Neuromuscular conditions Flashcards
What is a neuromuscular condition?
condition that impacts the motor unit - ant horn cells, peripheral nerve, neuromuscular junction, muscle
- strong genetic component
- many are progressive in nature
-
Neuromuscular conditions impact…
a) any portion of the motor unit
b) only the muscles
c) the synapses at the neuromuscular junction
d) the myelin sheath of the sensory nerves
A)
What do neuromuscular conditions present as generally?
muscle weakness
what is a Spinal Muscular Atrophy (SMA)?
- autosomal recessive disorder
- mutation or lack of survival motor neuron gene (SM1)
-deficiency in SMN
what part of the motor unit is affected in SMA?
a) white matter of the spinal cord
b) anterior horn cells of the spinal cord
c) neuromuscular junction
d) the muscle tissue
B) anterior horn cells of the spinal cord
what might having 2 copies of SMN 2 indicate about ones physical presentation?
Having more copies of SMN2 is associated with LESS severe symptoms of SMA
what does SMN1 do?
produces all the SMN protein we need to function
When is the typical onset of Type 1 SMA? What are the typical milestones?
onset: before 6 months
milestones: no sitting
When is the typical onset of Type 2 SMA? What are the typical milestones?
onset: 6-18 months
milestones: sitting, not walking
When is the typical onset of Type 3 SMA? What are the typical milestones?
Onset: childhood after 12 months
Milestones: walking
When is the typical onset of Type 4 SMA? What are the typical milestones?
onset: after 30 YO
milestones: normal
What is spinraza?
- injection in spine. Every 4-6 months
- SMN enhancing therapy - targets SM2 gene, creating a more complete protein
What does Zolgensma do?
- gene therapy
- targets SMN 1 gene - 1x injection (given when <2 YO)
What is risdiplam?
- daily oral medication
- modifies SMN2 (same as spinraza)
What are possible assessments for non-sitters?
- postural control
- sitting tolerance
- chest deformities
- muscle weakness
- contractures
- hip dislocation
What are some PT interventions for non-sitters?
- positioning & bracing
- static thoracic bracing (scoliosis)
- stretching & orthoses(contractures)
- seating & mobility systems
What are some assessments for sitters?
- Postural control
- foot and chest deformities
- scoliosis & pelvic obliquity
- hip dislocation
- contractures (ROM, goniometry)
- functional scales (HFMSE, RULM, MFM)
- muscle weakness
What are some interventions for sitters?
- positioning & bracing
- thoracic & cervical bracing
- stretching & orthoses
- KAFOS, AFOs
- gait training devices, mobility devices
which segments of the body are known to be at risk for contractures in SMA?
hip, knee, elbows, fingers
What is a secondary complication that is very common for neuromuscular conditions?
Scoliosis
- muscle weakness + affects of gravity = scoliosis
- many people with SMA will require spinal fusion (brace will allow for spinal fusion when they are teens, it DOESNT prevent scoliosis)
- must consider alginment & positioning 24hrs/day
What are some common symptoms in SMA?
- Weakness
- Motor milestone delays
- Difficulty with walking (weakness) and keeping up with peers
- Frequent falls
- Wheezing sounds after eating
- Weak cry
What is Duchenne Muscular Dystrophy?
- genetric disorder caused by a defect in the gene coding for Dystrophin (acts as a shock absorber for muscle cells)
- progressive muscle weakness & degeneration –> loss in function
- unable to regenerate damaged muscle
- impacts all muscles of the body including heart & respiratory muscles
What part of the motor unit does DMD impact?
a) the muscle
b) neuromuscular junction
c) motor neuron
d) neurotransmitters
a) the muscle
What are some early signs of DMD?
- difficulties coming up from floor
- waddling gait
- difficulties running, climbing, crawling
- pseudohytrophy of the calves (muscle become replaced by fat and fibrotic tissue)
- delayed speech
What are later signs of DMD progression?
- controlling head position
- difficulty rolling over, standing, walking
- struggling to keep up with friends
- scoliosis
- at age 10 - walking no longer possible, arms begin to weaken
- ag 14 - difficult to bring hand to mouth, cough machines needed
What are the medical treatment options for DMD?
- Deflazacort: corticosteroid - allowed boys to ambulate for longer
- Calcium, Vitamin D (bone fragility and proper nutrition)
- Creatine (improve strength and performance)
- Vitamin K (removal of calcium deposits and slow down muscle destruction)
What are typical presentations of DMD?
- Gower’s Sign
- Toe walking
- Drop falls
Why do boys with DMD stand up with a Gowers sign?
Muscles weakness in LE, hip extensor weakness
Why do boys with DMD toe walk?
to help balance themselves against gravity - they stack the spine forward sot hey need to go onto their toes to counteract
secondary issues –> tight gastroc + soleus
What is a drop fall in DMD?
The amount the pt is trying to walk is above what their capacity is –> making them fall from weakness
When would we want to use an AFO on a pt with DMD?
at night during sleep - we want to maintain range but not during walking as they need that plantarflexion into order to balance themselves against gravity
Wha assessments would you want to perform for DMD?
- ROM
- timed functional tests
- secondary complications
- endurance
What are some exmaples of timed functional tests?
DMD
Rising from the floor
4-stair climb
10-meter walk/run
What are important considerations of treating a pt with DMD?
- high risk of fractures (e.g., compression fractures)
- low bone mineral density -> weak muscles pulling on bone
- less weight bearing
- steroid treatment causes weak bones
- ## NO WALKERS - arms are too weak to support body, could fall on walker & fracture. risk of fatty embolism syndrome (particles of fat get into your bloodstream and block blood flow.)
What are some treatments
What are some PT treatments for DMD?
- Maintaining ROM - AFO
- Education on condition, what to expect, how to manage
- Monitoring progression
- Light, low impact cardiovascular exercise
- Participation in daily activities and patient preference of activities
Is strength training safe for indiviudals with DMD?
contraindicated - we want to encourage normal age appropriate activties to decline the rate of atophy (they will atrophy regardless but we dont want the reason to be from not using their muscles at all)
- avoid:
1. overuse of muscles causing fatigue
2. resistance and eccentric strengthening
What is Charcot Marie Tooth Disease?
- Most comon inherited peripheral neuropathy
- slowly progressive deterioration of peripheral nerves
- sensory & motor nerves affected
- progressive muscle atrophy & muscle weakness
- sensory changes
- many types of CMT
What are some signs & symptoms of CMT?
- muscle pain
- hand tremosr
- cold hands & feeet
- drop foot
- nerve pain (burning, stabbing, shooting, stinging), chronic fatigue
- numbness
- curled fingers
- muscle atrophy LE & UE
- curled toes
- high foot arches (or flat feet)
- breathing difficulties
What are the first signs of CMT?
toe walking, frequent tripping, ankle sprains, falls, burning sensation in feet/hands
CMT impacts…
a) The deep pressure and vibration receptors on the feet
b) The peripheral nerves of the motor nerves only
c) The neurotransmitters at the neuromuscular junction
d) The motor and sensory peripheral nerves
D) The motor and sensory peripheral nerves
What are the tratment goals of CMT?
- Maintain achilles length and a stable, flexible and pain free foot
- Prevent disuse atrophy and promote activity
- Clinical literature indicates that regular exercise may slow the progression of the disease
What are some possible treatment interventions for CMT?
- AFOs can be used
- Exercises that reduce joint stress - swimming, walking with balance walking poles, yoga
- Mobility
- Balance
- Aerobic activity
- Contracture management - ROM, positioning, orthotics
- Proprioception
- Endurance – 30 min/day: walking, swimming, cycling (children -> 60 min/day)
- Pain management
What are the exercise recommendations for pediatric pts with CMT?
- 1 hour of exercise/activity per day
- At least 3 days of moderately vigorous activity
- balance exercises
- aerobic exercises
- bone & muscle strengthening
- Consider safety, age appropriateness and meaningful play
e.g., Bike riding, Games of catch, Swimming, Resistance exercises, Video exercise games on Playstation, Wii, or Xbox, Low impact martial arts
What are the exericse recommendations for adults with CMT?
- 150 min/week total
- 2.5 hours/week of aerobic exercise in 10-minute bursts spread throughout the week (mod-vigourous)
- At least 2 days per week of strengthening of major muscle groups (low weight, high reps)
- Low impact
things to consider:
* Weight machine & exercise bands are safer - if you have grip weakness and youre holding a free weight = risk
* Could do biking or rowing compared to running because of the lack of ankle strength
