacity? (5)

A
  • Normal age-appropriate activity
  • Avoidance of maximal resistive strength training and eccentric exercise is recommended for boys with DMD
  • Submaximal, endurance training such as swimming or cycling
  • Orthopedic surgery for ambulation
  • Standard or power wheelchair use
33
Q

Goals for Physical Therapy - facilitate? Control? (3)

A
  • Facilitate the development and assistance of family support and support of others
  • Control pain
  • Management of pain should be minimal
  • Pain occurs at the limits of ROM in all joints due to contractures
34
Q

Therapeutic Interventions? (8)

A 
Prevention of Contractures
Exercise to maintain maximal function
Prevention of Obesity
Maintenance of Ambulation
Respiratory Care
Adaptive Equipment and Bracing
Transition to Wheelchair
Address Psychosocial issues
35
Q

Physical Therapy Intervention? (5)

A
  • Home program is essential
  • Stretching
  • Weight control
  • Controlled weight reduction improves mobility and self-esteem
  • Better to prevent excessive weight gain in the young, ambulatory child than to initiate severe dietary restriction in an obese, seated adolescent
36
Q

Exercise and Neuromuscular Disease - All Patients should be advised? Should be aware of? (6)

A
  • not to exercise to the point of exhaustion due to the risk of muscle damage
  • Patients in exercise programs should be aware of the signs of overwork weakness
  • Feeling weaker rather than stronger 30 minutes after exercise
  • Excessive DOMS 24-48 hours after exercise
  • Severe muscle cramping\
  • Heaviness in the extremities
  • Prolonged shortness of breath
37
Q

Strength Training can be? What’s been found to increase strength? Very susceptible to?

A
  • prescribed but use caution and a common sense approach
  • In slow progressing NMD a 12- week strengthening program with 30% MCV have been found to increase strength 4-20% with harmful effects]
  • REMEMBER: Dystrophin deficient muscle is very susceptible to exercise induced muscle injury SO BE CAUTIOUS
38
Q

Aerobic exercise can? Types? (5) Improves?

A
  • help improve cardiovascular performance and increase muscle efficiency thus help fight fatique
  • Gentle low impact exercise, walking, swimming, stationary bike, UBE
  • Improves physical function as well as may help in fighting depression, maintaining body weight and improving pain tolerance
39
Q

What is Myotonic Dystrophy (MTD)? Symptoms are? Then? Presentation with c/o? Many pts also have? (4)

A
  • Autosomal dominant disorder whose location is on chromosome 19
  • Symptoms are first noticed during adolescence and are characterized by myotonia, a delay in muscle relaxation time, and muscle weakness
  • As the weakness progresses, the myotonia decreases
  • Presentation to the clinic with complaints of weakness and stiffness
  • Many patients also have cognitive impairment, cataracts, diabetes cardiac arrhythmias
40
Q

MDT typical presentation? (3)

A

Facial presentations, problem with speech bc of cognition and muscle weakness

41
Q

Limb Girdle Muscular Dystrophy is a? Initial presentation? Underlying pathology? Presentation? (2)

A
  • A group of progressive muscular dystrophies that affect the proximal musculature
  • The initial presentation can be quite variable extending from early childhood into adulthood
  • The underlying pathology of LGMD is quite heterogeneous
  • Gower to get up from chair, waddling gait
42
Q

Congenital Myopathy is a? Results from? Characterized by? (2)

A
  • A group of diseases including nemaline myopathy, central core myopathy, and centronuclear (myotubular) myopathy
  • Results from abnormalities of the sarcomeric proteins
  • Characterized by weakness and muscle atrophy that typically presents at birth
43
Q

Congenital Muscular Dystrophy - can be? Types? (4)

A
  • Those with central nervous system involvement and those without central nervous system involvement
  • Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and muscle-eye-brain disease all demonstrate muscle, brain, and eye abnormalities
44
Q

Spinal muscular atrophy is a? Results in?

A
  • disorder that is manifested by a loss of anterior horn cells
  • Results in a phenotypic spectrum of disease states that have been divided into three types of SMA based on a functional classification system
45
Q

Types of SMA? (3)

A
  • SMA type I, (Werdnig-Hoffman disease)
  • SMA type II
  • SMA type III (Kugelberg-Welander disease)
46
Q

SMA I aka? Noted when? Mom c/o? At birth, kid is? What do you see? (2)

A
  • Noted within the first 3 months of life
  • Mother complains of decreased fetal movement during her pregnancy
  • At birth, the affected child is hypotonic and may have difficulty feeding
  • Muscle wasting is often severe, and spontaneous movements are infrequent and of small amplitude
  • Presents with a head lag on pull to sit and will drape over the examiner’s hand when a Landau is performed
47
Q

Spinal Muscular Atrophy Type II affects how? Presentation is? Characterized by? (5) May learn?

A
  • Affects infants but is more benign than SMA type I
  • Presentation is later in the first year of life when the child is not pulling to stand
  • Characterized by weakness and wasting of the extremities and trunk musculature
  • Fasciculations are common on examination of the tong in these patients
  • Fine tremor when the child attempts to use the limbs
  • Mini-polymyoclonus
  • May learn to walk with bracing
48
Q

SMA III aka? Symptoms of? (3) Age of presentation? What’s involved first?

A
  • (Kugelberg-Welander Disease)
  • 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 muscles are usually involved first, and because of the age of presentation, this disease may be confused with the muscular dystrophies
49
Q

SMA III DTR are? Diagnosis is? Genetic testing will show?

A
  • Deep tendon reflexes are decreased, but contractures are unusual, and progressive spinal deformities are uncommon as long as the child remains ambulatory
  • Diagnosis is established on the basis of the clinical picture and the results of diagnostic laboratory studies, including an electromyogram and muscle biopsy, which show denervation as in the other forms of SMA
  • Genetic testing will show a deletion of the SMN gene on the fifth chromosome
50
Q

SMA prognosis can be aided by? Which have poorer prognosis? If symptoms begin after 2? Prior to 2?

A
  • Can be aided by a good developmental history
  • Symptoms that begin prior to 2 years of age have a relatively poorer prognosis
  • If symptoms begin after 2 years of age, on average patients continue to ambulate until 44 years of age
  • If symptoms begin prior to 2 years of age, ambulation is maintained until an average of 12 years of age
51
Q

Tx focuses on? Pts need to be? What can be helpful?

A
  • Treatment focuses on the maintenance of function and flexibility
  • Patients need to be braced appropriately while they are still ambulating and for standing after they stop ambulating
  • Standers can be helpful to maintain flexibility and bone stock through a standing program
52
Q

Charcot-Marie-Tooth disease (CMT) is? AKA? Comprises of?

A
  • one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States.
  • CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy,
  • comprises a group of disorders that affect peripheral nerves
53
Q

CMT caused by? CMTA1A is an? Overexpression causes? Pts experience?

A
  • abnormalities in the myelin sheath.
  • CMT1A is an autosomal dominant disease that results from a duplication of the gene on chromosome 17 that carries the instructions for producing the peripheral myelin protein-22 (PMP-22). The PMP-22 protein is a critical component of the myelin sheath.
  • Overexpression of this gene causes the structure and function of the myelin sheath to be abnormal.
  • Patients experience weakness and atrophy of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss.
54
Q

CMT causes?

A

Decreased nerve conduction

55
Q

CMT A typical feature includes? (8)

A
  • weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls.
  • Foot deformities, such as cavus or cavo-varus and hammertoes are characteristic due to weakness of the small muscles in the feet.
  • The lower legs may take on an “inverted champagne bottle” appearance due to the loss of muscle bulk.
56
Q

CMT - later in the disease?

A

weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills

57
Q

Diagnosis of CMT begins with ? Look for? Other?

A
  • a standard medical history, family history, and neurological examination.
  • During the neurological examination look for evidence of muscle weakness in the individual’s arms, legs, hands, and feet, decreased muscle bulk, reduced tendon reflexes, and sensory loss. (touch, position sense, vibration)
  • Nerve conduction studies and electromyography (EMG)
58
Q

PT & OT for CMT involves? (3) It is suggested? Recommend hat type of exercise?

A
  • involves muscle strength training, muscle and ligament stretching, and moderate aerobic exercise.
  • It is suggested entering into a treatment program early; muscle strengthening may delay or reduce muscle atrophy, so strength training is most useful if it begins before nerve degeneration and muscle weakness progress to the point of disability.
  • Recommend low-impact or no-impact exercises, such as biking or swimming, rather than activities such as walking or jogging, which may put stress on fragile muscles and joints.
59
Q

Patients with CMT must be careful about? Common areas for? Shoe wear must be? At time, what is worn?

A
  • caring for their feet and toes, often a podiatrist may be involved to keep toes and toe nails in good condition and work with callous formation
  • Common areas for increased pressure and callous formation is on the lateral border of the foot and heel, the head and base of the 5th metatarsal
  • Shoe wear must be carefully chosen with a high toe box to accommodate the hammer/claw toes
  • At times orthotics are worn in the shoes to accommodate the pes cavus and equally distribute pressure on the foot.
60
Q

Many CMT patients require? (2) ADs should be used when? Some individuals with CMT may decide to?

A
  • AFO’s other orthopedic devices to maintain everyday mobility and prevent injury.
  • Thumb splints can help with hand weakness and loss of fine motor skills.
  • Assistive devices should be used before disability sets in because the devices may prevent muscle strain and reduce muscle weakening.
  • Some individuals with CMT may decide to have orthopedic surgery to reverse foot and joint deformities. Tendon transfers and lengthening

Peds (7 decks)

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