ALS And ICE Bucket Challenge

Under supervise of: Dr. Hassan Darami

Faris Alosaimi “435031635” Salim Alhakami “435031615”

Yasser Aleliwi “435032849” Mohammed Almakdob “435031639”

Abdulrahman Badr Alwallan “435031645”

ALS And

ICE Bucket Challenge

What is ALS?

• Amyotrophic lateral sclerosis (ALS) "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord.• Motor neurons reach from the brain to the spinal cord and from the

spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.

Sign and Symptoms of ALS

• The initial clinical manifestation of ALS may occur in any body segment (bulbar, cervical, thoracic or lumbosacral) and may manifest as upper motor neuron or lower motor neuron symptoms or signs.

Upper motor neuron symptoms

• Loss of upper motor neurons (UMNs) results in slowness of movement, incoordination and stiffness with relatively little overt weakness. Arm or hand UMN symptoms include poor dexterity with resulting difficulty performing activities of daily living. Leg UMN symptoms manifest as a spastic gait with poor balance and may include spontaneous leg flexor spasms and ankle clonus.

Lower motor neuron symptoms

•Loss of LMNs results in weakness, usually accompanied by atrophy and fasciculations. Cramps are also common.

Limb signs and symptoms of ALS

Upper motor neuron signs

Spasticity

Slowed rapid alternating movements

Increased reflexes

Gait disorder

Lower motor neuron signs

Weakness

Gait disorder

Reduced reflexes

Muscle atrophy and fasciculations

Upper motor neuron symptoms

Stiffness, slowness and incoordination of movement

Spontaneous clonus

Spontaneous flexor spasms

Lower motor neuron symptoms

Weakness and atrophy

Fasciculations

Cramps

Bulbar signs and symptoms of ALSUpper motor neuron signs

Increased jaw reflexJaw spasticity

Facial diparesis (may be asymmetric)

Increased facial reflexesPalmomental sign

Poor palatal elevationSlow tongue movement

Lower motor neuron signsWeak masseter and or pterygoidsDifficulty maintaining jaw closure

Facial diparesis (may be asymmetric)

Poor palatal elevationTongue weakness

Muscle atrophy and fasciculations

Upper motor neuron symptomsJaw stiffness with difficulty opening the mouth

Spontaneous jaw clonusDysphagia

LaryngospasmPseudobulbar affectSialorrhea (drooling)

Difficulty managing pharyngeal secretionsLower motor neuron symptoms

Incomplete eye closureDifficulty opening and/or closing the jaw

Poor lip closure and sealDysarthria

Slurred, nasal and/or hoarse speechHoarseness

Axial signs and symptoms of ALS

Upper motor neuron signs

Absent abdominal reflexes

Lower motor neuron signs

Neck extension weakness

Truncal extension weakness; bent spine

Abdominal protuberance

Increased lumbar lordosis

Upper motor neuron symptomsStiffness and imbalance

Lower motor neuron symptomsNeck extensors

Difficulty holding up the headWhen severe produces head drop

Truncal extensorsDifficulty maintaining an erect posture

Lumbar extensorsIncreased lumbar lordosisAbdominal wall musclesAbdominal protuberance

Cramps

Respiratory signs and symptoms of ALS

Lower motor neuron signs

Tachypnea

Vocal and speech

Reduced vocal volume

Shortened sentences

Frequent breath pauses

Use of accessory respiratory muscles

Abdominal paradox

Lower motor neuron symptoms

Dyspnea and/or orthopnea

Low speech volume

Weak cough

Sleep disordered breathing

Frequent nocturnal awakenings, possibly with note of dyspnea

Excessive daytime sleepiness and/or fatigue

Morning headache

Confusion

Hallucinations

Probable Causes of ALSFree radicals

The inherited form of ALS often involves a mutation in a gene responsible for producing a strong antioxidant enzyme that protects your cells from damage caused by free radicals — the byproducts of oxygen metabolism

GlutamatePeople who have ALS typically have higher than normal levels of glutamate, a chemical messenger in the brain, in their spinal fluid. Too much glutamate is known to be toxic to some nerve cells

Protein mishandling Mishandled proteins within the nerve cells may lead to a gradual accumulation of abnormal forms of these proteins in the cells, eventually causing the nerve cells to die.

Probable Causes of ALS

Autoimmune responsesSometimes, a person's immune system begins attacking some of his or her body's own normal cells, and scientists have speculated that such antibodies may trigger the process that results in ALS. Thus ALS is not contagious.

Pathogenesis

current hypotheses include:SOD1 mutation

similarities between sporadic and familial ALS suggest relationship to SOD1mutation may cause toxic gain of function of SOD1 enzyme leading to

generation of free radicals, cell injury, and cell deathglutamate-induced excitotoxicity results in activation of calcium-

dependent enzyme pathways leading to increased neuronal destruction

TDP-43 (also called TARDBP) is major component of cytoplasmic protein aggregates (including ubiquitin) in patients with sporadic ALS

Pathogenesis

pathologic features of ALS on histological exam:degree of loss of both of neuronal systems including:

large motor neurons of anterior horn cells of spinal cord and motor nuclei of brainstem (motor nuclei of cranial nerves V, VII, IX, X [somatic], XII)

large pyramidal neurons of motor cortex and/or large myelinated axons of corticospinal tracts

cellular pathologic changes in involved areas:neuronal atrophy with relative increase in lipofuscin and loss of Nissl substanceevidence should be seen of different stages of process of neuronal degeneration

including normal-appearing neuronsevidence of degeneration of corticospinal tracts at same level

Pathogenesis

other histologic findings commonly found include:lack of pathologic change in motor neurons of cranial nerves III, IV, VI, the

intermediolateral column of spinal cord, or Onuf's nucleus in sacral region of cord.occurrence of ≥ 1 of the following cellular pathologic changes in large motor

neurons of anterior horn cells of spinal cord and motor nuclei of brainstem, and large pyramidal neurons of motor cortex and/or large myelinated axons of corticospinal tracts:

ubiquitinated intracytoplasmic inclusions in motor neurons (skeins, Lewy body-like structures)Bunina bodies (cystatin C-containing inclusion found in cell bodies of motor neurons in

patients withALS)aggregates of neurofilaments in perikarya of motor neurons (hyaline conglomerate inclusions)axonal spheroids with accumulation of masses of neurofilaments and Wallerian-like

degeneration in anterior roots

DiagnosisThere is no specific test that can diagnose the disease as known , but that affected the upper and lower motor neuron in one party is likely to strongly signs of disease. Therefore, the diagnosis depends primarily on the signs and symptoms observed by the physician to the patient and a series of tests to rule out other diseases.

Because the symptoms of this disease are similar to the symptoms of many other diseases

of these experiments is to draw electrical muscle, There is another famous test that measures the speed of nerve conduction valuable

Differential Diagnosis:•

Multifocal motor neuropathy with conduction block

Cervical spondylotic myelopathy with polyradiculopathy

Spinal stenosis with compression of lumbosacral nerve roots

Chronic inflammatory demyelinating polyneuropathy with

central nervous system lesions

Syringomyelia

Syringobulbia

Differential Diagnosis:Foramen magnum tumorMeningeal carcinomatosis Spinal muscular atrophy Polyglucosan body disease Bulbospinal muscular atrophy (Kennedy disease)Monomelic amyotrophy ALS-like syndromes have been reported in the setting of lead intoxication, HIV,

hyperparathyroidism, hyperthyroidism, lymphoma, and vitamin B 12 deficiency.

Management

Nonpharmacologic Therapy Noninvasive positive-pressure ventilation may increase tracheostomy-

free survival in patients with respiratory difficulty (defined by orthopnea or FVC 50% of predicted may improve quality of life).

Percutaneous endoscopic gastrostomy (PEG) tube placement improves nutritional intake, promotes weight stabilization, and eases medication ADMINISTRATION. Some studies suggest PEG placement may prolong life 1 to 4 mo, particularly when placed before FVC falls to ≤50% of predicted value.

Nutrition, speech therapy, physical and occupational therapy services.

Suction device for sialorrhea.

drugs to treat this disease:

The Food and Drug Administration (FDA) approved the first drug to treat the disease: Riluzole (Rilutik). It is believed that Rilozul limits of motor neuron damage by reducing the secretion of glutamate through activation of glutamate carriers. In addition, many other effects garrison nerve offers by closing sodium channels and calcium channel stoppers, inhibition of protein kinase C, and stimulate the receptors prone to substance NMDA. Clinical trials of the drug on patients Rilozul proved that prolongs survival for several months, and could have a greater benefit for the survival of patients with bulbar beginning. Property lengthen the time before a patient needs a respirator.

HISTORY OF ALS

Jean- Marie Charcot (1825-1893) noted the first research of the character of ALS in 1874, and name the fatal syndrome based on what he found. He was a noted French neurologist who called “the Father of Neurology”, and .explained nervous system works

Famous People with ALS Disease

Henry Louis "Lou Gehrig" was an American baseball

first baseman who played 17 seasons in Major League

Baseball (MLB) for the New York Yankees (1923–1939).

Stephen William Hawking is an English theoretical physicist,

cosmologist, author and Director of Research at the

Centre for Theoretical Cosmology within the

University of Cambridge.

Mao Zedong was a Chinese Communist

revolutionary and the founding father of the

People's Republic of China.

What is Ice Bucket Challenge ?

• The Ice Bucket Challenge for ALS/MND is a social media campaign that was initiated by Pete Frates, a former Boston College captain who is living with motor neurone disease (MND) in the US. Since Peter Frates posted his challenge online, the Ice Bucket Challenge quickly went viral and is now spreading across the world MND, sporting and entertainment communities.

The rules:Mandatory:1. Fill a bucket (or larger container) with water and ice2. Tip it over your head3. Challenge three other people to take the Ice Bucket Challenge within 48 hours4. If nominees don't take the Ice Bucket Challenge within 48 hours they make a donation to an MND charity.• Of course you can take the challenge AND make a donation and ask the people

you nominate to do the same! Optional:1. Add your own personal touch by creating a ice bucket tipper like Bill Gates.2. Post your video/photos on Facebook, Twitter, YouTube and Instagram. Use the hashtags #icebucketchallenge and #MND.

How to get involved?

• Take the Ice Bucket Challenge and challenge your friends and family to do the same.

Resources:

DynamedMayo clinicClinicalkeyUptodateEssentials of pathophysiology page (913+914)Pathophysiology clinical concepts of disease processes page (847) Professional guide to Pathophysiology page (297+298+299)http://www.disabled-world.com/artman/publish/famous-als.shtml