Chronic NeurologicalDiseases

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 neuropathy3. Brainstem disinhibition phenomenon

resulting in motor and sensory disturbances

Clinical Manifestations

Sensory symptoms

• 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

Motor abnormalities

• 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

• 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

Movement disorders

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 Americahttp://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 crisisMyasthenic 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 drugsIncreased 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 agentsSurgery• ThymectomyPlasmapheresisSecond 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 fatigue3. Be free from side effects of drugs4. Avoid complications5. 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.Lithium2.Acetaminophen3. Ibuprofen 4. Diphenhydramine

Answer

1. Lithium4. Diphenhydramine

Lithium and diphenhydramine (an antihistamine) can cause or worsen RLS

Question

Secondary RLS is caused bymetabolic abnormalities associated with what diseases? (select all that apply)1. Hyperthyroidism2. Renal failure3. Deficient iron condition4. Hypothyroidism

Answer

2. Renal failure3. Deficient iron condition

Secondary causes for RLS include metabolic abnormalities associated with: iron deficiency, renal failure,polyneuropathy associated with diabetesrheumatoid 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 body3. Short, shuffling gait4. 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 dopamine2.Motor neurons in the brainstem and spinal cord gradually degenerate 3.Dead motor neurons can not produce or transport signals to muscles4.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 muscles4.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. Dysphagia2. Spasticity3. Paranoia4. Drooling

Answer

1.Dysphagia2.Spasticity4.Drooling

Paranoia is not associated with ALS.

Question

What are principle pathologic features of Myasthenia gravis?1.Antibodies attack acetylcholine (ACh) receptors2.Neurofibrillary tangles3. Decreased number of ACh receptor (AChR) sites at neuromuscular junction4. Deficiency of gamma aminobutyric acid

Answer

1.Autoimmune process, antibodies attack acetylcholine (ACh) receptors3.Decreased number of ACh receptor (AChR) sites at neuromuscular junction, ACh molecules can’t attach and stimulate muscle contractionNeurofibrillary 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 pattern2. Activity intolerance3. Impaired verbal communication4. Impaired memory

Answer

1. Ineffective breathing pattern2.Activity intolerance3.Impaired verbal communication

Memory is not impaired with MG