Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Clinical Conditions II > Pediatric Neuromuscular Diseases > Flashcards

Pediatric Neuromuscular Diseases Flashcards

1
Q

Duchenne Muscular Dystrophy

A
  • X-linked, recessive, myogenic disorder characterized by:
  • Progressive muscle wasting and
  • Weakness
  • Pseudohypertrophy
  • Absence of dystrophin
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is Dystrophin?

A
  • Protein inside surface of the sarcolema
  • Links actin and other support proteins
  • Supports muscle fiber strength
  • Reduces stiffness
  • Increases sarcolemmal deformability
  • Prevents muscle fiber injury
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Signs and Symptoms of Duchenne Muscular Dystrophy

A
  • Variable phenotypic presentation
  • Progressive weakness (pseudohypertrophy)
  • Cardiomyopathy
  • Respiratory insufficiency
  • Gower’s Sign/Maneuver
  • Loss of independent ambulation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Pseudohypertrophy

A

As muscle breaks down it is replaced by adipose and fibrotic tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Cardiomyopathy

A
  • Cell membrane degradation
  • Interstitial inflammation
  • Edema
  • Fatty replacement
  • Fibrosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Respiratory Insufficiency

A

•Absolute forced vital capacity (FVC) values peaked around the age of 13–14 years of age: ~ 1 L

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Diagnosing Duchenne Muscular Dystrophy

A
  • Combination of testing and clinical presentation
  • Creatine Kinase
  • Muscle Biopsy –Staining to ID presence of dystrophin
  • Dystrophindeletion/duplication (genetic)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

DMD Stage 1: Presymptomatic

A
  • Can be diagnosed at this stage if creatine kinase found to be raised or if positive family history
  • Might show developmental delay but no gait disturbances
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

DMD Stage 2: Early Ambulatory

A
  • Gowers’ Sign
  • Waddling Gait
  • Might be toe walking
  • Can climb stairs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

DMD Stage 3: Late Ambulatory

A
  • Increasingly labored gait

- Losing ability to climb stairs and rise from floor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

DMD Stage 4: Early Non-Ambulatory

A
  • 11, 12, maybe 13 yo
  • Might be able to self propel for some time
  • Able to maintain posture
  • Might develop scoliosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

DMD Stage 5: Late Non-Ambulatory

A

Upper limb function and postural maintenance is increasingly limited

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Management of Individuals with DMD

A

Multidisciplinary

Assessments: systematic, objective, routine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Goals of Rehab- Stage 1 and 2

A
  • Education and support
  • Preventative measures to maintain muscle
  • Contracture prevention
  • Appropriate exercise/activity
  • Support for function and participation
  • Provision of assistive devices
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Goals of Rehab- Stages 3, 4, 5

A
  • Provision of assistive technology to maximize function, activity, and independence
  • Positioning
  • Mobility
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Medical Management of DMD

A
  • Glucocorticoids
  • Orthopaedic Surgery
  • Experimental Interventions
17
Q

Glucocorticoids for management of DMD

A 
•Slow Decline in Strength
•Prolonged Ambulation
•Decreased Risk of Scoliosis
•Stabilized Pulmonary 
Function
18
Q

Side Effects of Glucocorticoids

A 
•Cushingoid
•Growth Retardation
•Delayed Puberty
•Behavioral Changes
•Immune/Adrenal 
Suppression
•Hypertension
•Glucose Intolerance
•GERD
•Hirsutism
19
Q

Hallmark of scoliosis

A

restrictive airway disease –> mechanical defect due to scoliosis

20
Q

Gene Therapies for DMD

A
  • Nonsense Suppression
  • Exon Skipping
  • Gene Transfer
21
Q

Other Myelopathies

A
  • Becker MD
  • Limb-Girdle MD
  • Fascioscapulohumeral MD
  • Spinal Muscular Atrophy:
  • SMI 1
  • SMA2
  • SMA3
22
Q

Spinal Muscular Atrophies

A

• Primarily autosomal recessive; Characterized by lower motor neuron
disorder:
• Progressive muscle weakness
• Atrophy
• Hypotonia/areflexia
• Loss of anterior horn cells in the spinal cord

23
Q

Survival Motor Neurons

A
  • Gene creates SMN protein essential to maintain the integrity of motor neurons
  • Deletions or mutations in both copies of SMN1
  • An exonicsplicing suppressor (ESS) at position 6 of SMN2 leads to skipping of exon 7
  • Results in a trunkated, non-functional SMN protein
24
Q

Effect of SMN2 on Severity

A
  • Most patients with Type I SMA had 1 or 2 copies of SMN2
  • Most patients with Type II SMA had 3 copies of SMN2
  • Most patients with Type III SMA had 3 or 4 copies of SMN2
25
Q

SMA I Chart

A

Onset: 0-6 mo
Death: < 2 years
Motor Limits: No sitting

26
Q

SMA II Chart

A

Onset: 7-18 mo
Death: >2 years
Motor Limits: Usually does not stand

27
Q

SMA III Chart

A

Onset: > 18 mo
Death: Adult
Motor Limits: Stands and Walks

28
Q

SMA I- Infantile Werdnig-Hoffmann

A 
•60% of children with SMA
Features:
• Severe weakness at birth
• Profound hypotonia
• Frog legged posture
• Hyporeflexia/Areflexia
• Joint contractures
• Suck-swallow difficulties
• Poor head control
• Respiratory Failure
• Belly breathing
• Tongue fasciculations
29
Q

Type II- Intermediate - Dubowitz

A 
•27% of children with SMA
Features:
• Progressive proximal weakness/hypotonia
• LE’s > UE’s
• Postural hand tremor
• Hyporeflexia
• Average/Above average intellect
• Joint contractures
• Scoliosis and restrictive airway disease
30
Q

Type III - Kugelberg-Welander

A 
•12% of children with SMA
Features:
•May have hand tremor
•Mild progressive weakness
•LE’s > UE’s
•Resembles Becker Muscular 
Dystrophy
31
Q

Diagnosis of SMA

A 
•Carrier testing
•Genetic testing 
•Polymerase chain reaction (PCR)
•Multiplex ligation probe 
amplification (MPLA)
•Chromosome microarray (CMA)
•Serum creatine kinase
•Nerve conduction velocity
32
Q

Medical Management of SMA

A
  • Physical Medicine and Rehabilitation
  • Neurology
  • Orthopaedics
  • Physical Therapy
  • Occupational Therapy
  • Pulmonology
  • Nutrition
  • Gasteroenterology
33
Q

Restrictive Lung Disease

A 
•Intercostal weakness/spinal 
deformity
•Progressive because of recurrent 
microatelectasis causing failure of 
lung development
•Recurrent aspiration and infection
•Sleep hypoventilation
34
Q

Restrictive Lung Disease Management

A
  • Assisted ventilation – bilevel positive airway pressure (BiPAP)
  • Secretion management
  • Antibiotics/infection management
35
Q

Gastrointestinal/Nutrition Deficits of SMA

A 
•Weakness can result in failure to thrive and aspiration pneumonia
•Dysphagia and fatigue
•Constipation 
•Adiposity/overweight
•Percutaneous gastrostomy
•Nissen fundoplication
•Nutritionist/dietician 
consultation
36
Q

Orthopedic Changes of SMA

A
  • Spinal deformity
  • Pectus excavatum
  • Joint contractures
  • Fractures
  • Hip subluxation

Clinical Conditions II (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions