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Pediatrics > Neuromuscular Disorders in Childhood > Flashcards

Neuromuscular Disorders in Childhood Flashcards

1
Q

What is the pathophysiology of SMA?

A
  • Autosomal recessive
  • SMN (Survival Motor Neuron) plays a role in the function of all cells, mediating the assembly of a set of proteins that associate with RNA
  • Portion of their alpha motor neurons undergo apoptosis
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2
Q

SMA Type I (Werdnig - Hoffmann Disease)

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

SMA Type II

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
  • weakness and wasting of the extremities and trunk
  • Fasciculations are common on examination of the tone in these patients
  • Fine tremor when the child attempts to use the limbs
  • Mini-polymyoclonus
  • May learn to walk with bracing
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4
Q

SMA Type III (Kugelberg-Welander Disease)

A
  • progressive weakness, wasting, fasiculations
  • age of presentation: toddler years into adulthood (would be classified as type IV)
  • proximal mm first
  • may be confused with DMD due to age of presentation
  • DTR are decreased
  • contracutres are unusual
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5
Q

How is SMA Type III diagnosed?

A
  • clinical picture
  • diagnostic studies: electromyogram, muscle biopsy (show denervation) –> also for other types
  • genetic testing: deletion of SMN gene on 5th chromosome
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6
Q

What is the progronosis of SMA?

A
  • aided by good developmental history
  • s/s that begin prior to age 2 have poorer prognosis; ambulation until 12 yrs
  • s/s after 2 yrs: pts ambulate until 44 yrs of age
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7
Q

What is the treatment of SMA?

A
  • maintenance of function and flexibility
  • pts need to be braced while ambulating and for standing
  • standers
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8
Q

Charcot-Marie-Tooth (CMT) Disease

A
  • hereditary motor and sensory neuropathy
  • slowly progressive
  • affects peripheral nerves
  • causes sensory loss, weakness, muscle wasting
  • distal musculature of feet, lower legs, hands, forearms
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9
Q

Interventions for CMT

A
  • PT: improve strength, ROM, and functional activities
  • Orthotic assessment and Rx can improve gait and functional activities
  • custom braces can help decrease energy expenditure
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10
Q

This deficit of DMD is not progressive and is not related to the severity of disease.

A

Cognitive deficit; Overall, pts are cognitively functional.

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11
Q

Common goals of treatment for pts w/ DMD (2):

A

Promote ambulation as long as possible, keep patients upright and vertical.

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12
Q

Medical treatment of DMD: ____ have been shown to increase strength & to improve function for 6 months to 2 years.

A

Glucocorticoid corticosteroids

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13
Q

Name other developing medical therapies for DMD (5):

A

Creatine monohydrate, gene therapy, cell therapy, mutation-specific medication, & dystrophin substitution

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14
Q

Spinal fixation recommended when scoliosis begins to progress rapidly and spinal curve exceeds ___ degrees.

A

30

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15
Q

Use of ____ ventilation at night assists with breathing & provides a rest for overworked respiratory muscles

A

Nasal positive pressure

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16
Q

Cardiac treatment for pts w/ DMD:
Regular cardiac echocardiogram (ECHO) & electrocardiogram (ECG or EKG) monitoring.
Cardiac medications for ____ may be necessary. Pts may need heart transplantation for ___ cardiomyopathy

A

arrhythmias, dilated

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17
Q

For pts w/ DMD, a GI specialist may be needed to monitor for (3):

A

constipation issues, intestinal pseudo-obstruction, weight gain prevention

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18
Q

Three phases of presentation in regards to mobility:

A
  1. Early or ambulatory stage
  2. Transitional phase during loss of ambulation
  3. Later wheelchair stage
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19
Q

Neuomuscular diseases encompass disorders whose primary pathology affects…..

A

any part of the motor unit from anterior horn cells to the muscle itself

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20
Q

Are neuromuscular diseases acquired or hereditary?

A

Both

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21
Q

What is the most common symptom involved with neuormuscluar diseases?

A

Weakness

22
Q

What is muscular dystrophy?

A

A group of muscle diseases that are genetically determined

- Steadily progressive degenerative course

23
Q

What is the classification of muscular dystrophy based on?

A

Gene deficiencies

24
Q

What is spinal muscle atrophy (SMA)?

A

Neurogenic disorders whose underlying pathology affect sensory and spinal interneurons and as a result anterior horn cells
(Muscle wasting and the inability to control limbs)

25
Q

In SMA, where is the pathology located?

A

The pathology is in the muscle.

Can consist of: Myopathy or dystrophy

26
Q

What s motor neuropathy? Example?

A
  • A group of neurogenic disorders whose underlying pathology affects the peripheral nerves
  • Charcot-Marie-Tooth (CMT) disease (intrinsics and formation of foot affected)
27
Q

What gender is affected by Duchenne Muscular Dystrophy (DMD)?

A

Male

  • X-linked inheritance pattern
  • Males inherit the disease from their asymptomatic mothers
28
Q

How is DMD diagnosed?

A

Muscle biopsy

29
Q

How does a child with DMD progress?

A

They become progressively weaker

30
Q

What is the mechanism of injury for DMD?

A

Dystrophinopathy mutation in the gene coding for the protein dystrophin
(Dystrophin - a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane)

31
Q

What are some ways to diagnose DMD?

A
  • Clinical findings
  • Laboratory studies
  • EMG
  • Muscle biopsy (Most objective)
  • Genetic testing (Most objective)
32
Q

Explain the pathophysiology of DMD.

A
  • Dystrophin - a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane)
  • 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
33
Q

Describe the clinical presentation of DMD.

A
  • Symptoms between 2-5 years of age
  • Symptoms may not be noticed for months or years, and the disease may be misdiagnosed for years
  • Reluctance to walk or run at appropriate ages, falling, difficulty getting up off the floor, toe walking, clumsiness, and an increase in size of several groups of muscles
  • Pseudohypertrophy in calves
34
Q

What are 2 of the biggest obstacles for a patient with DMD?

A

climbing a step and running to do quad weakness

35
Q

What 5 areas are examined to test functional abilities in DMD?

A

1) Stable performance or declining performance
2) Strength
3) pulmonary function (key)
4) functional tasks in combination
5) Times testing for monitoring function

36
Q

What testing should be a routine part of PT in evaluation of the child with myopathy?

A

MMT

37
Q

T/F: There is a correlation between rate of decline and use of wheelchair in DMD.

A

FALSE!

38
Q

What systems have been used in attempts to better quantify muscle strength in boys with DMD?

A

Handheld myometry and various fixed tensiometer systems

39
Q

ROM Measurement of these 3 areas in DMD are the most important aspects of goniometric testing.

A

ankle dorsiflexion, knee extension, and hip extension

40
Q

What are the 8 main PT problems in DMD?

A

1) Weakness
2) Decreased active and passive ROM
3) Loss of ambulation
4) Decreased functional ability
5) Decreased pulmonary function
6) Emotional trauma—individual and family
7) Progressive scoliosis
8) Pain

41
Q

In DMD, what are 7 main goals for PT?

A

1) Prevent deformity
2) Improve pulmonary function
3) Prolonging ambulation
4) Prolong functional capacity
5) Faciltate developmental assistance of family support & support of others
6) Control pain
7) ADLs

42
Q

Avoidance of maximal ______ _____training and _____ exercise is recommended for boys with DMD.

A

resistive strength; eccentric

43
Q

What type of exercise is recommended for boys with DMD?

A

Submaximal, endurance training such as swimming or cycling

44
Q

Clinical Progression of DMD

A
  • weakness steadily progressive
  • Proximal muscles (quads) tend to be weaker earlier
  • Lumbar lordosis
  • Wide BOS
  • Contracture development
  • Slow functional activities
45
Q

What is Gowers Sign

A

pushing self up with hands successively on the floor, knees and then thighs because of weakness in glutes

46
Q

What develops as the age of the child with DMD increases

A

Scoliosis

47
Q

At what age are scoliotic curves generally noticed

A

Not noticed until after 11 years of age

48
Q

What happens to their respiratory system in those with DMD

A
  • Respiratory musculatrue atrophies
  • Coughing becomes ineffective
  • Pulmonary infection more frequent
  • Progressive weakness of muscles of respiration
  • High degree of aspirating
49
Q

What happends with the GI tract in those with DMD

A
  • Muscle of GI tract are affected
  • Causing constipation and risk of acute gastric dilation or intestinal pseudo-obstruction
  • Sudden episodes of vomiting, ab pain, and distension
50
Q

What are some Cardiac issues related to DMD

A

Deficiency of dystrophin resulting in cardimyopathy, arrhythmias, and CHF
-Heart muscle involvement ocurs later than skeletal muscle involvement
-

Pediatrics (13 decks)

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