6
What (2) things are not typically impaired in spinal muscular atrophy? ***
1. Sensation
2. Cognition
Which type of SMA:
- Milder forms of SMA
- Later onset and variable levels of disability
- Symptoms typically develop by age 18 years
- May have a typical life span
- May walk independently or with an AD into late adolescence or early adulthood before transitioning into a WC
SMA type III -- Kugelberg Welander disease
Which type of SMA is most likely to have contractures?
Type I
At what age does SMA type I manifest in children?
Before 6 months of age
How many classifications of spinal muscular atrophy are there?
4
- Supportive care
- Differs based on type of SMA
- Address impairments: weakness, impaired mobility, pain, osteopenia, spinal deformities, contracture development, impaired ADLs
- PT goals: maintenance of ROM, strength, balance training, respiratory training, improving or maintaining mobility and function
Treatment of SMA
- Group of autosomal recessive disorders
- Mutation or deletion of survival motor neuro 1 (SMN1) gene
Spinal muscular atrophy
T/F: For SMA, the longer the child walks, the better the outcome?
True
As soon as they stop walking --> scoliosis --> respiratory restrictions
For SMA type II, what age do symptoms typically occur between?
Which type of SMA:
- Develop symptoms in adulthood
- May continue to walk until a later age
- Mildest form and least common
SMA type IV
- Limb and trunk weakness
- Muscle atrophy more pronounced proximally and in LE
- Hypotonia
- Areflexia
- Progressive deformities due to muscle weakness and immobility
- Soft tissue contractures
- Hip subluxation
- Scoliosis
- Club foot
- GI: dysphagia, constipation, due to hypotonia of abdominal muscles, immobility, improved with increased activity, water and fiber, failure to thrive
- Respiratory systems: restrictive lung disease common
SMA clinical features
- Benefit from interventions that prolong ambulation
- Scoliosis progresses rapidly as children with neuromuscular diseases become nonambulatory
- Curve progresses - Decline in respiratory function - Surgical intervention
- Preventing contractures in is very difficult to impossible
- Some decline in ROM is inevitable
Type II SMA
Characterized by:
- Degeneration of anterior horn cells of the spinal cord (LMN)
- Muscle atrophy
- Widespread weakness
- Absent deep tendon reflexes
- Sensation and cognition not typically impaired
- 1 out of every 10,000 live births
Spinal muscular atrophy
- Improve or maintain respiratory function
- Encourage developmental milestones
- Minimize ROM limitations
- Improve feeding and swallowing mechanics
- Exercise beneficial in mouse models (little evidence in children)
Type I SMA treatment
Which type of SMA:
- Symptoms typically occur between 7 and 18 months
- Most able to sit independently
- May stand and walk short distances with assistive devices
- Typically do not stand independently functionally
- May live into adulthood with proper treatment and monitoring of pulmonary function
SMA Type II -- Chronic Werdnig Hoffman Disease
- Most severe form (and most common)
- earliest onset
- most rapid demise
- Most common (50%)
- Manifests before 6 months of age
- Children will not achieve the ability to sit unsupported
- Death by age 2 years typical
- Recent pharmacological dramatic change in life expectancy
- Nusinersen (Spinraza)
SMA type I -- Acute Werdnig Hoffman Disease
- Obtain power mobility
- Independent mobility: cognitive, social, and emotional development in all children
- Encourage participation in recreation and leisure activities - improve social development and self esteem
- Quality of life
- Help families find available resources in their area
PT for SMA
- Generally clumsy
- May walk on their toes
- Gross motor regression over time
- First sign: often delayed walking -- beginning around 18 months of age
- Ambulation skills often lost by age 12
Duchenne muscular dystrophy
What is the gene therapy medication for children that do not have SMN1 gene, so we can give this medication to add the gene that is missing. Med is worth over $2 million. Has to be given early because it will not reverse symptoms.. only stops it where it is.
Zolgensma
- Can outgrow their muscles capacity and begin to lose function
- Strengthening, nutrition, and weight management education
- Traditional growth charts inappropriate due to decrease in lean muscle mass
- Education in energy conservation techniques to prevent fatigue and falls
Type III SMA
- Pre-symptomatic stage = no one knows whats going on
- Early ambulatory stage = starting to walk
- Late ambulatory stage = not walking for much longer
- Early non-ambulatory stage
- Late non-ambulatory stage
5 stages of disease related to DMD
- Enlargement without increased strength of calf muscles
- Presents later in development
- Due to accumulation of fat and connective tissue in the muscle
- Appearance of strong muscle
- Pattern of weakness affects proximal musculature greater than distal **
Pseudohypertrophy in DMD
What is the first sign of DMD?
Delayed walking -- beginning around 18 months of age **
Extremities to manually assist knee extension by "walking" the hands up the LE when moving from the floor to standing
Gowers sign **
- Most common muscular dystrophy
- Fatal disease
- Progressive weakness of the skeletal and respiratory muscles
- Progressive/degenerative disease
- Typical life expectancy: 20-30 years
- X linked recessive defect on the Xp21 portion of the X chromosome
- Gene encodes production of protein dystrophin - linked to muscle function
- Males have this disease
- Female carriers: can pass disease on and may exhibit muscle weakness or cardiomyopathy
- genetic and blood composition abnormalities are present
- genetic testing confirming diagnosis
- Language delay and later cognitive difficulties
Duchenne muscular dystrophy