degenerative disease dementia the term dementia is used to describe the deterioration of a patients...

Degenerative Disease

Dementia

The Term Dementia Is Used to Describe the Deterioration of a Patients Mental Facilities. This Is Usually Associated With Degeneration of the Cerebral Cortical Centers Responsible for Behavior and Reason. It Is Diagnosed by the Criteria Established in a Mental Status Exam. The Terms Senile and Pre-senile Refer to Age of Onset, but by Themselves Are of Little Use

Dementia

Idiopathic Varieties, Such As Alzheimers, Along With Multi-infarct Dementia (Due to Cerebral Arteriosclerotic Disease) Constitute the Largest Group by Far (Approximately 80%). Dementia May However, Be Caused by Any Form of Brain Lesion, Including Trauma, Infection, Toxic/metabolic Disease, Tumors, Infarcts, and Hemorrhages.

Alzheimer’s Disease

Characterized by Diffuse, Progressive Degeneration of the Cerebral Cortex, and Less Commonly the Basal Ganglia.Pathologic Changes Are Known As Tangles (Neurofibrillary) and Plaques (Argyrophilic).It Accounts for the Majority of Dementia Before Age 60.The Etiology Is Unclear, Although Cholinergic Failure, and Increased Brain Levels of Aluminum Have Been Implicated.

Disease Alzheimer’s Type

Alzheimer’s Disease Diagnostic Features– Both Sexes (1/2 Million in U.S.)– 35-60 Yrs. Age Group Onset of Early S&S– Usually Not Hereditary– Behavior, Memory, Judgment Changes– Dysphasia, Dyscalcia Common– Parkinsonian Features Common (Late)– Management Should Be Begun After Diagnosis Is Confirmed,

Remembering That These Same Symptoms May Be Present With Other, More Treatable Disease. Be Sure to Inquire About Medications the Patient May Be Taking. The Disease Will Lead to Total Disability, and Finally Death. Treatment Is Only Palliative.

Disease Alzheimer’s Type PET

Picks Disease

Cortex Atrophy Is Selective to Frontal and Temporal Lobes, but Quite Extensive. It Is Clinically Not Distinguishable From Alzheimer’s Disease Above.

Paralysis Agitans (Parkinsons Syndrome)

Definition - Parkinson's disease (PD) is characterized by an insidious onset with slowing of emotional and voluntary movement, muscular rigidity, postural abnormality and tremor. Parkinson's disease was first described in 1817 by James Parkinson in a paper entitled "An Essay on the Shaking Palsy".It is a common neurological disorder with a prevalence of 1-2 per 1000 overall. However the incidence rises after the age of 50 such that about 20-30% by age 80.The disease is due to the striatal deficiency of dopamine following neuronal degeneration within the substantia nigra.


DiagnosisThe diagnosis of Parkinson's disease is generally a clinical one, however modern imaging techniques may have a role in the future in differentiating different Parkinsonian syndromes or in the pre-clinical diagnosis of Parkinson's disease. For example, by using fluoro-dopa PET imaging, one can clearly see in the Parkinsonian patient the markedly impaired fluoro-dopa uptake in the region of the caudate and putamen.


Usually Beginning in the Fifth and Sixth Decades, Parkinsonian S&S May Follow Any Type of Brain Damage, Including Encephalitis, Arteriosclerosis, CO or Manganese Poisoning, Trauma, CVA, Etc. If the Cause Is Not Known (Parkinsons Disease), It Is Believed to Be Due to Degeneration of the Striate Bodies and the Substantia Nigra (Basal Ganglia), Thus Causing Abnormally Low Concentrations of Dopamine.

Paralysis Agitans (Parkinsons Syndrome) PET

Paralysis Agitans

Clinical Features– Insidious Onset– Slow Progression– Stooped Posture– Arms at Sides, Elbows Flexed,

Fingers– Adducted– Rigidity– Resting Tremor (2-6 Cps)– Masked Facies– Bradykinesis– Festination Gait– Monotone– Intellect Usually Not Affected

– Advise Against Surgical Destruction of Various Nuclei.

– Active Exercise, and Aggressive Chiropractic Therapy Should Be Encouraged.

– Emotional Stress Seems to Cause Disease Exacerbation, and Should Therefore Be Avoided.

– Medical Therapy Is Usually Only Temporarily Effective Using Various Drugs, Including Levodopa. Joint DC/MD Management of These Cases Is Therefore, Ideal.

Parkinson Treatment

Clearly, the successful treatment of Parkinson's disease involves much more than just the use of drugs. It is vital that management is considered as part of a multidisciplinary approach with the involvement of chiropractic, nursing, occupational and physiotherapy, speech therapy, dieticians etc. Indeed, with recent advances in neurosurgery, on occasion, a number of surgical procedures need to be considered as one of the treatment options. Nonetheless, with these issues considered, for many patients, drugs play a very important part of their management, and it is for this reason I include some brief notes on some of the common drugs.

Parkinson Treatment - Drugs

Anticholinergics Example: Benzhexol– These drugs have a mild antiparkinsonian effect and are said to be more

effective for tremor. These drugs should always be stopped slowly to avoid a rebound worsening of Parkinsonian symptoms.

– Potential side effects:• Neuropsychiatric - visual hallucinations, poor concentration/memory, organic

confusional state. Patients with dementia or the elderly are particularly prone to developing these sorts of problems with anticholinergics.

• Blurred near vision due to mydriasis. Therefore these drugs are contraindicated in narrow-angle glaucoma.

• Dry mouth • Acute urinary retention in males with prostatic enlargement • Constipation • Dyskinesia


AmantadineThis is a mild antiparkinsonian drug . The dose should be reduced with renal impairment.Side effects:– livedo reticularis – ankle oedema – confusion


Selegiline (Deprenyl)Selegiline is a selective inhibitor of monoamine oxidase type B which metabolises dopamine.There was considerable interest in the use of Selegiline as a neuroprotective agent given the results of the DATATOP study (NEJM 1989;321:1364-1371). However, there has been considerable controversy over the interpretation of the results of this and other studies in that was Selegiline truly neuroprotective or does it have some kind of symptomatic effect. Most neurologists now tend to favour the latter.

Secondly, there has been some suggestion that the use of Selegiline is associated with increased mortality (BMJ 1995;311:1602-1607). This has been shown in one study, however, the causes of death are unknown at present. Nonetheless it would seem to lay to rest the neuroprotective argument for Selegiline. Since we do not have data from any other studies or details on the causes of death in the Selegiline group in the BMJ paper, at present we do not know whether the reported increased mortality in the BMJ paper is causally linked with Selegiline or not.


LevodopaExample: Sinemet, MadoparSince dopamine does not cross the blood brain barrier, but its precursor Levodopa does, L-Dopa is given in an effort to replace the striatal dopamine deficiency. However, since L-dopa has significant peripheral metabolism, resulting in untoward side effects (nausea and vomiting) and decreased brain delivery of L-dopa, it is combined with a peripheral decarboxylase inhibitor.Side effects:

– nausea or vomiting – postural hypotension – worsening of peptic ulcer symptoms – sweating – discoloration of urine/sweat – with long-term use: – Motor fluctuations and dyskinesias. These probably represent the biggest single

problem in the long-term management of a patient with Parkinson's disease. It is estimated that at least 50% of patients with Parkinson's develop these complications within the first 5 years of treatment. As such, for reasons of brevity the reader is referred to the references below as a starting point.

– Neuropsychiatric problems. Confusion, hallucinations, psychosis.


Dopamine agonistsExamples: Bromocriptine; Pergolide; Lisuride.These 3 drugs vary both in their duration of action and the degree to which they are D1 or D2 agonists. Thus:Lisuride - short duration of action, mainly a D2 agonistPergolide- longest duration of action, acts on both D1 and D2 receptors.There is evidence that patients who can tolerate monotherapy with a dopamine agonist for a prolonged time that the incidence of dyskinesias and motor fluctuations in the long term is reduced. The downside of this is that the dose needs to be gradually increased very slowly and side effects are more common than L-dopa.These act directly on the dopamine D1 and D2 receptors. Since they also act in the periphery on the dopamine receptors of the vomiting centre, they can also cause nausea and vomiting.Side effects:

– nausea or vomiting – postural hypotension – neuropsychiatric side effects (as for L-dopa but occur more frequently) – vasospasm – ankle swelling – retroperitoneal fibrosis (rare)


ApomorphineApomorphine is also a D1 and D2 agonist, but since it is given parentally via subcutaneous injection, its use is generally witheld until problems with motor fluctuations and 'on-off' fluctuations occur which are not being easily controlled via other drugs. As a result of this, initiation of therapy is best instituted in the context of a specialist Parkinson's clinic.Side effects:

– nausea or vomiting.-on account of this, the patient needs to be given Domperidone as an anti-emetic prior to the use of Apomorphine.

– postural hypotension – sweating – yawning – drowsiness – local skin reactions at injection site – motor fluctuations and dyskinesias – confusion and hallucinations


COMT inhibitorsExamples: Tolcapone, EntacaponeThese are relatively new drugs and Tolcapone is no longer licensed in the UK due to some deaths due to liver failure. They are COMT inhibitors (catechol-O-methyltransferase inhibitors) and as such slow down break down of L-dopa either in the periphery alone (Entacapone) or centrally as well (Tolcapone). Results from studies suggest that they have a role in reducing on-off fluctuations and dyskinesias. Trial have shown alterations in liver function tests (LFTs), the exact mechanism for this is unknown, but for the first 6 months, LFTs need to be checked. Some patients develop diarrhoea but this is reversible. The main problems with COMT inhibitors are worsening of peak-dose dyskinesias, but it is relatively easy to treat this by reducing the amount of L-dopa.

Progressive Supranuclear Palsy

Clinically Similar to Parkinson’s Disease, This Basal Ganglia Disease Is Characterized by Early Paresis of Vertical, Then Horizontal Eye Movements. It Is Treated As Parkinson’s.

Neuronal Degeneration in Children

Idiopathic Neuronal Degeneration in Children, Usually Begins Within the First Year. Children Demonstrate a Loss of Previously Attained Developmental Levels. Spasticity, Visual Loss, Seizures and Involuntary Movements Are Typical. Children Usually Succumb Within Five Years.

Idiopathic Orthostatic Hypotension

Also Known As Shy-drager Syndrome, It May Be Associated With Other CNS Degenerative Changes.

Chronic Progressive Chorea (Huntington’s)

Cortical and Basal Ganglia Degeneration of Hereditary Origin. It Is Characterized by the Adult Onset of Choreiform Movements and Dementia. Chronic and Progressive, It Leads to Death in About 15 Years.

Hepatolenticular Degeneration (Wilson’s Disease)

Hepatolenticular Degeneration Is a Disease Which Involves Cirrhosis of the Liver in Addition to Degeneration of the Basal Ganglia. It Is Characterized by the Pigmented Ring of Cornea, Near the Sclera (Kayser-fleischer Ring), and the Early Adult Onset.

Spinocerebellar Degenerations

Friederick’s Ataxia– Usually Has Its Onset in the Adolescent or Young

Adult Age Groups. It Is the Most Common Spinocerebellar Disease, and Is Hereditary in Origin. It Is Characterized by Progressive Ataxia, As Well As Other Cerebellar, Posterior Column and Corticospinal Signs.

Marie’s Ataxia– Olivopontocerebellar Degeneration

Demyelinating Diseases – Multiple Sclerosis

Usually Has Its Onset Between 20 and 40 Years of AgeDue to Demyelinated Plaques of Glial Scar Tissue.Characterized by Periods of Exacerbation and Remission, but It Need Not Be. In Either Case Progression Is the Rule, and Remissions Become Less Complete.The Patient Usually Dies Within 30 Years of the Onset of SymptomsThe Cause of Multiple Sclerosis Is Still Uncertain, but Certainly Not Due to Any Lack of Hypotheses. The Incidence Is Greater in the Northern Latitudes of North America and Europe.


How is Multiple Sclerosis Diagnosed? Multiple sclerosis (MS) may be difficult to diagnose at first because symptoms can be mild and may suggest a number of conditions including stroke, emotional disorders, chronic fatigue syndrome, AIDS, Lyme disease, etc. A careful process that demonstrates findings that are consistent with MS and that also rules out other causes must be made to diagnose multiple sclerosis (MS). While Magnetic resonance imaging is a very powerful tool in the diagnosis of MS, there is not a single laboratory test, symptom, or physical finding which, when present or positive, always means a person has MS.


Axial T2 weighted MR image on left, bright CSF obscures the MS plaque in this brain. Fluid-suppressed "Turbo FLAIR" MR image, the bright MS plaques are now apparent. Images courtesy of Siemens Medical Systems


The basic guideline for diagnosing MS relies on two criteria: There must have been two attacks at least one month apart. An attack, also known as an exacerbation, flare, or relapse, is a sudden appearance of or worsening of an MS symptom or symptoms which lasts at least 24 hours. There must be more than one area of damage to central nervous system myelin—the sheath that surrounds and protects nerve fibers. The damage to myelin must have occurred at more than one point in time and not have been caused by any other disease that can cause demyelination or similar neurologic symptoms.


Several tests are used to help diagnose multiple sclerosis: Magnetic resonance imaging (MR or MRI) Clinical examination and tests of function Additional tests: evoked potential, CSF, and blood It is not usually necessary to do all diagnostic tests for every patient. If, however, a clear-cut diagnosis cannot be made based on the tests above, additional tests of evoked nerve potentials, cerebrospinal fluid (CSF), and blood may be ordered.Other symptoms of multiple sclerosis will be evaluated during the clinical examination conducted by a physician. This covers an extensive review of mental, emotional, and language functions, movement and coordination, vision, balance, and cranial nerves. Sex, birthplace, family history, and age of the person when symptoms first began are also taken into consideration.


Evoked potential tests are electrical diagnostic studies that can show if there is a slowing of messages in the various parts of the brain. They often provide evidence of scarring along nerve pathways that is not apparent on a neurologic exam. Cerebrospinal fluid (CSF), usually taken by a spinal tap, is tested for levels of certain immune system proteins and for the presence of oligoclonal bands. These bands indicate an abnormal autoimmune response within the central nervous system, meaning the body is producing an immune response against itself. Oligoclonal bands are found in the spinal fluid of about 90-95% of people with MS, but since they are present in other diseases as well, they cannot be relied on as positive proof of MS. They may also take some years to develop.


Blood tests: There is no definitive blood test for multiple sclerosis; however, blood tests can rule out other causes for various neurologic symptoms. Some other conditions that cause symptoms similar to those of MS are Lyme disease, a group of diseases known as collagen-vascular diseases, certain rare hereditary disorders, and AIDS.

Demyelinating Diseases – Multiple Sclerosis - Case

Case #342: MRI Brain and C-spine, 12/20/93: Multiple sclerosis.CC: Numbness.Hx: This 23y/o HF initially presented to a local physician in 5/93 with complaints of diffuse pain, fatigue and numbness of her RUE and RLE. She underwent two lumbar punctures and two MRI scans, the results of which are not known. She stated she had "lymphocytes" in her CSF and was treated with an IV steroid; followed by an oral steroid. Her symptoms spontaneously resolved in late 7/93. One month prior to this presentation, she experienced recurrent fatigue and a "heavy" felling in BUE and BLE. One week ago she experienced "spasms" of BUE and a 2 day episode of horizontal binocular diplopia. During the past week she has noticed increased fatigue, and heaviness of her limbs. Her symptoms worsen following hot showers.


She underwent a lumbar puncture on 12/17/93 and CSF analysis yielded: Protein 42(normal 15-45mg.dl), Glucose 48, RBC 0, WBC 15(13 lymphocytes, 2 histiocytes), IgG 2.6mg/dl(normal), IgG index 0.5(normal), No oligoclonal bands were found. CBC and Lyme titers were normal. Urinalysis revealed 1-2 WBC and leukoesterase positivity. She was given a 3 day course of Bactrim and returned 12/20/93 for MRI scan and possibly steroid treatment.MEDS: Bactrim.PMH: unremarkable.FHX: unremarkable.SHX: raised in Illinois. Currently a student. Denies tobacco/OH/illicit drug use.


EXAM: BP116/54 HR76 RR18 Afebrile.MS: unremarkable. Normal speech without dysarthria.CN: No RAPD or INO. VFFTC, Pupils 4/4 decreasing to 2/2 on light exposure. The rest of the CN exam was unremarkable.Motor: Full strength throughout with exception of 5- strength in distal LUE.Sensory: Decreased PP and LT from a T8 level on the right side.Coord: Poor HKS in BLE. Slowed RAM and FNF in the RUE.Station: unsteady with and without eyes open on Romberg testing.Gait: mildly spastic and had difficulty with TW.Reflexes: 3/3+biceps,triceps, brachioradialis. 3+/3+ quadriceps and 4/4 archilles with sustained ankle clonus, bilaterally. Plantar responses were equivocal, bilaterally.Gen Exam: unremarkable.


COURSE: MRI Brain and C-spine on 12/20/93 revealed increased signal on T2 weighted images in the lower medulla and postrior aspect of the spinal cord at the C1 level.


She was treated with a 3 day course of IV Solumedrol; followed by a Prednisone taper. Her symptoms gradually improved in the 2 weeks following treatment. She went on to have a relapsing-remitting course with admissions in 12/94, 3/95, 6/95, 7/95, and 12/95. She was offered Avonex( Beta Interferon 1A) but did not initiate treatment right away due to financial reasons. During her 12/95 hospitalization she had marked right hemiparesis and spaticity. She had been taking Baclofen for the later for several months prior to 12/95. She is currently disabled.

Multiple Sclerosis

Characteristic HistoryVisual DisturbancesParesthesiasParesisTremorAtaxiaTreatment Is to Be Aimed at the Maintenance of Long-term Periods of Remission. Reduction of Chemical, Mental and Physical Stressors Upon the Patient May Aid in This.

Demyelinating Diseases – Multiple Sclerosis – Case 2

Case #340: MRI Brain, 6/21/94 &12/9/94: Multiple Sclerosis(MS).

UIHC:9417331-0

DOB: 6/20/1967

IN:SH

DOE: 12/7/94

CC: Dysarthria.


Hx: This 27y/o HF with a h/o of MS presented on 12/7/94 with a one month history of progressive generalized numbness (strange feeling; not sensory loss), difficulty with gait, dysarthria, left facial weakness, lethargy and dysphagia. She denied any recent viral illness. However, on the day of admission she began feeling nauseated, but denied fever, chills or vomiting.


Her history of demyelinating disease dates back to 3/94 when she had an episode of nausea, vomiting, lethargy, dysarthria and generalized weakness. She diagnosed with gastroenteritis by her local physician. However, her weakness remained unexplained. On 6/18/94 she was admitted to a local hospital for 2 days of nausea, vomiting, difficulty with gait and facial numbness. Workup at that time included a normal GS, CBC, ANA, RPR, NH3, HIV titer, Lyme titer, and TFT's. 2 separate CT scans of the brain with and without contrast revealed nonspecific perventricular white matter changes. The patient left the hospital AMA and went to another hospital. At the second hospital, a lumbar puncture was unsuccessfully performed and she was transferred to UIHC on 6/20/94. While at UIHC she complained of nausea, vomiting, slurred speech, lethargy, genelarized body numbness and weakness, blurred vision and diplopia.


6/21/94 MRI brain scan revealed multiple foci of increased signal in the periventricular white matter on T2 weighted images suggestive of demylination.


Lumbar puncture, 6/21/94, revealed CSF: Protein 49(normal,45), Glucose 71, WBC 8(7lymphocytes, 1 Histiocyte), RBC 2, Albumin 21.7(normal 14-20), IgG 12.0(normal<6.2), IgG index 1.5(normal<0.7), Oligoclonal bands were present. She then received a 5 day course of IV Solu-Medrol followed by a Prednisone taper. Her difficulties with vision resolved one month after treatment.


She did well, except for an occasional mild headache, until one month ago--as described above.MEDS: Propranolol 60mgqd for headaches, Naprosyn, Zantac.PMH: as above; and including "migraine" headaches.FHx: noncontributory.SHx: Single, lives with boyfriend, no children, denies OH or illicit drug use, and admit to smoking 1/4 packs of cigarettes per day.


EXAM: BP132/73 HR79 RR16 36.2MS: A&O to person, place and time. Mild dysarthria. Slightly depressed mood with flattened affect.CN: Pupils 3/3 decreasing to 2/2 on exposure to light. No RAPD noted. There was left upper and lower facial weakness with no sensory loss to PP testing. Shoulder shrug was slightly decreased on the left. No Lhermittes sign was induced.Motor: 5/4 throughout BUE. 5/5- throughout BLE.Sensory: unremarkable.Coord: slowed RAM, FNF and HNS movements on the left.Station: No pronator drift, truncal ataxia, or Romberg sign.Gait: mildly hemiparetic on left.Reflexes: 3/3 throughout BUE. 2/2 throughout BLE. Plantar responses were withdrawn on the right and extensor on the left.Gen Exam: unremarkable.COURSE: Urinalysis, CBC, GS were unremarkable. She was given a 5 day course of Solu-Medrol 250mg IV q6hours followed by a Prednisone taper. She was placed on Paxil for depression. MRI Brain, 12/9/94, revealed new and old areas of increased signal on T2 weighted images in the periventricular white matter regions and right pons. She was discharged home and had reported no further episodes up to 5/97.

Diffuse Sclerosis

Diffuse Sclerosis Is a Catch-all Name for a Group of Disorders Characterized by a Widespread Loss of Myelin in the Cerebral Hemispheres. Many Rare Varieties Exist. Most Are Probably Genetically Determined Metabolic Disturbances.

• Leukodystrophy

• Lipidoses

Amyotrophic Lateral Sclerosis

ALS is a disease of the motor neurons, those nerve cells reaching from the brain to the spinal cord (upper motor neurons) and the spinal cord to the peripheral nerves (lower motor neurons) that control muscle movement. In ALS, for unknown reasons, these neurons die, leading to a progressive loss of the ability to move virtually any of the muscles in the body. ALS affects "voluntary" muscles, those controlled by conscious thought, such as the arm, leg, and trunk muscles. ALS, in and of itself, does not affect sensation, thought processes, the heart muscle, or the "smooth" muscle of the digestive system, bladder, and other internal organs. Most people with ALS retain function of their eye muscles as well. However, various forms of ALS may be associated with a loss of intellectual function (dementia) or sensory symptoms.


"Amyotrophic" refers to the loss of muscle bulk, a cardinal sign of ALS. "Lateral" indicates one of the regions of the spinal cord affected, and "sclerosis" describes the hardened tissue that develops in place of healthy nerves. ALS affects approximately 30,000 people in the United States, with about 5,000 new cases each year. It usually begins between the ages of 40 and 70, although younger onset is possible. Men are slightly more likely to develop ALS than women.ALS progresses rapidly in most cases. It is fatal within three years for 50% of all people affected, and within five years for 80%. Ten percent of people with ALS live beyond eight years.


The symptoms of ALS are caused by the death of motor neurons in the spinal cord and brain. Normally, these neurons convey electrical messages from the brain to the muscles to stimulate movement in the arms, legs, trunk, neck, and head. As motor neurons die, the muscles they enervate cannot be moved as effectively, and weakness results. In addition, lack of stimulation leads to muscle wasting, or loss of bulk. Involvement of the upper motor neurons causes spasms and increased tone in the limbs, and abnormal reflexes. Involvement of the lower motor neurons causes muscle wasting and twitching (fasciculations).


Although many causes of motor neuron degeneration have been suggested for ALS, none has yet been proven responsible. Results of recent research have implicated toxic molecular fragments known as free radicals. Some evidence suggests that a cascade of events leads to excess free radical production inside motor neurons, leading to their death. Why free radicals should be produced in excess amounts is unclear, as is whether this excess is the cause or the effect of other degenerative processes. Additional agents within this toxic cascade may include excessive levels of a neurotransmitter known as glutamate, which may over-stimulate motor neurons, thereby increasing free-radical production, and a faulty detoxification enzyme known as SOD-1, for superoxide dismutase type 1. The actual pathway of destruction is not known, however, nor is the trigger for the rapid degeneration that marks ALS. Further research may show that other pathways are involved, perhaps ones even more important than this one. Autoimmune factors or premature aging may play some role, as could viral agents or environmental toxins.


Two major forms of ALS are known: familial and sporadic. Familial ALS accounts for about 10% of all ALS cases. As the name suggests, familial ALS is believed to be caused by the inheritance of one or more faulty genes. About 15% of families with this type of ALS have mutations in the gene for SOD-1. SOD-1 gene defects are dominant, meaning only one gene copy is needed to develop the disease. Therefore, a parent with the faulty gene has a 50% chance of passing the gene along to a child.Sporadic ALS has no known cause. While many environmental toxins have been suggested as causes, to date no research has confirmed any of the candidates investigated, including aluminum and mercury and lead from dental fillings. As research progresses, it is likely that many cases of sporadic ALS will be shown to have a genetic basis as well.A third type, called Western Pacific ALS, occurs in Guam and other Pacific islands. This form combines symptoms of both ALS and Parkinson's disease.


SymptomsThe earliest sign of ALS is most often weakness in the arms or legs, usually more pronounced on one side than the other at first. Loss of function is usually more rapid in the legs among people with familial ALS and in the arms among those with sporadic ALS. Leg weakness may first become apparent by an increased frequency of stumbling on uneven pavement, or an unexplained difficulty climbing stairs. Arm weakness may lead to difficulty grasping and holding a cup, for instance, or loss of dexterity in the fingers.


Less often, the earliest sign of ALS is weakness in the bulbar muscles, those muscles in the mouth and throat that control chewing, swallowing, and speaking. A person with bulbar weakness may become hoarse or tired after speaking at length, or speech may become slurred.In addition to weakness, the other cardinal signs of ALS are muscle wasting and persistent twitching (fasciculation). These are usually seen after weakness becomes obvious. Fasciculation is quite common in people without the disease, and is virtually never the first sign of ALS.


While initial weakness may be limited to one region, ALS almost always progresses rapidly to involve virtually all the voluntary muscle groups in the body. Later symptoms include loss of the ability to walk, to use the arms and hands, to speak clearly or at all, to swallow, and to hold the head up. Weakness of the respiratory muscles makes breathing and coughing difficult, and poor swallowing control increases the likelihood of inhaling food or saliva (aspiration). Aspiration increases the likelihood of lung infection, which is often the cause of death. With a ventilator and scrupulous bronchial hygiene, a person with ALS may live much longer than the average, although weakness and wasting will continue to erode any remaining functional abilities. Most people with ALS continue to retain function of the extraocular muscles that move their eyes, allowing some communication to take place with simple blinks or through use of a computer-assisted device.


The diagnosis of ALS begins with a complete medical history and physical exam, plus a neurological examination to determine the distribution and extent of weakness. An electrical test of muscle function, called an electromyogram, or EMG, is an important part of the diagnostic process. Various other tests, including blood and urine tests, x rays, and CT scans, may be done to rule out other possible causes of the symptoms, such as tumors of the skull base or high cervical spinal cord, thyroid disease, spinal arthritis, lead poisoning, or severe vitamin deficiency. ALS is rarely misdiagnosed following a careful review of all these factors.

ALS Treatment

There is no cure for ALS, and no treatment that can significantly alter its course. There are many things which can be done, however, to help maintain quality of life and to retain functional ability even in the face of progressive weakness.As of early 1998, only one drug had been approved for treatment of ALS. Riluzole (Rilutek) appears to provide on average a three-month increase in life expectancy when taken regularly early in the disease, and shows a significant slowing of the loss of muscle strength. Riluzole acts by decreasing glutamate release from nerve terminals. Experimental trials of nerve growth factor have not demonstrated any benefit. No other drug or vitamin currently available has been shown to have any effect on the course of ALS.

ALS Treatment

Chiropractic care as well as physical therapy works with an affected person and family to implement exercise and stretching programs to maintain strength and range of motion, and to promote general health. Swimming may be a good choice for people with ALS, as it provides a low-impact workout to most muscle groups. One result of chronic inactivity is contracture, or muscle shortening. Contractures limit a person's range of motion, and are often painful. Regular stretching can prevent contracture. Several drugs are available to reduce cramping, a common complaint in ALS. Additionally, spinal manipulation may help relieve local congestion and improve segmental function through normalization of sensory input. An occupational therapist can help design solutions to movement and coordination problems, and provide advice on adaptive devices and home modifications.Speech and swallowing difficulties can be minimized or delayed through training provided by a speech-language pathologist. This specialist can also provide advice on communication aids, including computer-assisted devices and simpler word boards.

ALS Treatment

Nutritional advice can be provided by a nutritionist. A person with ALS often needs softer foods to prevent jaw exhaustion or choking. Later in the disease, nutrition may be provided by a gastrostomy tube inserted into the stomach.Mechanical ventilation may be used when breathing becomes too difficult. Modern mechanical ventilators are small and portable, allowing a person with ALS to maintain the maximum level of function and mobility. Ventilation may be administered through a mouth or nose piece, or through a tracheostomy tube. This tube is inserted through a small hole made in the windpipe. In addition to providing direct access to the airway, the tube also decreases the risk aspiration. While many people with rapidly progressing ALS choose not to use ventilators for lengthy periods, they are increasingly being used to prolong life for a short time.

ALS Treatment

The progressive nature of ALS means that most persons will eventually require full-time nursing care. This care is often provided by a spouse or other family member. While the skills involved are not difficult to learn, the physical and emotional burden of care can be overwhelming. Caregivers need to recognize and provide for their own needs as well as those of people with ALS, to prevent depression, burnout, and bitterness.Throughout the disease, a support group can provide important psychological aid to affected persons and their caregivers as they come to terms with the losses ALS inflicts. Support groups are sponsored by both the ALS Society and the Muscular Dystrophy Association.

Alternative treatment

Given the grave prognosis and absence of traditional medical treatments, it is not surprising that a large number of alternative treatments have been tried for ALS. Two studies published in 1988 suggested that amino-acid therapies may provide some improvement for some people with ALS. While individual reports claim benefits for megavitamin therapy, herbal medicine, and removal of dental fillings, for instance, no evidence suggests that these offer any more than a brief psychological boost, often followed by a more severe letdown when it becomes apparent the disease has continued unabated. However, once the causes of ALS are better understood, alternative therapies may be more intensively studied. For example, if damage by free radicals turns out to be the root of most of the symptoms, antioxidant vitamins and supplements may be used more routinely to slow the progression of ALS. Or, if environmental toxins are implicated, alternative therapies with the goal of detoxifying the body may be of some use.

Prognosis

ALS usually progresses rapidly, and leads to death from respiratory infection within three to five years in most cases. The slowest disease progression is seen in those who are young and have their first symptoms in the limbs. About 10% of people with ALS live longer than eight years.

PreventionThere is no known way to prevent ALS or to alter its course.


Known Also As Lou Gerig’s Disease, Mixture of Upper and Lower Motor Neuron Degeneration. It Is a Rare Disease and Always Spares Sensory Function. Etiology of ALS Is UnknownSlight Male Predominance. Average Age of Onset Is 66 Years.


Four Types Are Described:– Progressive Muscular Atrophy– Progressive Bulbar Palsy– Primary Lateral Sclerosis– Combined

Neuroectodermal Degenerations (Phakomatoses)

Of the Neuroectodermal Degenerations, Neurofibromatosis (Von Recklinghausen’s Disease), Is Occasionally Seen. It Usually Consists of Multiple Inherited Overgrowths of Nerves (Neurofibromata) and Skin (Fibroma). These Patients Also Have an Increased Incidence of CNS Tumors. Two Clinical Forms Are Common:

• Peripheral• Central

degenerative disease dementia the term dementia is used to describe the deterioration of a patients...

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