Neurotransmitter Glutane loss of motor neurons (anterior horns of spinal cord) (motor nuclei of lower brain stem)
degeneration of neurons in upper and lower motor neuron system
Assessment and Diagnostic Methods
Diagnosis is based on the sign and symptoms of the disease
MRI (magnetic resonance imaging)
depends on the location of the affected motor neurons
progressive muscle weakness
Loss of Motor Neurons in Anterior Horns of Spinal Cord
progressive weakness and atrophy of the arms, trunk and leg muscles
spasticity; deep tendon reflexes are brisk and overactive
Weakness in Muscles supplied by Cranial Nerves
difficulty talking, swallowing, and ultimately breathing
soft palate and upper esophageal weakness, causing fluids to be regurgitated though nose
impaired ability to laugh, cough, or blow the nose
Bulbar Muscle Impairment
progressive difficulty in speaking, swallowing and aspiration
nasal voice and unintelligible speech
emotional lability, but intellectual function unimpaired
compromised respiratory function
no specific treatment for ALS
Supportive and Rehabilitative Measures
Baclofen, dantrolen sodium, or diazepam for spasticity
Quinine for muscle cramps
Riluzole a glutamate antagonist
Enteral Feedings ( percutaneous endoscopic gastrotomy [PEG] ) for patients with aspiration or swallowing difficulties
decision is based on patient and family’s understanding of the disease, prognosis, and implications of initiating such therapy
encourage patient to complete an advance directive or “living will” to preserve autonomy
Improving Respiratory Function
assess respiratory status frequently and monitor the results of pulmonary function tests to detect pulmonary problems
provide chest physical therapy, including postural drainage, to mobilize secretions and suction to remove secretions
acknowledge patients fear and give assurance
avoid sedatives and tranquilizers; can aggravate hypoxia and hypercapnia and can cause respiratory and cardiac depression
Increasing Physical Mobility
emphasize importance of taking medications on time to improve strength and endurance
teach patient to avoid factors that may increase weakness
teach patient with weakened speech muscles techniques for improving communication
assess for drooling, regurgitation through the nose and choking while attempting to swallow
provide standby suction
encourage rest before meals; place patient in an upright position to facilitate swallowing
provide soft foods that are easily swallowed
Low back pain is a significant public health disorder in US
Acute low back pain has a duration of less than 3 months; chronic or degenerative disease has a duration of 3 months or longer
The intervertebral disc is a cartilaginous plate that forms a cushion between the vertebral bodies
In herniation of the intervertebral disc, the nucleus of the disc protrudes into the annulus, with subsequent nerve compression
Protrusion of rupture of the nucleus pulposus usually is preceded by degenerative changes that occur with aging
Loss of protein polysaccharides in the disc decreases the water content of the nucleus pulposus
The development of the radiating cracks in the annulus weakens resistance to nucleus herniation
After trauma, the cartilage maybe injured.
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 pulposus to be pushed back against the dural sac or against the spinal nerve as it emerges from the spinal column
This sequence produces pain due to pressure in the area of distribution of the involved nerve ending
Continued pressure may produced degenerative changes in the involved nerve, such as changes in sensation and deep tendon reflexes.
Herniated disc with accompanying pain may occur in any portion of the spine: thoracic (rare), or lumbar
Clinical manifestations depend on the location, rate of development and the effect on the surrounding structures
Thorough health history and physical examination are important to rule out potentially serious conditions that may present as low back pain, including fractures, tumors, infection or cauda equina syndrome
MRI for localizing even small disc protrusions, particularly for lumbar spine disease
CT and myelography
Neurologic exams to determine if there is reflex, sensory, or motor impairment from root compression and provide a baseline for rupture assessment
Bed rest and medications
Discectomy: removal of the herniated or extruded fragments of intervertebral disc
Laminectomy : removal of the bone between the spinal process and facet pedicle, junction to expose the neural elements in the spinal canal
Hemilaminectomy: removal of the part of the lamina and part of the posterior arch of the vertebra
Foraminotomy: removal of the intervertebral foramen to increase the space for exit of a spinal nerve, resulting in reduced pain, compression and edema
>Difficulty in Balance
>Difficulty in Walking
Assessment and Diagnosis
> Laboratory test and imaging studies are helpful to the clinician in diagnosing Parkinson's disease.
Anticholinergics (for tremors)
Mao Inhibitors (for bradykinesia,rigidity,tremor)
-Inhibits dopamine Breakdown
-Ambulate with hands behind back -Passive/Active ROM
-Firm bed without pillow - -Modify Clothing
- Remove rags excess furnitures
-Small, frequent meals
-Encourage to speak slowly
-Nonverbal if verbal not possible
Hernation of a Cervical Intervertebral Disk
>CT Scan or MRI
>Electromyography-define particular root involve
>pain in the neck Radiating down one arm
>pain in the upper extremities radiating down in one leg
>numbness or weakness in the muscle innervated by the effected spinal nevre root.
>Goal of treatment
1. To rest and immobilize the cervical spine to give the soft tissue time to heal
2.To Reduce inflammation in supporting tissue and the affected nerve roots in the cervical spine
>Bed Rest- 1 or 2 days to reduce inflammation and edema in soft tissues around the disk.
-its eliminates the stress of gravity and relieve the cervical spine from the need to support the head.
-(NSAID’S,propoxyphene (Darvon),oxydone (tylox) or Hydrocodone (Vicodin)
Hernation of the Lumbar Disk
>Low back pain with muscle spasms
>Radiation of pain into one hip and down into the Leg
>Pain is aggravate by action by increase intraspinal fluid pressure (bleeding, lifiting,straining)
Assessment and Diagnosis Findings
>History and physical findings
>Bed rest for 1 to 2 days on firm mattress)( to limit spinal flexion) is encourage to reduce the weight load and gravitational forces.
>Semi-Fowler’s position with moderate hip and knee flexion release the back muscle.
Lumabar Disk through postero Lateral Discectomy
A chronic, progressive, hereditary disease of the nervous system that result in progressive involuntary choreiform movement and dementia in approximately 1 in 10,000 individuals.
A widespread degenerative brain change with progressive motor loss, both voluntary and involuntary disability, cognitive decline, chorea, at later stage, psychotic disturbances.
Known historically as HUNTINGTON’S CHOREA or CHOREA MAIOR.
A rare inherited neurological disorder .
One of the first inherited genetic disorder for which an accurate test could be performed.
Onset usually occurs between the ages of 35 – 45 years, although about 10% of patients are children.
Transmitted as an AUTOSOMAL DOMINANT genetic disorder, means each children of a parent with Huntington’s disease has a 50% risk of inheriting the disorder.
Named from the New York physician, George Huntington who describe it concisely and precisely in 1872 in his first medical study.
Premature death of cells in the striatum (caudate and putamen) of the basal ganglia, the region deep within the brain that is involved in the control of movement.
Absence of cell in the cortex , the region of the brain associated with thinking, memory, perception and judgment, and in the cerebellum , the area that coordinates voluntary muscle activity.
There is also astrogliosis and loss of medium spiny neurons. This result in the selective degeneration of the indirect (inhibitory) pathway of the basal ganglia, via the lateral and the subthalamic nucleus coupled pacemaker system.
GLUTAMINE – the building block for proteins that abnormally collects in the cells of the nucleus, causing cell death.
Why the protein destroys only certain brain cells is unknown.
The disease progress slowly.
Despite a nervous appetite, patients usually become emaciated and exhausted.
Patients succumb in 10 – 20 years to heart failure, pneumonia, or infection or as result of a fall or choking.
The most prominent clinical features are
Chorea – abnormal involuntary movements
Progression of the disease:
Constant writhing, twisting, uncontrollable movement of the entire body
- These motions are devoid of purpose or rhythm, although patients may try to turn them into purposeful movement.
It involves different musculature:
Facial movements produce tics and grimaces
Slurred speech, hesitant, often explosive , and eventually unintelligible.
Difficulty of swallowing and chewing and there is a constant danger of choking and aspiration.
Choreiform movements persist during sleep but are diminished.
The gait becomes disorganized to the point that ambulation eventually is possible.
Bladder and bowel control is lost.
Personality changes may result in nervous, irritable or impatient behaviors.
Uncontrollable movements of the mouth, eating and mobility are extremely difficult.
Cognitive function is usually affected with dementia usually occurring.
Impaired judgment and memory
Slowing of thought processes to control muscle.
Uncontrollable fits of anger, profound, often suicidal depression, apathy, anxiety, psychosis, or euphoria, disgust, fear or sadness in others.
Hallucinations, delusions, and paranoid thinking may precede the appearance of disjointed movements.
Egocentrism, aggressive behavior, compulsivity which can cause addictions such as alcoholism and gambling or hypersexuality.
Emotional and cognitive symptoms often become less acute as the disease progresses.
Assessment and Diagnostic Findings
Presymptomatic Testing – provides asymptomatic people with information about the presence of a genetic mutation and about the likelihood of developing the disease.
- by means of blood test which counts the number of repetitions in the gene.
- The genetic mutation predicts disease onset and progression.
- The diagnosis made is based on the clinical presentation of the characteristic symptoms, a positive family history and exclusion of other causes.
To determine whether initial symptoms are evident, a physical and/or psychological examination is required.
The uncontrollable movement is often the symptoms which cause the initial alarm and lead to diagnosis.
A negative (-) blood test means that the individual doesn’t carry the expanded copy of the gene, will never develop symptoms and cannot pass it on to children.
A positive (+) blood test means that the individual does carry the expanded copy of the gene, will develop the disease, and has 50% chance of passing it on to children.
A presymptomatic positive blood test is not considered as diagnosis, because it may be decades before onset.
Several counseling sessions are usually required because with no cure for the disease and no proving way of slowing it.
Death of brain cells is still on searching .
There is no treatment halts or reverses the underlying process, but symptoms can be reduced or alleviated through the use of medication and care methods.
Physicians prescribe a number of medication to help control emotional and movement problems.
Most drugs used to treat the symptoms of Huntington’s Disease have side effects such as fatigue, restlessness, or hyperexcitability.
It is important for people with HD to maintain physical fitness as much as possible.
Medications to reduced chorea:
a) Predominantly block dopamine receptors, improve the chorea in many patients:
- Thiothixene Hydrochloride (Navane)
- Haloperidol Decanoate (Haldol)
b) A double-blind multi center study of Riluzole (Rilutek) showed chorea was reduced in the group that receive 200 mg / day compared with those who received a placebo or 100 mg / day of medication.
c.) Antidepressants for patients with emotional disturbances, particularly depression.
d.) Antipsychotic medications (in low doses) for patients with psychotic symptoms.
Psychotherapy aimed at allaying anxiety and reduced stress.
Motor signs must be assessed and evaluated on an on-going basis so that optimal therapeutic drug levels can be reached.
Akathisia – motor restlessness, dangerous in overmedicated patients because it may mistaken for the restless fidgeting of the illness and consequently may be overlooked.
Nurses must look beyond the disease to focus on the patient’s needs and capabilities.
Remotivation therapy and a more stimulating environment to patient’s with HD improved physical, mental, and social functioning.
Promoting Home and Community – Based Care
Teaching Patient Self Care:
The patient and family members are taught about the medications prescribed and about signs indicating a need for change in medication dosage.
Teaching plan on how to manage symptoms such as chorea, swallowing problems, limitations in ambulation and loss of bowel and bladder function.
Consultation with a speech therapist to assist in identifying alternative communication strategies if speech is affected.
Genetic counseling after presymptomatic testing is crucial and it requires long term psychological counseling and emotional, financial, and legal support for the patient and family.
The family needs supporting care as they adjust to the impact of the illness.
Regular follow-up visits help allay the fear of abandonment.
Home care assistance, day care centers respite care and eventually skilled long-term care can assist the patient and family in coping with the constant stain of the illness.
Voluntary organizations can be major aids to families and have been largely responsible for bringing the illness to national attention.
Functions of the Cerebral Cortex
Huntington’s disease affects the cerebral cortex, a part of the brain that controls thought, perception, memory, and other complex functions. Many motor and sensory functions have been “mapped” to specific areas of the cerebral cortex, some of which are indicated here. Huntington’s disease also affects other areas of the brain involved in movement and coordination.
Group of incurable muscle disorders characterized by progressive weakening and wasting of voluntary muscles.
Defects in muscle proteins and the death of the muscle cell and tissue.
The common clinical features of these disorders are muscle weakness. Dystrophin and other associated proteins from a link between extra cellular matrix and intra cellular F-actin. It seems that the absence of anyone of these proteins would interfere with the integrity and the strength of the membrane and so result in muscle weakness. But at least in the case of the dystrophin, the proteins about which must is known, the evidence is still equivocal as to how its absence results in muscle weakness.
Progressive muscle wasting (weakness)
dropping eyelids (ptosis)
Inability to walk
Assessment and Diagnosis
DNA blood test
Types of Muscular Dystrophies
Becker’s muscular dystrophy (BMD) , is a less severe variant of Duchenne dystrophy and is caused by production of a truncated but partially functional form of dystrophy.
Congenital muscular dystrophy (CMD) , Age at onset: Birth: symptoms include muscle weakness and possible joint deformities. Shorten lifespan
Duchene Muscular Dystrophy (DMD) , is the most common childhood form of muscular dystrophy. It usually begin when a child is started to walk. Patient require a wheelchair by age 10-12 and die in their late teens or early 20’s.
Distal Muscular Dystrophy , Age at onset: 40-60 yrs old. Symptoms include weakness and wasting of muscle on the hands forearms and lower legs. It is not life threatening.
Fasciocapulohumeral muscular dystrophy (FMD) , initially affect muscles of the face, shoulders and upper arm with weakness. Symptoms usually develop in the teenage years and some affected become severely disable.
Myotonic Muscular Dystrophy (MMD) , age at onset: 20-40yrs old. Is most common adult form of muscular dystrophy. It is mark by myotonia and as well as muscle wasting and weakness. It affects many body systems like eyes, heart, GIT and endocrine gland.
it focuses on supportive care and prevention of complications
an individualized therapeutic exercise is prescribed to prevent muscle tightness, contracture and disuse atrophy.
Night splint and stretching exercise are use to delay contracture of the joints, ankles, knees, and hips.
to prevent spinal deformity the patient is fitted with orthotic jacket to improve sitting stability.