Alzheimer’s Disease

Diagnosis

• >history and by exclusion of the other disorder

• >autopsy-Neurofillary tangles and senile plaques

Stage # 1

• >Forgetfulness• >Mild memory lapses• >Short attention span• >Decrease interest in

personal affairs • >subtle behavior

changes

Stage # 2• >short term memory

Lapses• >hesitant speech• >confabulation to hide

memory problems• >misplace item• >rerespettitive

behavior

Stage #3• >Disoriented to

person,place,time• >wanders• >Apraxia-impairment

in the ability to perform purposeful acts or to manipulate objects

Stage # 4• >Terminal Stage• >severe physical and

mental deterioriation• >No recognition of

self/others• >completely

dependent• >incontinent• >Aphasia• >Dysphagia

Medical Management

• >manage symptoms-depression, agitation

• >tacrine (Cognex-memory and cognition

Nursing Care

• Goals

• >maintain functional ability as long as possible

• >maintain safe environment

• >help meet personal care needs

Amyotrophic Lateral Amyotrophic Lateral SclerosisSclerosis

a disease of unknown cause in which a disease of unknown cause in which there is a loss of motor neurons in the there is a loss of motor neurons in the anterior horns of the spinal cord and motor anterior horns of the spinal cord and motor nuclei of the lower brain stem.nuclei of the lower brain stem.

Pathophysiology:Pathophysiology:Idiopathic cause, autoimmune dse., free radical damageIdiopathic cause, autoimmune dse., free radical damage

Overexcitation of nerve cells byOverexcitation of nerve cells by

Neurotransmitter GlutaneNeurotransmitter Glutane loss of motor neurons (anterior loss of motor neurons (anterior horns of spinal cord) (motor nuclei of lower horns of spinal cord) (motor nuclei of lower

brain stem)brain stem)

cell deathcell death

muscle atrophymuscle atrophy

degeneration of neurons in upper and lower motor neuron systemdegeneration of neurons in upper and lower motor neuron system

Assessment and Assessment and Diagnostic MethodsDiagnostic Methods

Diagnosis is based Diagnosis is based on the sign and on the sign and symptoms of the symptoms of the diseasedisease

EMG EMG (electromyogram)(electromyogram)

MRI (magnetic MRI (magnetic resonance imaging)resonance imaging)

Clinical Manifestations Clinical Manifestations depends on the depends on the

location of the affected location of the affected motor neuronsmotor neurons

Chief symptoms: Chief symptoms: fatiguefatigue progressive muscle progressive muscle

weaknessweakness crampscramps fasciculation (twitching)fasciculation (twitching) incoordinationincoordination

Clinical Manifestations Clinical Manifestations

Loss of Motor Neurons in Anterior Horns of Spinal CordLoss of Motor Neurons in Anterior Horns of Spinal Cord progressive weakness and atrophy of the arms, trunk and leg progressive weakness and atrophy of the arms, trunk and leg

musclesmuscles spasticity; deep tendon reflexes are brisk and overactivespasticity; deep tendon reflexes are brisk and overactive

Weakness in Muscles supplied by Cranial NervesWeakness in Muscles supplied by Cranial Nerves difficulty talking, swallowing, and ultimately breathingdifficulty talking, swallowing, and ultimately breathing soft palate and upper esophageal weakness, causing fluids to be soft palate and upper esophageal weakness, causing fluids to be

regurgitated though noseregurgitated though nose impaired ability to laugh, cough, or blow the noseimpaired ability to laugh, cough, or blow the nose

Bulbar Muscle ImpairmentBulbar Muscle Impairment progressive difficulty in speaking, swallowing and aspirationprogressive difficulty in speaking, swallowing and aspiration nasal voice and unintelligible speechnasal voice and unintelligible speech emotional lability, but intellectual function unimpairedemotional lability, but intellectual function unimpaired compromised respiratory functioncompromised respiratory function

Medical ManagementMedical Management no specific treatment for ALSno specific treatment for ALS Supportive and Rehabilitative Supportive and Rehabilitative

MeasuresMeasures Baclofen, dantrolen Baclofen, dantrolen

sodium, or diazepam sodium, or diazepam for for spasticityspasticity

Quinine Quinine for muscle crampsfor muscle cramps Riluzole Riluzole a glutamate a glutamate

antagonistantagonist Enteral Feedings Enteral Feedings

((percutaneous endoscopic percutaneous endoscopic gastrotomy [PEG]gastrotomy [PEG]) ) for for patients with aspiration or patients with aspiration or swallowing difficulties swallowing difficulties

Medical ManagementMedical Management

Mechanical VentilationMechanical Ventilation decision is based on decision is based on

patient and family’s patient and family’s understanding of the understanding of the disease, prognosis, and disease, prognosis, and implications of initiating implications of initiating such therapysuch therapy

encourage patient to encourage patient to complete an advance complete an advance directive or “living will” to directive or “living will” to preserve autonomypreserve autonomy

Nursing ManagementNursing Management Improving Respiratory FunctionImproving Respiratory Function assess respiratory status frequently and monitor assess respiratory status frequently and monitor

the results of pulmonary function tests to detect the results of pulmonary function tests to detect pulmonary problemspulmonary problems

provide chest physical therapy, including postural provide chest physical therapy, including postural drainage, to mobilize secretions and suction to drainage, to mobilize secretions and suction to remove secretionsremove secretions

acknowledge patients fear and give assuranceacknowledge patients fear and give assurance avoid sedatives and tranquilizers; can aggravate avoid sedatives and tranquilizers; can aggravate

hypoxia and hypercapnia and can cause hypoxia and hypercapnia and can cause respiratory and cardiac depressionrespiratory and cardiac depression

Increasing Physical Increasing Physical MobilityMobility emphasize importance of taking emphasize importance of taking

medications on time to improve strength medications on time to improve strength and enduranceand endurance

teach patient to avoid factors that may teach patient to avoid factors that may increase weakness increase weakness

Improving Improving CommunicationCommunication

teach patient with weakened speech teach patient with weakened speech muscles techniques for improving muscles techniques for improving communicationcommunication

Preventing AspirationPreventing Aspiration

assess for drooling, regurgitation through the assess for drooling, regurgitation through the nose and choking while attempting to swallownose and choking while attempting to swallow

provide standby suctionprovide standby suction encourage rest before meals; place patient in an encourage rest before meals; place patient in an

upright position to facilitate swallowingupright position to facilitate swallowing provide soft foods that are easily swallowedprovide soft foods that are easily swallowed

Low back pain is a significant public health Low back pain is a significant public health disorder in USdisorder in US

Acute low back pain has a duration of less Acute low back pain has a duration of less than 3 months; chronic or degenerative than 3 months; chronic or degenerative disease has a duration of 3 months or disease has a duration of 3 months or longerlonger

The intervertebral disc is a cartilaginous plate that forms a cushion between the The intervertebral disc is a cartilaginous plate that forms a cushion between the vertebral bodiesvertebral bodies

In herniation of the intervertebral disc, the nucleus of the disc protrudes into the In herniation of the intervertebral disc, the nucleus of the disc protrudes into the annulus, with subsequent nerve compressionannulus, with subsequent nerve compression

Protrusion of rupture of the nucleus pulposus usually is preceded by Protrusion of rupture of the nucleus pulposus usually is preceded by degenerative changes that occur with agingdegenerative changes that occur with aging

Loss of protein polysaccharides in the disc decreases the water content of the Loss of protein polysaccharides in the disc decreases the water content of the nucleus pulposusnucleus pulposus

The development of the radiating cracks in the annulus weakens resistance to The development of the radiating cracks in the annulus weakens resistance to nucleus herniationnucleus herniation

After trauma, the cartilage maybe injured.After trauma, the cartilage maybe injured. With degeneration in the disc, the capsule that incorporates fibrous material With degeneration in the disc, the capsule that incorporates fibrous material

pushes back into the spinal canal, or it may rupture and allow the nucleus pushes back into the spinal canal, or it may rupture and allow the nucleus pulposus to be pushed back against the dural sac or against the spinal nerve as pulposus to be pushed back against the dural sac or against the spinal nerve as it emerges from the spinal columnit emerges from the spinal column

This sequence produces pain due to pressure in the area of distribution of the This sequence produces pain due to pressure in the area of distribution of the involved nerve endinginvolved nerve ending

Continued pressure may produced degenerative changes in the involved nerve, Continued pressure may produced degenerative changes in the involved nerve, such as changes in sensation and deep tendon reflexes.such as changes in sensation and deep tendon reflexes.

Herniated disc with accompanying pain Herniated disc with accompanying pain may occur in any portion of the spine: may occur in any portion of the spine: thoracic (rare), or lumbarthoracic (rare), or lumbar

Clinical manifestations depend on the Clinical manifestations depend on the location, rate of development and the effect location, rate of development and the effect on the surrounding structureson the surrounding structures

Thorough health history and physical examination Thorough health history and physical examination are important to rule out potentially serious are important to rule out potentially serious conditions that may present as low back pain, conditions that may present as low back pain, including fractures, tumors, infection or cauda including fractures, tumors, infection or cauda equina syndromeequina syndrome

MRI for localizing even small disc protrusions, MRI for localizing even small disc protrusions, particularly for lumbar spine diseaseparticularly for lumbar spine disease

CT and myelographyCT and myelography Neurologic exams to determine if there is reflex, Neurologic exams to determine if there is reflex,

sensory, or motor impairment from root sensory, or motor impairment from root compression and provide a baseline for rupture compression and provide a baseline for rupture assessmentassessment

Bed rest and medicationsBed rest and medications

Discectomy:Discectomy: removal of the herniated or removal of the herniated or extruded fragments of intervertebral discextruded fragments of intervertebral disc

LaminectomyLaminectomy: removal of the bone between the : removal of the bone between the spinal process and facet pedicle, junction to spinal process and facet pedicle, junction to expose the neural elements in the spinal canalexpose the neural elements in the spinal canal

Hemilaminectomy:Hemilaminectomy: removal of the part of the removal of the part of the lamina and part of the posterior arch of the lamina and part of the posterior arch of the vertebravertebra

Foraminotomy:Foraminotomy: removal of the intervertebral removal of the intervertebral foramen to increase the space for exit of a spinal foramen to increase the space for exit of a spinal nerve, resulting in reduced pain, compression and nerve, resulting in reduced pain, compression and edemaedema

Parkinson’s DiseaseParkinson’s Disease

Clinical ManifestationClinical Manifestation>Ridigity>Ridigity

>Tremors>Tremors

>Bradykinesia>Bradykinesia

>Difficulty in Balance>Difficulty in Balance

>Difficulty in Walking>Difficulty in Walking

Assessment and DiagnosisAssessment and Diagnosis

>>Laboratory test and imaging studies Laboratory test and imaging studies are helpful to the clinician in are helpful to the clinician in diagnosing Parkinson's disease.diagnosing Parkinson's disease.

>PET>PET

>SPECT>SPECT

Medical ManagementMedical Management LevodopaLevodopa Levodopa-Carbidopa (Sinemet)Levodopa-Carbidopa (Sinemet) Sinemet CRSinemet CR PermaxPermax Amantadine (Symmentrel)Amantadine (Symmentrel) -Drug Holidays-Drug Holidays Anticholinergics (for tremors)Anticholinergics (for tremors) -Artane-Artane -Cogentin-Cogentin Mao Inhibitors (for bradykinesia,rigidity,tremor)Mao Inhibitors (for bradykinesia,rigidity,tremor) -Eldepryl-Eldepryl -Inhibits dopamine Breakdown -Inhibits dopamine Breakdown

Nursing managementNursing management Encourage IndependentEncourage Independent

>Mobility>Mobility -Ambulate with hands behind -Ambulate with hands behind

back back -Passive/Active ROM-Passive/Active ROM -Firm bed without pillow - -Firm bed without pillow -

-Modify Clothing -Modify Clothing - Remove rags excess furnitures- Remove rags excess furnitures

Nutrition Nutrition -Soft foods-Soft foods -Small, frequent -Small, frequent mealsmeals

-Swallowing -Swallowing precautionsprecautions

CommunicationCommunication -Encourage to speak slowly-Encourage to speak slowly -Nonverbal if verbal not -Nonverbal if verbal not

possiblepossible

>Coping>Coping

Parkinson’s DiseaseParkinson’s Disease

Hernation of a Cervical Hernation of a Cervical Intervertebral DiskIntervertebral Disk

Diagnostic TestDiagnostic Test

>CT Scan or MRI>CT Scan or MRI >Electromyography->Electromyography-

define particular root define particular root involveinvolve

Clinical ManifestationClinical Manifestation

>pain in the neck Radiating down one arm>pain in the neck Radiating down one arm >pain in the upper extremities radiating >pain in the upper extremities radiating

down in one legdown in one leg >numbness or weakness in the muscle >numbness or weakness in the muscle

innervated by the effected spinal nevre root.innervated by the effected spinal nevre root.

Medical ManagementMedical Management >Goal of treatment>Goal of treatment 1. To rest and immobilize the cervical spine to 1. To rest and immobilize the cervical spine to

give the soft tissue time to healgive the soft tissue time to heal 2.To Reduce inflammation in supporting tissue 2.To Reduce inflammation in supporting tissue

and the affected nerve roots in the cervical spineand the affected nerve roots in the cervical spine >Bed Rest- 1 or 2 days to reduce inflammation >Bed Rest- 1 or 2 days to reduce inflammation

and edema in soft tissues around the disk.and edema in soft tissues around the disk. -its eliminates the stress of gravity and -its eliminates the stress of gravity and

relieve the cervical spine from the need to support relieve the cervical spine from the need to support the head.the head.

Pharmacologic TherapyPharmacologic Therapy

>Analgesic agents>Analgesic agents -(NSAID’S,propoxyphene -(NSAID’S,propoxyphene

(Darvon),oxydone (tylox) or Hydrocodone (Darvon),oxydone (tylox) or Hydrocodone (Vicodin)(Vicodin)

>Sedative>Sedative >Muscle Relaxant>Muscle Relaxant

Hernation of the Hernation of the Lumbar DiskLumbar Disk

Clinical ManifestationClinical Manifestation

>Low back pain with muscle spasms>Low back pain with muscle spasms >Radiation of pain into one hip and >Radiation of pain into one hip and

down into the Legdown into the Leg >Pain is aggravate by action by >Pain is aggravate by action by

increase intraspinal fluid pressure (bleeding, increase intraspinal fluid pressure (bleeding, lifiting,straining)lifiting,straining)

>muscle weakness>muscle weakness >sensory Loss>sensory Loss

Assessment and Diagnosis FindingsAssessment and Diagnosis Findings

>History and physical >History and physical findingsfindings

>MRI>MRI >CT Scan>CT Scan >Myelography>Myelography

Medical ManagementMedical Management >Bed rest for 1 to 2 days on firm mattress)>Bed rest for 1 to 2 days on firm mattress)

( to limit spinal flexion) is encourage to ( to limit spinal flexion) is encourage to reduce the weight load and gravitational reduce the weight load and gravitational forces. forces.

>Semi-Fowler’s position with >Semi-Fowler’s position with moderate hip and knee flexion release the moderate hip and knee flexion release the back muscle.back muscle.

>Muscle Relaxants>Muscle Relaxants

Surgical Surgical ManagementManagement

Lumabar Disk through Lumabar Disk through postero Lateral postero Lateral DiscectomyDiscectomy

Huntington’s DiseaseHuntington’s Disease

A chronic, progressive, hereditary disease of the nervous A chronic, progressive, hereditary disease of the nervous

system that result in progressive system that result in progressive involuntary choreiform involuntary choreiform

movementmovement and dementiaand dementia in approximately 1 in 10,000 in approximately 1 in 10,000

individuals.individuals.

A widespread degenerative brain change with progressive motor A widespread degenerative brain change with progressive motor

loss, both voluntary and involuntary disability, cognitive decline, loss, both voluntary and involuntary disability, cognitive decline,

chorea, at later stage, psychotic disturbances.chorea, at later stage, psychotic disturbances.

Known historically as Known historically as HUNTINGTON’S CHOREAHUNTINGTON’S CHOREA or or CHOREA CHOREA

MAIOR.MAIOR.

A rare inherited A rare inherited neurological disorderneurological disorder..

One of the first inherited genetic disorder for which an accurate test One of the first inherited genetic disorder for which an accurate test

could be performed.could be performed.

Onset usually occurs between the ages of 35 – 45 years, although Onset usually occurs between the ages of 35 – 45 years, although

about 10% of patients are children.about 10% of patients are children.

Transmitted as an Transmitted as an AUTOSOMAL DOMINANTAUTOSOMAL DOMINANT genetic disorder, genetic disorder,

means each children of a parent with Huntington’s disease has a means each children of a parent with Huntington’s disease has a

50% risk of inheriting the disorder.50% risk of inheriting the disorder.

Named from the New York physician, Named from the New York physician, George HuntingtonGeorge Huntington who who

describe it concisely and precisely in 1872 in his first medical study.describe it concisely and precisely in 1872 in his first medical study.

PathophysiologyPathophysiology

Premature death of cells in the striatum (caudate and Premature death of cells in the striatum (caudate and

putamen) of the basal ganglia,putamen) of the basal ganglia, the region deep within the brain the region deep within the brain

that is involved in the control of movement.that is involved in the control of movement.

Absence of cell in the cortexAbsence of cell in the cortex, the region of the brain associated , the region of the brain associated

with thinking, memory, perception and judgment, and with thinking, memory, perception and judgment, and in the in the

cerebellumcerebellum, the area that coordinates voluntary muscle activity., the area that coordinates voluntary muscle activity.

There is also There is also astrogliosis astrogliosis and loss of medium spiny neurons. and loss of medium spiny neurons.

This result in the selective degeneration of the indirect (inhibitory) This result in the selective degeneration of the indirect (inhibitory)

pathway of the basal ganglia, via the lateral and the subthalamic pathway of the basal ganglia, via the lateral and the subthalamic

nucleus coupled pacemaker system.nucleus coupled pacemaker system.

GLUTAMINE GLUTAMINE – the building block for proteins that abnormally – the building block for proteins that abnormally

collects in the cells of the nucleus, causing cell death.collects in the cells of the nucleus, causing cell death.

Why the protein destroys only certain brain cells is Why the protein destroys only certain brain cells is unknown.unknown.

The disease progress slowly.The disease progress slowly.

  Despite a nervous appetite, patients usually become emaciated Despite a nervous appetite, patients usually become emaciated

and exhausted.and exhausted.

  Patients succumb in 10 – 20 years to heart failure, pneumonia, Patients succumb in 10 – 20 years to heart failure, pneumonia,

or infection or as result of a fall or choking.or infection or as result of a fall or choking.

Clinical manifestationsClinical manifestations

The most prominent clinical features areThe most prominent clinical features are

Chorea – abnormal involuntary movementsChorea – abnormal involuntary movements

Intellectual declineIntellectual decline

Emotional disturbanceEmotional disturbance

Progression of the disease:Progression of the disease:

Constant writhing, twisting, uncontrollable movement of the entire bodyConstant writhing, twisting, uncontrollable movement of the entire body

--These motions are devoid of purpose or rhythm, although patients These motions are devoid of purpose or rhythm, although patients

may try to turn them into purposeful movement.may try to turn them into purposeful movement. It involves different musculature:It involves different musculature:

Facial movements produce tics and grimacesFacial movements produce tics and grimaces

Slurred speech, hesitant, often explosive , and eventually unintelligible.Slurred speech, hesitant, often explosive , and eventually unintelligible.

Difficulty of swallowing and chewing and there is a constant danger of Difficulty of swallowing and chewing and there is a constant danger of

choking and aspiration.choking and aspiration.

Choreiform movementsChoreiform movements persist during sleep but are diminished. persist during sleep but are diminished.

The gait becomes disorganized to the point that ambulation eventually is The gait becomes disorganized to the point that ambulation eventually is

possible.possible.

Bladder and bowel control is lost.Bladder and bowel control is lost.

Personality changes may result in nervous, irritable or impatient behaviors.Personality changes may result in nervous, irritable or impatient behaviors.

Uncontrollable movements of the mouth, eating and mobility are extremely Uncontrollable movements of the mouth, eating and mobility are extremely

difficult.difficult.

Cognitive:Cognitive:

Cognitive function is usually affected with Cognitive function is usually affected with

dementia usually occurring.dementia usually occurring.

Impaired judgment and memoryImpaired judgment and memory

Slowing of thought processes to control muscle.Slowing of thought processes to control muscle.

Psychopathological:Psychopathological:

Uncontrollable fits of anger, profound, often suicidal Uncontrollable fits of anger, profound, often suicidal

depression, apathy, anxiety, psychosis, or euphoria, disgust, depression, apathy, anxiety, psychosis, or euphoria, disgust,

fear or sadness in others.fear or sadness in others.

Hallucinations, delusions, and paranoid thinking may precede Hallucinations, delusions, and paranoid thinking may precede

the appearance of disjointed movements.the appearance of disjointed movements.

Egocentrism, aggressive behavior, compulsivity which can Egocentrism, aggressive behavior, compulsivity which can

cause addictions such as alcoholism and gambling or cause addictions such as alcoholism and gambling or

hypersexuality.hypersexuality.

Emotional and cognitive symptoms often become less acute as Emotional and cognitive symptoms often become less acute as

the disease progresses.the disease progresses.

  

Assessment and Assessment and Diagnostic FindingsDiagnostic Findings

Presymptomatic TestingPresymptomatic Testing – provides asymptomatic people with – provides asymptomatic people with

information about the presence of a genetic mutation and about the information about the presence of a genetic mutation and about the

likelihood of developing the disease.likelihood of developing the disease.

-  -  by means of blood test which counts the number of repetitions in by means of blood test which counts the number of repetitions in

the gene.the gene.

-  -  The genetic mutation predicts disease onset and progression.The genetic mutation predicts disease onset and progression.

-   -   The diagnosis made is based on the clinical presentation of the The diagnosis made is based on the clinical presentation of the

characteristic symptoms, a positive family history and exclusion of characteristic symptoms, a positive family history and exclusion of

other causes.other causes.

To determine whether initial symptoms are evident, To determine whether initial symptoms are evident, a physical and/or a physical and/or psychological examination is required.psychological examination is required.

  

The uncontrollable movement is often the symptoms which cause the The uncontrollable movement is often the symptoms which cause the initial alarm and lead to diagnosis.initial alarm and lead to diagnosis.

  

A negative (-) blood testA negative (-) blood test means that the individual doesn’t carry the means that the individual doesn’t carry the expanded copy of the gene, will never develop symptoms and cannot expanded copy of the gene, will never develop symptoms and cannot pass it on to children.pass it on to children.

  

A positive (+) blood testA positive (+) blood test means that the individual does carry the means that the individual does carry the expanded copy of the gene, will develop the disease, and has 50% expanded copy of the gene, will develop the disease, and has 50% chance of passing it on to children.chance of passing it on to children.

  

A presymptomatic positive blood testA presymptomatic positive blood test is not considered as diagnosis, is not considered as diagnosis, because it may be decades before onset.because it may be decades before onset.

Several counseling sessions are usually Several counseling sessions are usually

required because with no cure for the required because with no cure for the

disease and no proving way of slowing it.disease and no proving way of slowing it.

Death of brain cells is still on searchingDeath of brain cells is still on searching..

ManagementManagement

There is There is no treatment halts or reversesno treatment halts or reverses the underlying the underlying

process, but symptoms can be reduced or alleviated through the process, but symptoms can be reduced or alleviated through the

use of medication and care methods.use of medication and care methods.

Physicians prescribe a number of medication to help control Physicians prescribe a number of medication to help control

emotional and movement problems.emotional and movement problems.

Most drugs used to treat the symptoms of Huntington’s Disease Most drugs used to treat the symptoms of Huntington’s Disease

have side effects such as fatigue, restlessness, or have side effects such as fatigue, restlessness, or

hyperexcitability.hyperexcitability.

It is important for people with HD to maintain physical fitness as It is important for people with HD to maintain physical fitness as

much as possible.much as possible.

Medications to reduced chorea:Medications to reduced chorea:

a)a)    Predominantly block dopamine receptors, improve the chorea Predominantly block dopamine receptors, improve the chorea

in many patients:in many patients:

- Thiothixene Hydrochloride (Navane)- Thiothixene Hydrochloride (Navane)

- Haloperidol Decanoate (Haldol)- Haloperidol Decanoate (Haldol)

b)b)    A double-blind multi center study of Riluzole (Rilutek) showed A double-blind multi center study of Riluzole (Rilutek) showed

chorea was reduced in the group that receive 200 mg / day chorea was reduced in the group that receive 200 mg / day

compared with those who received a placebo or 100 mg / day compared with those who received a placebo or 100 mg / day

of medication.of medication.

c.) c.) Antidepressants Antidepressants for patients with emotional for patients with emotional

disturbances, particularly depression.disturbances, particularly depression.

d.) d.) Antipsychotic medications Antipsychotic medications (in low doses)(in low doses)

for patients with psychotic symptoms.for patients with psychotic symptoms.

Psychotherapy aimed at allaying anxiety and reduced stress.Psychotherapy aimed at allaying anxiety and reduced stress.

Motor signs must be assessed and evaluated on an on-going basis Motor signs must be assessed and evaluated on an on-going basis

so that optimal therapeutic drug levels can be reached.so that optimal therapeutic drug levels can be reached.

Akathisia Akathisia – motor restlessness, dangerous in overmedicated – motor restlessness, dangerous in overmedicated

patients because it may mistaken for the restless fidgeting of the patients because it may mistaken for the restless fidgeting of the

illness and consequently may be overlooked.illness and consequently may be overlooked.

Nurses must look beyond the disease to focus on the patient’s needs Nurses must look beyond the disease to focus on the patient’s needs

and capabilities.and capabilities.

Remotivation therapy and a more stimulating environment to patient’s Remotivation therapy and a more stimulating environment to patient’s

with HD improved physical, mental, and social functioning.with HD improved physical, mental, and social functioning.

Promoting Home and Promoting Home and Community – Based CareCommunity – Based Care

Teaching Patient Self Care:Teaching Patient Self Care:

The patient and family members are taught about the medications The patient and family members are taught about the medications

prescribed and about signs indicating a need for change in medication prescribed and about signs indicating a need for change in medication

dosage.dosage.

Teaching plan on how to manage symptoms such as chorea, swallowing Teaching plan on how to manage symptoms such as chorea, swallowing

problems, limitations in ambulation and loss of bowel and bladder function.problems, limitations in ambulation and loss of bowel and bladder function.

Consultation with a speech therapist to assist in identifying alternative Consultation with a speech therapist to assist in identifying alternative

communication strategies if speech is affected.communication strategies if speech is affected.

Genetic counseling after presymptomatic testing is crucial and it requires Genetic counseling after presymptomatic testing is crucial and it requires

long term psychological counseling and emotional, financial, and legal long term psychological counseling and emotional, financial, and legal

support for the patient and family.support for the patient and family.

Continuing Care:Continuing Care:

The family needs supporting care as they adjust to the impact of the The family needs supporting care as they adjust to the impact of the

illness.illness.

Regular follow-up visits help allay the fear of abandonment.Regular follow-up visits help allay the fear of abandonment.

Home care assistance, day care centers respite care and eventually Home care assistance, day care centers respite care and eventually

skilled long-term care can assist the patient and family in coping skilled long-term care can assist the patient and family in coping

with the constant stain of the illness.with the constant stain of the illness.

Voluntary organizations can be major aids to families and have been Voluntary organizations can be major aids to families and have been

largely responsible for bringing the illness to national attention.largely responsible for bringing the illness to national attention.

Functions of the Cerebral CortexFunctions of the Cerebral Cortex

Huntington’s disease affects the cerebral cortex, a part of Huntington’s disease affects the cerebral cortex, a part of

the brain that controls thought, perception, memory, and the brain that controls thought, perception, memory, and

other complex functions. Many motor and sensory other complex functions. Many motor and sensory

functions have been “mapped” to specific areas of the functions have been “mapped” to specific areas of the

cerebral cortex, some of which are indicated here. cerebral cortex, some of which are indicated here.

Huntington’s disease also affects other areas of the Huntington’s disease also affects other areas of the

brain involved in movement and coordination.brain involved in movement and coordination.

Muscular DystrophyMuscular DystrophyGroup of incurable muscle disorders Group of incurable muscle disorders characterized by progressive weakening characterized by progressive weakening and wasting of voluntary muscles.and wasting of voluntary muscles.Defects in muscle proteins and the death Defects in muscle proteins and the death of the muscle cell and tissue.of the muscle cell and tissue.

PathophysiologyPathophysiologyThe common clinical features of these disorders The common clinical features of these disorders are muscle weakness. Dystrophin and other are muscle weakness. Dystrophin and other associated proteins from a link between extra associated proteins from a link between extra cellular matrix and intra cellular F-actin. It seems cellular matrix and intra cellular F-actin. It seems that the absence of anyone of these proteins that the absence of anyone of these proteins would interfere with the integrity and the strength would interfere with the integrity and the strength of the membrane and so result in muscle of the membrane and so result in muscle weakness. But at least in the case of the weakness. But at least in the case of the dystrophin, the proteins about which must is dystrophin, the proteins about which must is known, the evidence is still equivocal as to how known, the evidence is still equivocal as to how its absence results in muscle weakness.its absence results in muscle weakness.

Clinical ManifestationClinical Manifestation Progressive muscle wasting (weakness)Progressive muscle wasting (weakness) Poor balancePoor balance Frequent fallsFrequent falls Walking difficultyWalking difficulty Wadding GaitWadding Gait Calf painCalf pain Muscle contracturesMuscle contractures dropping eyelids (ptosis)dropping eyelids (ptosis) ScoliosisScoliosis Inability to walkInability to walk

Possible ComplicationPossible Complication

ScoliosisScoliosisCardiomyopathyCardiomyopathyDecrease mobilityDecrease mobilityJoint contracturesJoint contracturesRespiratory failureRespiratory failure

Assessment and DiagnosisAssessment and DiagnosisMuscle BiopsyMuscle BiopsyDNA blood testDNA blood testserum CPKserum CPKEMGEMGECGECGCreatinineCreatinineASTASTAldolaseAldolase

Types of Muscular DystrophiesTypes of Muscular Dystrophies

Becker’s muscular dystrophy (BMD)Becker’s muscular dystrophy (BMD), is a less , is a less severe variant of Duchenne dystrophy and is severe variant of Duchenne dystrophy and is caused by production of a truncated but partially caused by production of a truncated but partially functional form of dystrophy.functional form of dystrophy.

Congenital muscular dystrophy (CMD)Congenital muscular dystrophy (CMD), Age at , Age at onset: Birth: symptoms include muscle weakness onset: Birth: symptoms include muscle weakness and possible joint deformities. Shorten lifespanand possible joint deformities. Shorten lifespan

Duchene Muscular Dystrophy (DMD)Duchene Muscular Dystrophy (DMD), is , is the most common childhood form of the most common childhood form of muscular dystrophy. It usually begin when muscular dystrophy. It usually begin when a child is started to walk. Patient require a a child is started to walk. Patient require a wheelchair by age 10-12 and die in their wheelchair by age 10-12 and die in their late teens or early 20’s.late teens or early 20’s.

Distal Muscular DystrophyDistal Muscular Dystrophy, Age at , Age at onset: 40-60 yrs old. Symptoms include onset: 40-60 yrs old. Symptoms include weakness and wasting of muscle on the weakness and wasting of muscle on the hands forearms and lower legs. It is not hands forearms and lower legs. It is not life threatening.life threatening.

Fasciocapulohumeral muscular dystrophy Fasciocapulohumeral muscular dystrophy (FMD)(FMD), initially affect muscles of the face, , initially affect muscles of the face, shoulders and upper arm with weakness. shoulders and upper arm with weakness. Symptoms usually develop in the teenage years Symptoms usually develop in the teenage years and some affected become severely disable.and some affected become severely disable.

Myotonic Muscular Dystrophy (MMD)Myotonic Muscular Dystrophy (MMD), age at , age at onset: 20-40yrs old. Is most common adult form onset: 20-40yrs old. Is most common adult form of muscular dystrophy. It is mark by myotonia of muscular dystrophy. It is mark by myotonia and as well as muscle wasting and weakness. It and as well as muscle wasting and weakness. It affects many body systems like eyes, heart, GIT affects many body systems like eyes, heart, GIT and endocrine gland.and endocrine gland.

MANAGEMENTMANAGEMENT it focuses on supportive care and prevention of it focuses on supportive care and prevention of

complicationscomplicationsan individualized therapeutic exercise is prescribed an individualized therapeutic exercise is prescribed

to prevent muscle tightness, contracture and disuse to prevent muscle tightness, contracture and disuse atrophy.atrophy.

Night splint and stretching exercise are use to delay Night splint and stretching exercise are use to delay contracture of the joints, ankles, knees, and hips.contracture of the joints, ankles, knees, and hips.

to prevent spinal deformity the patient is fitted with to prevent spinal deformity the patient is fitted with orthotic jacket to improve sitting stability.orthotic jacket to improve sitting stability.