Amyotrophic Lateral sclerosis (ALS)
What differential tests are done?
-blood tests -physical exam -Genetic testing -medical history -MRI scan -Nerve conduction test -swallowing studies
What are the signs and symptoms of ALS?
-cramps -fasiculations -dysphagia -weakness and paralysis progressive throughout body -breathing difficulties -Dysarthria -loss of upper motor neurons -damage to lower motor neurons -LOB and falls
What are the first areas of difficulty usually noticed in ALS?
-hands during fine motor tasks -feet while walking
What is the 1st stage of ALS?
-independent with ADLs -minor limitations and some pain may be present -decreased endurance
What is the 2nd stage of ALS?
-muscle imbalance -decreased mobility and function -increased muscle fatigue due to using more energy to perform ADLs
What physical tests are done to diagnose ALS?
-neurological exam -pulmonary funciton -motor control and movement
What is currently used to help manage ALS?
-program of exercise and rest -respiratory support -medication
What is the 3rd stage of ALS?
-progressive weakness in trunk -greater loss of mobility and function -wheelchair for distance -assistance for many ADLs
What is the affect of Riluzole?
-reduce motor neuron damage -decrease glutamate release -reduces the damage and death of nerve cells
What is the 4th stage of ALS?
-totally dependent for ADLs -ventilator support may be necessary -swallowing is difficult or impossible
What are the theories as to the cause for the 90% of ALS cases not due to genetics?
-toxic reaction to build up of glutamate in nerve cell synapse -autoimmune disorder -Hormone abnormality -enzyme deficiency
What is the effects of spinal (progressive) muscular atrophy?
-weakness -atrophy -loss of reflexes -fasciculation
What kind of adaptive equipment is used by people with ALS?
-wheelchair and equipment consultation -AAC
What types of therapeutic interventions are done for people with ALS?
-work simplification -energy conservation -adaptive equipment -swallow intervention -environmental adaptations -compensatory techniques -caregiver education
What are the two types of ALS?
1) spinal (progressive) muscular atrophy 2) progressive bulbar palsy
How many cases of ALS generally exist in the US at any given time?
30,000
What is the age that ALS affects?
40-70 y/o
How many cases of ALS are diagnosed each year in the US?
5,600
When is ALS usually diagnosed?
55 y/o
How many people are diagnosed with ALS
6-8 per 100,000
What surgery is done for people with ALS
Gastrostomy
How is ALS diagnosed?
No specific test-- differential diagnosis
What is the first FDA approved drug for ALS?
Riluzole (Rilutek)
What is a fasciculation?
Small local muscle contraction (twitch)
What type of therapy is currently being tested for effectiveness?
Stem cell therapy
What type of equipment is usually used to support individuals with ALS with breathing difficulties?
Ventilator
What is ALS?
a motor neuron disease that attacks the motor neurons located in the brain, brainstem, and spinal cord
Why is an MRI scan done?
allows view of the brain and spinal cord to help determine if it's something other than ALS causing the signs and symptoms
What is the affect of ALS on cognitive function?
cognitive function stays intact
What does sclerosis mean?
degenerative "hardening"
What is dysarthria?
difficult of unclear articulation of speech that is otherwise linguistically normal
What is dysphagia?
difficulty or discomfort swallowing
When are the most benefits seen with Riluzole?
early in treatment
What is the outcome of damage to lower motor neurons?
flaccid paralysis with decreased muscle tone and reflexes
What is the life expectancy for people with ALS?
generally 3-5 years, but people can live up to 10 years
What is generally the outcome of dysarthria for people with ALS?
inability to communicate verbally
What is the affect of progressive bulbar palsy?
loss of muscles innervated by cranial nerves
What motor neuron is affected in spinal (progressive) muscular atrophy?
lower motor neurons
What is the main goal of intervention for people with ALS?
maintaining optimal level of function
Why is a gastrostomy done for people with ALS?
may be necessary to reduce choking/aspiration in clients experiencing swallowing difficulties
What is the amount of men v women diagnosed with ALS?
men= 60% women= 40%
What does amyotrophic mean?
muscle wasting
what are the first symptoms of ALS?
muscle weakness and atrophy?
ALS causes the death of what kind of cell?
nerve cells controlling voluntary muscles of body
What is the onset of ALS?
no clear onset-- the disease affects people at different rates and can have subtle beginning
Is there a treatment for ALS?
no specific treatment to slow the progression
what is the result of cell death caused by ALS?
paralysis and ultimately death
What is the prognosis of ALS?
progressive and degenerative
What parts of brain function are generally spared in ALS?
sensory systems, cognition, and urinary sphincters
What is the outcome of loss of upper motor neurons?
spastic paralysis and hyper-reflexion
What is a gastrostomy?
surgical opening into the stomach
How do the symptoms of ALS progress?
symmetrically
What is a differential diagnosis?
tests are completed to rule out other diseases that may be the cause
what is the cause of ALS?
the exact cause is unknown
Why is a medical history taken?
to determine if symptoms are caused by prior conditions
Why is a nerve conduction test done?
to rule out peripheral nerve damage or muscle disease
Why is genetic testing done?
to see if there is a family history of ALS
How are therapeutic interventions decided for people with ALS?
treatment is based on symptoms
What motor neuron is affected in progressive bulbar palsy?
upper motor neuron involvement
Why is an EMG done?
used as a recording technique used to detect electrical activity in the muscle
When is respiratory support done?
usually within 2-5 years
How many of cases are caused by being inherited on a dominate gene?
~10%