1 of 39

Course: Pediatric Nursing

Topic: Nursing care of child with Neuromuscular Disorders Part III

The Nurses International Community

Contact info: info@nursesinternational.org

2 of 39

COPYRIGHT

NI Privacy Policy and Terms of Use.

Contact info: info@nursesinternational.org

3 of 39

Module Goals

Learners will be able to:

Identify risk factors associated with and/or causes of muscular dystrophy and spinal muscular dystrophy.
Identify common signs and symptoms of muscular dystrophy and spinal muscular dystrophy.
List diagnostic procedures for muscular dystrophy and spinal muscular dystrophy.
Discuss the common medical treatments and management of muscular dystrophy and spinal muscular dystrophy.
Explain the role of the nurse in caring for children with muscular dystrophy and spinal muscular dystrophy.

Contact info: info@nursesinternational.org

4 of 39

Muscular Dystrophy

A genetic (inherited) disorder of the muscles
Causes the muscles in the body to become very weak
Can run in families, or an individual can be the first in their family
The two most common forms:

Duchenne muscular dystrophy (DMD)
Becker muscular dystrophy (less severe than DMD)

Girls are rarely affected by either of these two forms

CDC, 2020

Children’s National Hospital, 2022

Contact info: info@nursesinternational.org

5 of 39

Muscular Dystrophy

Problems commonly associated with muscular dystrophy:

Heart problems
Scoliosis
Obesity

Children’s National Hospital, 2022

Contact info: info@nursesinternational.org

6 of 39

Critical Thinking Question

Girls and boys both equally are affected by muscular dystrophy.

True
False

Contact info: info@nursesinternational.org

7 of 39

Causes

Changes (mutations) in genes responsible for structure and functioning of an individual's muscles.

Mutations cause changes in muscle fibres that interfere with the ability of muscles to function.

NHS, 2021

Contact info: info@nursesinternational.org

8 of 39

Types

Duchenne MD:

Most common and severe form usually affects boys

Myotonic dystrophy:

Can occur at any age but common in adults

Facioscapulohumeral MD:

Develops in childhood or adulthood

Becker MD:

Develops later in childhood and is less severe

Limb-girdle MD: Hip and shoulder muscles are usually affected
Facioscapulohumeral (FSHD): Symptoms usually begin in the face and shoulders

NHS, 2021

Contact info: info@nursesinternational.org

9 of 39

Signs and Symptoms

Usually diagnosed in children between 3 and 6 years of age
Early signs include:

Delay in walking
Difficulty rising from a sitting or lying position
Frequent falling
Weakness in pelvic and shoulder muscles

Children’s National Hospital, 2022

Columbia University, 2022

Contact info: info@nursesinternational.org

10 of 39

Critical Thinking Question

Which of the following is the most common and severe form of Muscular dystrophy in children?

Duchenne muscular dystrophy
Myotonic dystrophy
Becker Muscular dystrophy
Limb-girdle Muscular dystrophy

Contact info: info@nursesinternational.org

11 of 39

Signs and Symptoms

Each child may experience symptoms differently
Other most common symptoms:

Clumsiness
Difficulty climbing stairs
Facial weakness, inability to close eyes
Inability to jump or hop
Inability to whistle
Leg pain, walking on tiptoes

Often have large calves as a result of large fatty deposits

Children’s National Hospital, 2022

Columbia University, 2022

Contact info: info@nursesinternational.org

12 of 39

Diagnosis

A complete prenatal and birth history of the child
Familial history of muscular dystrophy
Diagnostic tests include:
Blood tests (genetic blood tests)
Muscle biopsy
Electromyogram (EMG): check if muscle weakness is a result of destruction of muscle tissue rather than nerve damage
Electrocardiogram (ECG or EKG): detects heart muscle damage

Children’s National Hospital, 2022

Columbia University, 2022

Contact info: info@nursesinternational.org

13 of 39

Treatment

No cure for muscular dystrophy
Either nonsurgical or surgical
Nonsurgical interventions may include:

Physical therapy
Positioning aids used to help the child sit, lie, or stand
Braces and splints used to prevent deformity, promote support, or provide protection
Medications
Nutritional counseling
Psychological counseling

Children’s National Hospital, 2022

Columbia University, 2022

Contact info: info@nursesinternational.org

14 of 39

Treatment

Surgical interventions to manage the following conditions:

Scoliosis (a sideways curvature of the back bones)
Maintaining the child's ability to sit or stand

Children’s National Hospital, 2022

Columbia University, 2022

Contact info: info@nursesinternational.org

15 of 39

Critical Thinking Question

The treatment may include the surgical intervention for scoliosis in children with Muscular Dystrophy.

True
False

Contact info: info@nursesinternational.org

16 of 39

Long Term prognosis of a Child with DMD

Walking and sitting often becomes more difficult as the child grows.
Usually by age 12, the child needs a wheelchair because the leg muscles are too weak to work.
Heart or lung problems often occur by late teenage years or into the early 20s.

Children’s National Hospital, 2022

Columbia University, 2022

Contact info: info@nursesinternational.org

17 of 39

Spinal Muscular Atrophy (SMA)

A genetic inherited disorder characterized by weakness and wasting in skeletal muscles used for movement.
Affects 1 per 8,000 to 10,000 people worldwide.
Caused by loss of specialized nerve cells, called motor neurons that control muscle movement.
Weakness is more severe in proximal than distal muscles (muscles away from the body's center).
Muscle weakness worsens with age.

MedlinePlus, 2018

Contact info: info@nursesinternational.org

18 of 39

Spinal Muscular Atrophy

Motor neurons in spinal cord do not work properly.
Messages that the brain sends along motor neurons do not get through to the muscles leading to muscle damage and weakness.
Over time, muscles atrophy (waste away).

Better Health, 2019

Contact info: info@nursesinternational.org

19 of 39

Critical Thinking Question

Spinal Muscular Atrophy is characterized by the weakness an _________ in skeletal muscle used for movement.

Contact info: info@nursesinternational.org

20 of 39

Spinal Muscular Atrophy

Affects muscles throughout the body, including:

Muscles of the shoulders, hips, and back- most severely affected
Muscles involved in feeding and swallowing
Muscles involved in breathing and coughing

Child is prone to pneumonia and other lung problems

Better Health, 2019

Contact info: info@nursesinternational.org

21 of 39

Causes

Caused by defects in both copies of the survival motor neuron 1 gene (SMN1) on chromosome 5q
This gene produces the survival motor neuron (SMN) protein which maintains the health and normal function of motor neuron
Individuals with SMA have insufficient levels of the SMN protein, which leads to loss of motor neurons in the spinal cord, producing weakness and wasting of skeletal muscles

NIH, 2021

Contact info: info@nursesinternational.org

22 of 39

Critical Thinking Question

Individuals with SMA have insufficient levels of the________________________.

Contact info: info@nursesinternational.org

23 of 39

Types

Classified into types 1 to 4 based on physical milestones achieved
Three major types of SMA affect infants and children

SMA type I
SMA type 2
SMA type 3

Better Health 2019

Nationwide Children’s Hospital, 2021

Contact info: info@nursesinternational.org

24 of 39

Types

SMA type 1

Also called infantile onset or Werdnig-Hoffmann disease
Age onset: birth to six months
Symptoms include:

Generalised muscle weakness
Weak cry
Trouble breathing, swallowing and sucking
Delay in achievement of developmental milestones, e.g., sitting up without support
Life span rarely exceeds two years of age

Better Health 2019

Contact info: info@nursesinternational.org

25 of 39

Types

SMA type 2

Also called intermediate SMA
Age onset: 7 to 18 months
Symptoms include:

Muscle weakness in arms, legs and lower torso
Weak respiratory muscles
Scoliosis
Can sit without support, but do not stand or walk independently
Usually live to young adulthood and many live longer

Better Health 2019

Contact info: info@nursesinternational.org

26 of 39

Types

SMA type 3

Also called Kugelberg-Welander disease (mildest form)
Age onset: 18 months to 15 years
Symptoms include

Weakness in leg, hip, shoulder, and arm muscles
Weak respiratory muscles
Can stand and walk
Scoliosis may occur
Loss of ability to walk during adolescence in some individuals
Life span is unaffected

Better Health 2019

Contact info: info@nursesinternational.org

27 of 39

Critical Thinking Question

Which is the most severe form of Spinal Muscular Atrophy (SMA)?

SMA type 1
SMA type 2
SMA type 3

Contact info: info@nursesinternational.org

28 of 39

Diagnosis

Clinical exam findings
Genetic testing by blood or tissue samples
Electromyography (EMG)
Muscle biopsy

Nationwide Children’s Hospital, 2021

Contact info: info@nursesinternational.org

29 of 39

Treatment

No known cure
Supportive therapy
Physical therapies and assistive devices to promote independence
Respiratory medicine
Physiotherapy
Occupational therapy
Speech and language therapy
Gastrointestinal medicine

Nationwide Children’s Hospital, 2021

Better Health, 2019

Contact info: info@nursesinternational.org

30 of 39

Nurses Role

Understanding etiology of muscular dystrophy and spinal muscular dystrophy
Health history and physical exam
Proactively managing ongoing physical impact on a child’s daily life
Providing psychosocial support to the child and family
Engaging and co-ordinating multi-disciplinary team assessment and input
Provide parental education for activity, diet, mealtime strategies

Royal College of Nursing, 2022

Contact info: info@nursesinternational.org

31 of 39

Nurses Role (Continued)

Skin care needs: position change to prevent pressure sores
Promote independence in ADLs to prevent muscle and joint contractures
Assess adequate ventilation and oxygenation (especially during sleep)
Supportive care (management of orthoses and orthopedic equipment)
Child who can sit needs proper support and attention to alignment to prevent deformities
Special nutritional considerations while feeding to prevent choking
Encourage genetic counselling

Hockenberry & Wilson, 2007

Contact info: info@nursesinternational.org

32 of 39

Critical Thinking Question

There is no known cure for Spinal Muscular Dystrophy (SMA).

True
False

Contact info: info@nursesinternational.org

33 of 39

Red Flags

Generalised muscle weakness
Weak cry
Trouble breathing, swallowing and sucking
Delay in achievement of developmental milestones

Contact info: info@nursesinternational.org

34 of 39

Cultural Considerations

Religion, culture, beliefs, and ethnic customs can influence how families understand and use health concepts:

Health beliefs: In some cultures talking about a possible poor health outcome will cause that outcome to occur.
Health customs: In some cultures family members play a large role in health care decision-making.
Ethnic customs: Differing gender roles may determine who makes decisions about accepting & following treatment recommendations.

AHRQ, 2020

Contact info: info@nursesinternational.org

35 of 39

Cultural Considerations (Continued)

Religion, culture, beliefs, and ethnic customs can influence how families understand and use health concepts:

Religious beliefs: Faith and spiritual beliefs may effect health seeking behavior and willingness to accept treatment.
Dietary customs: Dietary advice may be difficult to follow if it does not fit the foods or cooking methods of the family.
Interpersonal customs: Eye contact or physical touch may be ok in some cultures but inappropriate or offensive in others.

AHRQ, 2020

Contact info: info@nursesinternational.org

36 of 39

References:

CDC. (2020 October 27). What is Muscular Dystrophy?. https://www.cdc.gov/ncbddd/musculardystrophy/facts.html

Columbia University. (2022). Muscular Dystrophy / MD (Pediatric).https://www.columbiadoctors.org/treatments-conditions/muscular-dystrophy-md-pediatric

Children’s National Hospital. (2022). Pediatric Muscular Dystrophies. https://childrensnational.org/visit/conditions-and-treatments/movement-disorders/muscular-dystrophies#:~:text=Muscular%20dystrophy%20is%20usually%20diagnosed,one%20of%20the%20initial%20symptoms

NHS. (2021 July 20). Overview: Muscular Dystrophy. https://www.nhs.uk/conditions/muscular-dystrophy/

Contact info: info@nursesinternational.org

37 of 39

References:

Royal College of Nursing. (2022). Neuromuscular Disorders. https://www.rcn.org.uk/clinical-topics/Neuroscience-nursing/Neuromuscular-disorders

Hockenberry, M. J. & Wilson, D. (2007). WONG’S Nursing Care of Infants and Children. 8th edi. Mosby

MedlinePlus. (2018 October 1). Spinal muscular atrophy. https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy/#frequency

Better Health. (2019). Spinal muscular atrophy. https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/spinal-muscular-atrophy-sma#types-of-spinal-muscular-atrophy

Contact info: info@nursesinternational.org

38 of 39

References:

Nationwide Children’s Hospital. (2021). Spinal Muscular Atrophy. https://www.nationwidechildrens.org/conditions/spinal-muscular-atrophy

NIH. (2021). Spinal Muscular Atrophy Fact Sheet. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Spinal-Muscular-Atrophy-Fact-Sheet

Contact info: info@nursesinternational.org

39 of 39

Please go to

My Learning Experience

to provide feedback on your experience.

Thank you, and come back soon!

Contact info: info@nursesinternational.org