Chronic Neurological
Diseases
Restless Leg Syndrome, Huntington’s
Disease, Amyotrophic Lateral Sclerosis &
Myasthenia gravis
Restless Leg Syndrome
(RLS)
Etiology
• Relatively common (5-15% of
population)
• More common in older adults
• More common in women than men &
women have earlier age of onset
• Lower in Asian population
Types of Rest Legs Syndrome
Primary (idiopathic)


majority of cases
familial tendency
Secondary
metabolic abnormalities associated with:
 iron deficiency
 renal failure
 polyneuropathy associated with diabetes
 rheumatoid arthritis
 pregnancy
Pathology
• Primary RLS related to abnormal iron
metabolism and functional alterations in
dopaminergic neurotransmitter system
• Exact cause unknown
• Strong association between RLS and
cardiovascular disease
Theories
1. An alteration in dopaminergic
transmission in the basal ganglia
2. Axonal neuropathy
3. Brainstem disinhibition phenomenon
resulting in motor and sensory
disturbances
Clinical Manifestations
Sensory symptoms
Motor abnormalities
• Range from infrequent minor
discomfort to severe pain
• Unpleasant sensations
(prickling, tingling, crawling,
numbness)
• Pain usually in calf muscles,
upper extremities or trunk
can be affected.
• Discomfort occurs during rest,
most common during evening
or night.
• Discomfort relieved by activity
such as walking or kicking
• Compelling urge to move legs
• Voluntary restlessness
• Involuntary movements
(usually during sleep)
Clinical Manifestations cont.
• Symptoms of RLS are aggravated by fatigue
• Over time RLS advances to more frequent and
severe episodes
• Anemia, deficient iron conditions and certain
medications (neuroleptics, lithium,
antihistamines & antidepressants) can cause or
worsen condition
Diagnostic studies
• Patient history
• Polysomnography studies to rule out other
conditions (sleep apnea)
• To exclude secondary causes: CBC, serum
ferritin levels and renal function tests
• Patient with diabetes: evaluate diabetes
management to rule out peripheral
neuropathy
Management of RLS
Goal: reduce discomfort and distress and
improve sleep quality
• Treat secondary causes (DM, iron
deficiency, renal failure)
• Encourage exercise, regular sleep pattern
• Avoid activities causing symptoms, alcohol
& caffeine, certain drugs (neuroleptics,
lithium, antihistamines & antidepressants)
RLS Drug Therapies
• Dopaminergic agents (Carbidopa/levodopa,
pergolide, bromocriptine, pramipexole,
ropinirole)
• Opioids
• Benzodiazepines
• Ropinirole (used to treat PD) for moderate to
severe RLS
• Antiseizure drugs (gabapentin, divalproex,
lamotrigine, carbamazepine)
• Clonidine or propranolol
Nursing Considerations
• Sleep disrupted
• Daytime fatigue
• Disruption of daily routine (Work performance,
social & family life)
• Depression
• Symptoms of RLS are aggravated by fatigue
• Over time RLS advances to more frequent and
severe episodes
Huntington’s Disease
George Huntington, M.D., who first described the disease that bears his
name.
What is Huntington’s Disease?
• Huntington's disease is a progressive, degenerative brain
disorder caused by a single defective gene on chromosome 4
• This defect is “autosomal dominant," meaning that an
abnormal gene from one parent can cause disease, even
though the matching gene from the other parent is normal
• An affected parent has a 50% change of having a child with
Huntington’s disease
• Affects women and men of all races
• Onset usually between 30-50 years of age
• 30,000 Americans are symptomatic and 150,000 are at risk
• No cure
Pathology of Huntington’s
• Involves basal ganglia and the extrapyramidal
motor system
• Deficiency of gamma aminobutyric acid (GABA)
• Deficiency of acetylcholine (ACh)
• Excess of dopamine
Clinical Manifestations
Movement disorders
• Abnormal and excessive involuntary movement
(chorea)
• Writhing, twisting movements of face, limbs and
body, getting worse as disease progresses
• Facial movement involve speech, chewing &
swallowing (can cause aspiration & malnutrition)
• Gait deteriorates and ambulation becomes
impossible
Clinical Manifestations cont.
Cognitive Deterioration
• Perception
• Memory
• Attention
• Learning
Combination of motor and cognitive disorders
results in complete loss of speech capacity
Psychiatric symptoms of HD
• Depression
• Irritability
• Anxiety
• Agitation
• Impulsivity
• Apathy
• Social withdrawal
• Obsessiveness
End stages of Huntington’s
• Weight loss in spite of caloric intake
• Respiratory distress secondary to
pneumonia
• Fevers
• Sleeping and deep lethargy during the day
• Death usually occurs 10-20 years after the
onset of symptoms
Diagnosis of Huntington’s
• Family history
• Clinical symptoms
• Genetic testing (DNA testing, fetal cells
from amniocentesis or chorionic biopsy)
can determine whether person is a carrier
but no test available to predict when
symptoms will develop)
Treatment of Huntington’s
Collaborative care is palliative
Medications to treat movement disorder
• Tetrabenazine (specifically for HD, decreases
amount of dopamine available at synapses in
brain and decreases chorea)
• Neuroleptics (haloperidol, risperidone)
• Benzodiazepines (diazepam, clonazepam)
• Dopamine depleting agents (reserpine,
tetrabenazine)
Treatment cont.
Nondrug therapies for cognitive disorders
• Counseling
• Memory book
Medications to treat psychiatric disorders:
• Selective serotonin uptake inhibitors (sertraline,
paroxetine)
• Antipsychotic medications ( haloperidol,
risperidone)
Nursing management of HD
• Provide most comfortable environment for patient &
family
• Maintain physical safety
• Treat physical symptoms
• Emotional and psychological support
• Meet high caloric requirements (due to chorea)
• Discuss End-of-life issues with patient and
caregiver(home vs long-term care facility, artificial
feeding methods, use of medications, advance directives,
CPR & guardianship)
Huntington’s disease: A family tragedy
Where to find more info
More info available at Huntington’s Disease
Society of America
http://www.hdsa.org/
Amyotrophic Lateral Sclerosis
(ALS)
What is Amyotrophic Lateral
Sclerosis (ALS)?
• ALS is a rare, progressive neurologic disease,
characterized by motor neuron loss for which there
is currently no cure.
• Also called Lou Gehrig’s Disease
• Usually leads to death within 2-6 years after
diagnosis (some survive > 10 years)
• Usual onset: 40-70 years of age
• More common in men than women 2:1
• About 5000 cases diagnosed in the U.S. per year.
Motor neurons in the brainstem
and spinal cord gradually
degenerate
• Dead motor neurons
can not produce or
transport signals to
muscles
• electrical and
chemical messages
from brain do not
reach muscles
• Cause: unknown
Symptoms of ALS
• Weakness of upper extremities (weakness may
begin in the legs)
• Dysarthria
• Dysphagia
• Muscle wasting and fasciculation (due to
denervation of muscles & lack of stimulation and
use)
Other symptoms of ALS
• Pain
• Sleep disorders
• Spasticity
• Drooling
• Emotional liability
• Depression
• Constipation
• Esophageal reflux
Diagnosis of ALS
• Medical history
• Physical examination
• EMG
• Muscle biopsy (verifies lower motor
neuron degeneration and denervation)
Treatment of ALS
• There is no cure for ALS
• Death results usually from respiratory infection
secondary to compromised respiratory function
• Patient remains cognitively intact while wasting away
• Medication to slow progression of ALS: Riluzole
Riluzole decreases glutamate (excitatory
neurotransmitter) in the brain
• Moderate intensity, endurance-type exercises for trunk &
limbs (to reduce spasticity)
• Support patient’s cognitive and emotional functions
Nursing Interventions for ALS
•
•
•
•
•
•
•
Facilitate communication
Reduce risk of aspiration
Facilitate early identification of respiratory insufficiency
Decrease pain secondary to muscle weakness
Decrease risk of injury related to falls
Provide diversional activities
Help patient and family manage disease process,
including grieving related to motor function and
ultimately death
Research in ALS
• Mutation of the SOD1 gene causing ALS
• Environmental factors (toxins, heavy metal
exposure, warfare, pesticides)
• Therapies
Find more info at:
http://www.alsa.org/research/about-als-research/
Myasthenia Gravis
(MG)
What is Myasthenia Gravis?
• Autoimmune disease of the neuromuscular junction
• Characterized by fluctuating weakness of certain muscle
groups
• Occurs in either gender and any ethnicity
• Prevalence rate: 6 per 100,000
• Currently about 18,000 Myasthenia Gravis patients in the US
• Can occur at any age, most common between age 10-65,
infrequent over age 70
• Peak age at onset in women in childbearing years
• 2 times more common in women, but in older adults gender
equally affected
Etiology and Pathology
• Autoimmune process, antibodies attack acetylcholine (ACh)
receptors
• Decreased number of ACh receptor (AChR) sites at
neuromuscular junction, ACh molecules can’t attach and
stimulate muscle contraction
• 85%-90% of patients with generalized MG have anti-AChR
antibodies
• In 10%-15% patients muscle weakness may relate to
autoantibodies to muscle-specific receptor tyrosine kinase
• 15% of patients have Thymic tumors, most others have
abnormal thymus tissue
Pathophysiology
Clinical Manifestations
• Fluctuating weakness of skeletal muscle
• Strength restored after rest period
• Muscles used for moving eyes & eyelids, chewing, swallowing,
speaking and breathing are most often involved
• Muscle weakness prominent by end of the day
• In 90% eyelid or Extraocular muscles are involved
• Impaired facial mobility and expression
• Speech is affected, fading speech
• Muscles of trunk and limbs less often affected
• Proximal muscles of neck, shoulder & hip more often affected
• No sensory loss, reflexes are normal & muscle atrophy is rare
“Peek” sign of MG
The course of MG
• Highly variable from short-term remissions, stabilization and
severe, progressive involvement
• Restricted ocular myasthenia (usually only in men) has good
prognosis
• Exacerbation of MG by: emotional stress, pregnancy, menses,
another illness, trauma, temperature extremes & hypokalemia
• Drugs associated with worsening of MG: aminoglycoside
antibiotics, beta-adrenergic blockers, procainamide, quinidine,
phenytoin, psychotropic drugs and neuromuscular blocking
agents.
• Major complications result from muscle weakness in areas
that affect swallowing and breathing (aspiration, respiratory
insufficiency & respiratory infection)
Myasthenia crisis
An acute exacerbation of muscle
weakness triggered by infection,
surgery, emotional distress, drug
overdose or inadequate drugs.
Myasthenic vs Cholinergic crisis
Myasthenic crisis
Cholinergic crisis
Causes:
Exacerbation of myasthenia following
precipitating factors or failure to take
drugs as prescribed or drug dose too
low
Overdose of anticholinesterase drugs
resulting in increase ACh at receptor
sites, remission (spontaneous or after
Thymectomy)
Differential Diagnosis:
Improved strength after IV
anticholinesterase drugs
Increased weakness of skeletal
muscles manifesting as ptosis, bulbar
signs (difficulty swallowing or in
articulating words) or dyspnea.
Weakness within 1 hr. after
anticholinesterase ingestion; increased
weakness of skeletal muscles (ptosis,
bulbar signs & dyspnea), smooth
muscle effects: pupillary miosis,
salivation, diarrhea, nausea or
vomiting, abdominal cramps,
increased bronchial secretion,
sweating or lacrimation.
Myasthenic vs Cholinergic crisis
Diagnosis
• History and physical examination
• Fatigability with prolonged upward gaze
(2-3 min)
• Muscle weakness
• EMG
• Tensilon test
• Acetylcholine receptor antibodies
Collaborative Therapy
Drugs
• Anticholinesterase agents (Pyridostigmine)
• Corticosteroids
• Immunosuppressive agents
Surgery
• Thymectomy
Plasmapheresis
Second line treatment
• IV immunoglobulin G
Nursing Management of MG
Assessment (respiratory status, muscle strength, speech,
swallowing, cough and gag reflex, coping)
Nursing Diagnoses
• Ineffective breathing pattern
• Ineffective airway clearance
• Impaired verbal communication
• Imbalanced nutrition: less than body requirements
• Disturbed sensory perception (visual)
• Activity intolerance
• Disturbed body image
Goals for patients with MG
1. Return of normal muscle endurance or
maintain optimal muscle function
2. Manage fatigue
3. Be free from side effects of drugs
4. Avoid complications
5. Maintain quality of life appropriate to
disease course
Nursing Implementation
• Maintain adequate ventilation
• Continuing drug therapy
• Observe for side effects of therapy
• Appropriate diet
• Diversional activities that require little physical
effort
• Teaching (medical regime, drug side effects,
avoiding fatigue, community resources,
complication of disease and therapy and
management )
Myasthenia Gravis-Video
Reference
ALS Association. (2014).Our Research. Retrieved:
http://www.alsa.org/research/about-als-research/
Huntington’s Disease Society of America.
http://www.hdsa.org/
Lewis, S. L., Dirksen, S. R., Heitkemper, M. M., Bucher, L. &
Camera, I. (2011). Medical-surgical nursing assessment and
management of clinical problems(8th ed.). St. Louis, MI: Elsevier
Mosby.
McCance, K. L., Huether, S. E., Brasher, V. L. & Rote, N. S. (2010).
Pathophysiology. The biologic basis for disease in adults and
children (6th ed.).Maryland Heights, MI: Elsevier Mosby.
Review Questions:
Which medication taken by a client with
restless legs syndrome should the nurse
discuss with the client? (select all)
1.Lithium
2.Acetaminophen
3. Ibuprofen
4. Diphenhydramine
Answer
1. Lithium
4. Diphenhydramine
Lithium and diphenhydramine (an
antihistamine) can cause or worsen RLS
Question
Secondary RLS is caused by
metabolic abnormalities associated with
what diseases? (select all that apply)
1. Hyperthyroidism
2. Renal failure
3. Deficient iron condition
4. Hypothyroidism
Answer
2. Renal failure
3. Deficient iron condition
Secondary causes for RLS include metabolic
abnormalities associated with:
iron deficiency, renal failure,
polyneuropathy associated with diabetes
rheumatoid arthritis & pregnancy
Question
A parent with Huntington’s disease
has a _____% change of having a
child with Huntington’s disease?
1. 10%
2. 25%
3. 50%
4. 75%
Answer
3. A parent with Huntington’s
disease has a __50___% change of
having a child with Huntington’s
disease?
Question
What are some of the Movement disorders
seen in Huntington’s disease? (select all)
1. Abnormal and excessive involuntary
movement (chorea)
2. Writhing, twisting movements of face,
limbs and body
3. Short, shuffling gait
4. Inability to initiate movement
Answer
1. Abnormal and excessive involuntary
movement (chorea)
2. Writhing, twisting movements of face,
limbs and body
Short, shuffling gait and inability to initiate movement is
associated with Parkinson’s disease.
Question
What are principle pathologic features of
ALS? (select all that apply)
1. Excess of dopamine
2.Motor neurons in the brainstem and
spinal cord gradually degenerate
3.Dead motor neurons can not produce or
transport signals to muscles
4.Electrical and chemical messages from
brain do not reach muscles
Answer
2.Motor neurons in the brainstem and
spinal cord gradually degenerate
3.Dead motor neurons can not produce or
transport signals to muscles
4.Electrical and chemical messages from
brain do not reach muscles
In Huntington’s disease is an excess of dopamine found, but not
in ALS.
Question
Which of these manifestations, would a
nurse identify in a client with ALS?
1. Dysphagia
2. Spasticity
3. Paranoia
4. Drooling
Answer
1.Dysphagia
2.Spasticity
4.Drooling
Paranoia is not associated with ALS.
Question
What are principle pathologic features of
Myasthenia gravis?
1.Antibodies attack acetylcholine (ACh)
receptors
2.Neurofibrillary tangles
3. Decreased number of ACh receptor
(AChR) sites at neuromuscular junction
4. Deficiency of gamma aminobutyric acid
Answer
1.Autoimmune process, antibodies attack
acetylcholine (ACh) receptors
3.Decreased number of ACh receptor
(AChR) sites at neuromuscular junction, ACh
molecules can’t attach and stimulate muscle
contraction
Neurofibrillary tangles are associated with Alzheimer
disease and deficiency of gamma aminobutyric acid is
found in Huntington’s disease
Question
What are some Nursing diagnosis
for Myasthenia Gravis? (select all
that apply)
1. Ineffective breathing pattern
2. Activity intolerance
3. Impaired verbal communication
4. Impaired memory
Answer
1. Ineffective breathing pattern
2.Activity intolerance
3.Impaired verbal communication
Memory is not impaired with MG