Amyotrophic Lateral Sclerosis (ALS)

ALS Coronal[1]

Amyotrophic lateral sclerosis (ALS) is one of the most common forms of motor neuron diseases. It is also known as “Lou Gehrig's disease”, after a well-known baseball player in New York.

Amyotrophic Lateral Sclerosis arises due to this process: degenerative.

Presentation

The hallmark of the disease is a mixed upper and lower motor neuropathy that is progressive over time. The upper motor signs include spasticity, hyperreflexia and weakness. The lower motor signs include amyotrophy, weakness and fasciculations. The diagnosis is suspected when there is insidious loss of function in more than one parts of the body. The lower motor neuron signs tend to appear first usually in the tongue and limbs. 80% of patients present with predominately limb symptoms with the rest presenting with bulbar symptoms.

The limb disease may present with altered gate such a foot drag while upper limb involvement usually begins with loss of dexterity and wasting of muscles over time. Eventually the function deteriorates and mobility reduces with spasticity and subsequent contractures.

Patients who present with bulbar symptoms usually present with speech abnormalities and dysphagia. Most patient will tend to preserve ocular movements and bladder control [9].

psychiatrical
Emotional Lability
  • Emotional lability can occur in all ALS sufferers, even those without dementia.[healthline.com]
  • Symptoms vary in severity and may include muscle weakness and atrophy, fasciculations, emotional lability, and respiratory muscle weakness.[msdmanuals.com]
  • Emotional lability can cause fluctuations in mood and emotional response.[medicalnewstoday.com]
  • EMOTIONAL LABILITY Emotional lability or pseudobulbar affect due to loss of normal inhibition of laughter and crying, complex acts that are thought to depend on neural pathways involved in emotion, respiration, vocalization and facial movements, may also[scielo.br]
  • 'Pseudobulbar' symptoms such as emotional lability and excessive yawning are seen in a significant number of cases.[ojrd.biomedcentral.com]
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  • musculoskeletal
    Muscle Cramp
    • ALS is characterized by progressive dysfunction resulting in symptoms such as tripping, clumsiness, difficulty talking, slurred speech, muscle cramps, twitching and ultimately, paralysis.[lifeextension.com]
    • Mexiletine might reduce painful muscle cramps.[alstdi.org]
    • Other early symptoms vary but can include tripping, dropping things, abnormal fatigue of the arms and/or legs, slurred speech, muscle cramps and twitches, and/or uncontrollable periods of laughing or crying.[alsa.org]
    • Some with ALS experience painful muscle cramps, which can sometimes be alleviated with medication.[mda.org]
    • Medicines can control symptoms, such as muscle cramping and difficulty swallowing, and other drugs can slow the development of the disease.[kidshealth.org]
    Muscular Atrophy
    • A disease of the motor tracts of the lateral columns and anterior horns of the spinal cord, causing progressive muscular atrophy, increased reflexes, fibrillary twitching, and spastic irritability of muscles.[dictionary.reference.com]
    • Amyotrophic Lateral Sclerosis (ALS), Progressive Muscular Atrophy (PMA), Progressive Bulbar Palsy (PBP) and Primary Lateral Sclerosis (PLS) are all subtypes of motor neurone disease.[alsmndalliance.org]
    • One form of hereditary canine spinal muscular atrophy is similar to this disease.[medical-dictionary.thefreedictionary.com]
    • Finally, patients characterized as having clinically suspected ALS, due to absence of upper motor neuron findings, also named PMA (progressive muscular atrophy), have clinical courses that are usually indistinguishable from those of patients with ALS.[emedicine.medscape.com]
    • Progressive Muscular Atrophy (PMA) A progressive neurological disease in which the lower motor neurons deteriorate.[my.clevelandclinic.org]
    Muscle Twitch
    • These persistent muscle twitches are generally not painful, but can be annoying or interfere with sleep.[mda.org]
    • Symptoms of ALS include progressive muscle weakness beginning in the limbs, muscle twitching and cramping, slowed speech becoming progressively harder to understand, difficulty in breathing and swallowing; persistent fatigue, weight loss resulting from[brainfoundation.org.au]
    • Clinical Signs, Symptoms, and Diagnostics Symptoms and signs associated with these pathological changes include: Muscle fasciculation , more commonly known as muscle twitches Difficulty walking, moving your arms, speaking, and swallowing And, eventually[study.com]
    • ALS often begins with muscle twitching and weakness in a limb, or slurred speech.[mayoclinic.org]
    • Muscle twitches and cramps are common; they occur because degenerating axons (long fibers extending from nerve-cell bodies) become “irritable.”[mda.org]
    Muscle Spasticity
    • ALS symptoms The first symptoms usually include weakness or tight and stiff muscles (spasticity) in a particular area, said Dr.[livescience.com]
    • Some of the early symptoms include: fasciculations (muscle twitches) in the arm, leg, shoulder, or tongue muscle cramps tight and stiff muscles (spasticity) muscle weakness affecting an arm, a leg, neck or diaphragm. slurred and nasal speech difficulty[ninds.nih.gov]
    • Some of the early symptoms include: fasciculations (muscle twitches) in the arm, leg, shoulder, or tongue muscle cramps tight and stiff muscles ( spasticity ) muscle weakness affecting an arm, a leg, neck or diaphragm. slurred and nasal speech difficulty[medicinenet.com]
    • Symptoms of upper motor neuron involvement include tight and stiff muscles ( spasticity ) and exaggerated reflexes ( hyperreflexia ) including an overactive gag reflex.[en.wikipedia.org]
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  • gastrointestinal
    Choking
    • Because choking is common as ALS progresses, patients may need a tube called a percutaneous endoscopic gastrostomy (PEG) tube or feeding tube to be placed into the stomach for feeding.[ucsfhealth.org]
    • To avoid choking or inhaling food and saliva into the lungs, a feeding tube might need to be placed into the stomach.[chealth.canoe.com]
    • People may begin using suction devices to remove excess fluids or saliva and prevent choking.[ninds.nih.gov]
    Dysphagia
    • Symptoms include progressive weakness, atrophy, fasciculation, dysphagia, and eventual paralysis of respiratory function.[patientslikeme.com]
    • Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solids or liquids.[orpha.net]
    • For the most part, ALS patients are cared for at home and are hospitalized only for diagnosis, when severe dysphagia demands an esophagostomy or gastrostomy for feeding, or when medical treatment is necessary for acute respiratory problems.[medical-dictionary.thefreedictionary.com]
    • Drooling, dehydration, malnutrition with weight loss and aspiration are all associated with dysphagia.[scielo.br]
    • Rarely, patients may present with dysphagia for solid or liquids before noticing speech disturbances.[ojrd.biomedcentral.com]
    Gagging
    • Symptoms of upper motor neuron involvement include tight and stiff muscles ( spasticity ) and exaggerated reflexes ( hyperreflexia ) including an overactive gag reflex.[en.wikipedia.org]
    • The gag reflex is preserved and is often brisk while the soft palate may be weak.[ojrd.biomedcentral.com]
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  • respiratoric
    Dyspnea
    • As the disease progresses the patient has difficulty swallowing and talking, with dyspnea as the accessory muscles of respiration are affected.[medical-dictionary.thefreedictionary.com]
    • Individuals may develop problems with moving, swallowing (dysphagia), speaking or forming words (dysarthria), and breathing (dyspnea).[ninds.nih.gov]
    • Symptoms usually begin with nocturnal dyspnea and orthopnea, and signs of poor nocturnal oxygenation, such as morning headache, frequent waking, nightmares and daytime sleepiness.[aafp.org]
    Hoarseness
    • Damage to the medulla can cause: slurred speech hoarseness difficulty swallowing emotional lability, which is characterized by excessive emotional reactions such as laughing or crying a loss of tongue muscle contour, or tongue atrophy excess saliva difficulty[healthline.com]
    • A person with bulbar weakness may become hoarse or tired after speaking at length, or speech may become slurred.[encyclopedia.com]
    • Speech problems, such as slurring, hoarseness or decreased volume, are the most common presentations in the bulbar form of ALS.[aafp.org]
    • […] onset include the following: Reduced finger dexterity, cramping, stiffness, and weakness or wasting of intrinsic hand muscles Wrist drop interfering with work performance With bulbar onset (20-25%), initial complaints are as follows: Slurred speech, hoarseness[emedicine.medscape.com]
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  • neurologic
    Slurred Speech
    • ALS often begins with muscle twitching and weakness in a limb, or slurred speech.[mayoclinic.org]
    • ALS is characterized by progressive dysfunction resulting in symptoms such as tripping, clumsiness, difficulty talking, slurred speech, muscle cramps, twitching and ultimately, paralysis.[lifeextension.com]
    • Other early symptoms vary but can include tripping, dropping things, abnormal fatigue of the arms and/or legs, slurred speech, muscle cramps and twitches, and/or uncontrollable periods of laughing or crying.[alsa.org]
    • Damage to the medulla can cause: slurred speech hoarseness difficulty swallowing emotional lability, which is characterized by excessive emotional reactions such as laughing or crying a loss of tongue muscle contour, or tongue atrophy excess saliva difficulty[healthline.com]
    • Sometimes the initial problem can be one of slurred speech or trouble swallowing.[cedars-sinai.edu]
    Dysarthria
    • Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solids or liquids.[orpha.net]
    • DYSARTHRIA Dysarthria may occur early in the disease, as a presenting feature, and later become severe in the most of patients.[scielo.br]
    • Individuals may develop problems with moving, swallowing (dysphagia), speaking or forming words (dysarthria), and breathing (dyspnea).[ninds.nih.gov]
    Hyperreflexia
    • The UMN findings of hyperreflexia and spasticity result from degeneration of the lateral corticospinal tracts in the spinal cord, which are gliotic and hardened to palpation at autopsy, hence the term "lateral sclerosis."[uptodate.com]
    • Muscle pain may be caused by clonus or hyperreflexia.[aafp.org]
    • Clinical Loss of fine motor skills, triad of atrophic weakness of hands and forearms; leg spasticity; generalised hyperreflexia.[medical-dictionary.thefreedictionary.com]
    • Symptoms of upper motor neuron involvement include tight and stiff muscles ( spasticity ) and exaggerated reflexes ( hyperreflexia ) including an overactive gag reflex.[en.wikipedia.org]
    Abnormal Reflex
    • Signs of the former include muscle tightness or stiffness and abnormal reflexes; signs of the latter include muscle weakness, cramps, twitches and atrophy. [ Related: Nervous System: Facts, Functions & Diseases ] Eventually, individuals with ALS lose[livescience.com]
    • Involvement of the upper motor neurons causes spasms and increased tone in the limbs, and abnormal reflexes.[encyclopedia.com]
    • An abnormal reflex commonly called Babinski's sign also indicates upper motor neuron damage.[en.wikipedia.org]
    Ataxia
    • Gluten-associated ataxia had already been linked to the presence of serum transglutaminase 6 antibodies; these had been reported to be present in 62% of patients with gluten ataxia.[brainblogger.com]
    • The most common manifestations are ataxia, vertigo (dizziness) and neuropathy, followed by epilepsy (seizures) , ALS and multiple sclerosis-like symptoms.[glutenfreesociety.org]
    • MDA addresses the muscular dystrophies, spinal muscular atrophy, ALS, Charcot-Marie-Tooth disease, myasthenia gravis, Friedreich's ataxia, metabolic diseases of muscle, and inflammatory diseases of muscle, for a total of more than 40 neuromuscular diseases[patients.aan.com]
    • Examples: HIV, syphilis, myelitis, poliomyelitis, Lyme disease Endocrine disorders Examples: hyperthyroidism, hyperparathyroidism, diabetic radiculopathy Toxins Examples: lead, mercury Other Examples: postpolio syndrome, Huntington's disease, Friedreich's ataxia[aafp.org]
    Foot Drop
    • This usually begins on one side of the body and can cause loss of hand dexterity, shoulder function, a foot-drop or walking difficulty.[alsbc.ca]
    • After several months of progressive weakness, she developed a right foot drop.[aafp.org]
    • drop; mild sensory neuropathy on NCS; positive DNA test for CAG repeat mutation in exon 1 of androgen receptor gene Diagnostic methods Electrophysiological studies Patients in whom a diagnosis of ALS is suspected on clinical grounds should have electrophysiological[ojrd.biomedcentral.com]
    • Initial complaints in patients with lower limb onset are often as follows: Tripping, stumbling, or awkwardness when running Foot drop; patients may report a "slapping" gait Initial complaints with upper limb onset include the following: Reduced finger[emedicine.medscape.com]
    Slow Speech
    • Symptoms of ALS include progressive muscle weakness beginning in the limbs, muscle twitching and cramping, slowed speech becoming progressively harder to understand, difficulty in breathing and swallowing; persistent fatigue, weight loss resulting from[brainfoundation.org.au]
    Long Tract Signs
    • MRI/CT; no EMG evidence of widespread chronic partial denervation (CPD) in limbs Skull base lesions Lower cranial nerve signs (bulbar symptoms and signs; wasting of tongue, often asymmetrical); seldom significant long tract signs unless foramen magnum[ojrd.biomedcentral.com]
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  • Entire body system
    Weakness
    Fatigue
    • By LISA FOGARTY Photo Credit Patient Voices: Hepatitis Fatigue, liver disease and the stigma of a contagious disease: six men and women speak about living with hepatitis.[nytimes.com]
    • We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition.[patientslikeme.com]
    • Other early symptoms vary but can include tripping, dropping things, abnormal fatigue of the arms and/or legs, slurred speech, muscle cramps and twitches, and/or uncontrollable periods of laughing or crying.[alsa.org]
    • General fatigue may develop Muscles in the arms, shoulders and tongue may cramp or twitch.[ucsfhealth.org]
    • Symptoms of ALS include progressive muscle weakness beginning in the limbs, muscle twitching and cramping, slowed speech becoming progressively harder to understand, difficulty in breathing and swallowing; persistent fatigue, weight loss resulting from[brainfoundation.org.au]
    Weight Loss
    • Symptoms of ALS include progressive muscle weakness beginning in the limbs, muscle twitching and cramping, slowed speech becoming progressively harder to understand, difficulty in breathing and swallowing; persistent fatigue, weight loss resulting from[brainfoundation.org.au]
    • Muscle decline and weight loss can be slowed with nutritional supplements called branched-chain amino acids (BCAAs).[webmd.boots.com]
    • This can lead to weight loss from muscle wasting.[healthline.com]
    • A nutritionist may also prescribe a certain diet to help prevent weight loss.[healthadministration.uc.edu]
    Epilepsy
    • Bilateral occipital calcification associated with celiac disease, folate deficiency, and epilepsy.[glutenfreesociety.org]
    • Gluten sensitivity induces a inflammatory reaction in the small intestine mucosa, but it can also cause neurologic manifestations, such as ataxia (impaired coordination, balance and speech), neuropathy, dizziness, epilepsy, and cortical calcifications[brainblogger.com]
    • […] following medical societies: American Academy of Neurology , American Academy of Sleep Medicine , American Association of Neuromuscular and Electrodiagnostic Medicine , American Clinical Neurophysiology Society , American College of Physicians , American Epilepsy[emedicine.medscape.com]
    Nocturnal Leg Cramp
    • FDA bans quinine for nocturnal leg cramps.[aafp.org]
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  • Jaw & Teeth
    Drooling
    • ALS progression, lending support to anecdotal reports by some patients that cannabinoids may be efficacious in moderating the disease’s development and in alleviating certain ALS-related symptoms such as pain, appetite loss, spasticity, depression and drooling[norml.org]
    • […] hands Impaired speech Difficulty swallowing As the ALS progresses, symptoms may include: A weakening of other limbs, perhaps accompanied by twitching, muscle cramping, and exaggerated, faster reflexes Problems with chewing, swallowing, and breathing; drooling[webmd.boots.com]
    • Some PALS experience sialorrhea , drooling.[caregiver.org]
    • There are medicines that can help with many of the symptoms you might have, such as muscle problems (stiffness, cramps , twitching), drooling and extra saliva , depression and mood swings, and pain.[webmd.com]
    • Drooling may be one of the most distressing symptoms for patients with bulbar ALS.[aafp.org]
    Tongue Atrophy
    • Damage to the medulla can cause: slurred speech hoarseness difficulty swallowing emotional lability, which is characterized by excessive emotional reactions such as laughing or crying a loss of tongue muscle contour, or tongue atrophy excess saliva difficulty[healthline.com]
    • It represents around 5% of all MND cases; (3) Progressive bulbar palsy (PBP), affecting the muscles of the bulbar region, is characterized by dysarthria, dysphagia, tongue atrophy, and fasciculation.[scielo.br]
    Fasciculation of the Tongue
    • Within a month, the patient had slurred speech, difficulty in swallowing liquids and fasciculations of the tongue.[aafp.org]
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  • Workup

    Due to it slow progression it may take a neurologist a few months to come to a diagnosis, unless there is a strong family history of the illness. Needle electromyography and nerve conduction studies and will aid in diagnosis and exclude any other conditions that may mimic the disease. Genetic testing is only performed if there is a suspicion that there may be a genetic or familial cause. If there is uncertainty a muscle biopsy may have to be done to exclude other courses.

    Pathology

    Other Pathologies
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  • Cytology
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  • Biopsy
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  • Laboratory

    Cerebrospinal Fluid
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  • Serum
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  • Imaging

    X-ray
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  • Test Results

    Other Test Results
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  • Treatment

    The treatment for this condition is totally supportive and includes, speech, physical and occupational therapy. It is very important that the patient and relatives are educated well on the condition and prognosis. There are also a number of support groups that help families and suffers deal with the condition. The only drug available currently is riluzole that has been shown to delay the time to tracheostomy by about 2 months [10].

    Prognosis

    As mentioned before, amyotrophic lateral sclerosis is a fatal disease with the median time to death from diagnosis being 3 years. The patients who survive long tend to get the disease at a younger age, with primary limb involvement. Most individuals succumb to secondary infections such a pneumonia [8].

    Complications

    Aspiration Pneumonia
    • Morbidity usually occurs from aspiration pneumonia and other medical complications related to mobility.[healthadministration.uc.edu]
    • Aspiration pneumonia and medical complications of immobility contribute to morbidity in patients with the disease.[emedicine.medscape.com]
    • In later stages of the disorder, aspiration pneumonia can develop, and maintaining a healthy weight can become a significant problem that may require the insertion of a feeding tube.[en.wikipedia.org]
    • Respiratory failure and pulmonary complications of bulbar paralysis (i.e. aspiration pneumonia) are the most common causes of death in ALS.[scielo.br]
    Inspiration
    • Join us for an inspirational night of dinner, dancing and raffles in support of premier ALS research and patient care.[lesturnerals.org]
    • This family friendly and inspiring event draws people of all ages and athletic abilities coming together to honor a loved one with the disease, to remember those who’ve passed and to show their support for the cause.[alsa-stl.org]
    • Another concept the Challenge benefited from was its ripple effect, inspiring features for articles, such as The Guardian ' s "10 More of the Best Celebrity Takes on the Ice Bucket Challenge." [49] Despite its marketing success, critics suggested that[en.m.wikipedia.org]
    • The personal experiences with ALS (Lou Gehrig's disease) inspired the founders to create a community of patients, doctors, and organizations that inspires, informs, and empowers individuals.[scielo.br]
    Acute Respiratory Failure
    • PubMed Google Scholar Chen R, Grand'Maison F, Strong MJ, Ramsay DA, Bolton CF: Motor neuron disease presenting as acute respiratory failure: a clinical and pathological study.[ojrd.biomedcentral.com]
    Respiratory Acidosis
    • Abnormalities of arterial or venous (ear lobe) blood gases, such as respiratory acidosis are a late but important finding that signifies the need for respiratory support.[ojrd.biomedcentral.com]
    Dementia
    • Dementia Some people with ALS experience problems with memory and making decisions, and some are eventually diagnosed with a form of dementia called frontotemporal dementia.[mayoclinic.org]
    • ALS-related dementia is most likely to occur when there’s a family history of dementia.[healthline.com]
    • (ALS) and frontotemporal dementia (FTD).[medicalxpress.com]
    • Rarely ALS presents with breathing difficulty or a specific form of dementia (Front o-temporal dementia).[alsbc.ca]
    • However memory loss, a hallmark of Alzheimer's-type dementia, is generally not a feature of most cognitive changes in ALS.[mda.org]
    Nocturnal Leg Cramp
    • FDA bans quinine for nocturnal leg cramps.[aafp.org]
    Alzheimer Disease
    • For residents of the greater San Francisco Bay Area, FCA provides direct family support services for caregivers of those with Alzheimer's disease, stroke, ALS, head injury, Parkinson's, and other debilitating brain disorders that strike adults.[caregiver.org]
    • Epidemiology Incidence 0.5–1.5/105, more common in men, usually age 50; occurs randomly throughout the world with local clustering on the Kii Peninsula, Japan, and Guam, where it is associated with dementia, parkinsonism, and Alzheimer’s disease.[medical-dictionary.thefreedictionary.com]
    • Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies.[emedicine.medscape.com]
    • The judge in the case concurred, and the NFL then agreed to pay an unlimited amount of damages for players found to have ALS, Parkinson's disease , Alzheimer's disease and dementia. [43] Other factors [ edit ] Where no family history of the disease is[en.wikipedia.org]
    Parkinson's Disease
    • The severity of Parkinson's Disease symptoms changes faster than researchers thought, so clinical trials should be designed differently.[patientslikeme.com]
    • ALS is a Neurodegeneration having shared characteristics with Alzheimer's and Parkinson's diseases.[alsbc.ca]
    • The illness can cause symptoms similar to other diseases that affect nerves and muscles, including Parkinson's disease and stroke.[kidshealth.org]
    • This form combines symptoms of both ALS and Parkinson's disease .[encyclopedia.com]
    Amyotrophic Lateral Sclerosis
    • Phase Phase Phase Oral Nutritional Supplementation in Amyotrophic Lateral Sclerosis (ALS) Patients Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease with a median age at time of diagnosis of 65 years.[centerwatch.com]
    • Nearby words for amyotrophic lateral sclerosis Difficulty index for amyotrophic lateral sclerosis Few English speakers likely know this word Word Value for amyotrophic Scrabble Words With Friends[dictionary.reference.com]
    Progressive Bulbar Palsy
    • Amyotrophic Lateral Sclerosis (ALS), Progressive Muscular Atrophy (PMA), Progressive Bulbar Palsy (PBP) and Primary Lateral Sclerosis (PLS) are all subtypes of motor neurone disease.[alsmndalliance.org]
    • Patients with progressive bulbar palsy (PBP) may be classified, while the disease is restricted to the bulbar region, as having “suspected ALS” if only UMN or LMN abnormalities are evident, and as “possible ALS” if there is UMN and LMN involvement.[emedicine.medscape.com]
    • Some others include: primary lateral sclerosis (PLS) progressive bulbar palsy (PBP) pseudobulbar palsy What Happens When You Have ALS With ALS, motor neurons in your brain and spinal cord break down and die.[webmd.com]
    • Progressive Bulbar Palsy (PBP) A condition that starts with difficulties speaking, chewing and swallowing due to lower motor nerve cell (neuron) deterioration.[my.clevelandclinic.org]
    Paraparesis
    • Asymmetrical onset; combined UMN and LMN signs in arm(s); spastic paraparesis; occasionally fasciculations in arms.[ojrd.biomedcentral.com]
    Pseudobulbar Palsy
    • Some others include: primary lateral sclerosis (PLS) progressive bulbar palsy (PBP) pseudobulbar palsy What Happens When You Have ALS With ALS, motor neurons in your brain and spinal cord break down and die.[webmd.com]
    • […] neurological disorders that selectively affect motor neurons , the cells that control voluntary muscles of the body, including amyotrophic lateral sclerosis (ALS), primary lateral sclerosis , progressive muscular atrophy , progressive bulbar palsy , pseudobulbar[en.wikipedia.org]
    • In patients with bulbar dysfunction, dysarthria may arise from either LMN pathology or pseudobulbar palsy from UMN disorder, leading to slow slurred speech or a nasal quality.[ojrd.biomedcentral.com]
    Paraplegia
    • Alsin 2q33.2 Select ALS 3 ALS3 Unknown 18q21 Select ALS 4 SETX Senataxin 9q34.13 Select ALS 5 SPG11 spastic paraplegia 11 (autosomal recessive) 15q14 Select ALS 6 FUS fusion (involved in t(12;16) in malignant liposarcoma) 16p11.2 Select ALS 7 ALS7 Unknown[alsod.iop.kcl.ac.uk]
    • PubMed Google Scholar Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA: A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).[ojrd.biomedcentral.com]
    • Clinical presentations of ALS and their prognoses, as the form distal in limbs and bulbar, are well known, however, knowledge of specific forms such as brachial paraplegia or "flail arm syndrome", monomelic atrophy of Hirayama, progressive muscular atrophy[scielo.br]
    Motor Neuron Disease
    • SOURCES: NHS Choices: Motor neurone disease Hawkingorg.uk Motor Neurone Disease Association.[webmd.boots.com]
    • Motor neuron diseases have various forms, such as the following: Motor neuron diseases are more common among men and usually develop in people who are in their 50s.[merckmanuals.com]
    • It belongs to a group of disorders known as motor neuron diseases, and results in the gradual loss of voluntary muscle control leading to paralysis.[brainfoundation.org.au]
    • "Motor neurone disease" redirects here.[en.wikipedia.org]
    • (NEALS) is to rapidly translate scientific advances into clinical research and new treatments for people with Amyotrophic Lateral Sclerosis (ALS) and motor neuron disease.[alsconsortium.org]
    Epilepsy
    • Bilateral occipital calcification associated with celiac disease, folate deficiency, and epilepsy.[glutenfreesociety.org]
    • Gluten sensitivity induces a inflammatory reaction in the small intestine mucosa, but it can also cause neurologic manifestations, such as ataxia (impaired coordination, balance and speech), neuropathy, dizziness, epilepsy, and cortical calcifications[brainblogger.com]
    • […] following medical societies: American Academy of Neurology , American Academy of Sleep Medicine , American Association of Neuromuscular and Electrodiagnostic Medicine , American Clinical Neurophysiology Society , American College of Physicians , American Epilepsy[emedicine.medscape.com]
    Respiratory Muscle Weakness
    • Symptoms vary in severity and may include muscle weakness and atrophy, fasciculations, emotional lability, and respiratory muscle weakness.[msdmanuals.com]
    • The presenting symptoms of respiratory muscle weakness include dyspnoea on exertion or talking, orthopneoa, disturbed sleep, excessive daytime somnolence, morning headaches, fatigue, anorexia, depression, poor concentration, vivid nightmares and nocturia[ojrd.biomedcentral.com]
    • Hypoventilation produces nocturnal hypoxia (NH), which is becoming increasingly recognized as a predictor of survival, independent of respiratory muscle weakness.[scielo.br]

    Etiology

    The underlying etiology is unknown. Most cases are sporadic with approximately 10% of the cases being familial or genetic. The genes in familial causes are numerous and no single gene has been identified that can explain the pathology. Many of the genes identified have been associated with other neurological diseases such as dementia and Alzheimer disease. In the families which have identified genes the mode of transmission is usually autosomal dominant. There is no clinical difference between the familial variant compared to the sporadic cases.

    The only establish risk factor that has been identified is smoking. Studies have shown that smokers are at twice the risk of suffering from this disease as compared to non-smokers [2] [3].

    Epidemiology

    The annual incidence is approximately 2 per 100,000 population. Finland has the highest incidence in the world with rates almost twice that of other countries. It tends to affect whites more than other races and is higher in men as compared to women.
    Amyotrophic lateral sclerosis may occur between teenager years to as high as the 80s. There is increasing risk with age [4] [5] [6].

    Sex distribution
    Age distribution

    Pathophysiology

    The pathophysiology of amyotrophic lateral sclerosis is unknown, but a number of theories exist. The disease is named after the pathology is causes - amyotrophy - muscular atrophy, and lateral sclerosis refers to the changes seen in the lateral tracts.

    It is thought that there are multiple mechanisms involved, few which have been noted include derangements in free radical scavenging, and derangements in cellular cytoskeletons. The most upcoming theory that has a lot of research focused on it is the theory that aggregation in mRNA processing may be a significant contributor, leading to neuronal dysfunction and death [7].

    Prevention

    The only risk factor identified is smoking so cessation or avoidance would assume to be beneficial. Suspected family cases should have testing and counselling when appropriate.

    Summary

    Amyotrophic lateral sclerosis (ALS) is overall a fatal disease with no active treatments. With good support, suffers may lead meaningful, but restricted lives. It is one of many motor neuron diseases, but what makes it stand out is that it presents with both upper and lower motor neuron signs [1].

    Patient Information

    • Definition: Amyotrophic lateral sclerosis (ALS) is a disease that affects the nerves that control muscle movement. This causes the muscles to weaken and become shrunken. This makes it difficult for the person to do daily activates and eventually they may be unable to walk, talk or eat as the disease progresses. 
    • Cause: The cause of this disease is unknown, but there are some families that are known to pass it down generations. In these families a few genes have been affected. Most of the cases have no family links. There has been some information that smoking may contribute to its onset.
    • Symptoms: The will be weakness of the affected region of the body, with either rigid limbs or floppy limbs. Speech and swallowing may be the first to be affected in some individuals. 
    • Diagnosis: Most of the diagnosis is made by history and examination, with few tests being done to see if the nerves are functioning well.
    • Treatment: Treatment is very limited with only one drug available called riluzole that slows down the disease, briefly. Most of the other treatment is supportive to help the patient not to get stiffness in the joints and bedsores. They may require speech therapy and devices to aid in movement such as wheel chairs. As speech is also affected communication devices may be required to aid. They may also require breathing support and feeding tubes. 
    • Overall the disease has a poor outcome and family support is very important. There are groups that aid the families psychologically, helping them understand and process all the information.

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    References

    1. Mitsumoto H, Chad DA, Pioro EP. Amyotrophic lateral sclerosis. In: Contemporary Neurology Series, 49, F.A. Davis Company, Philadelphia 1998.
    2. l-Chalabi A, Lewis CM. Modelling the effects of penetrance and family size on rates of sporadic and familial disease. Hum Hered. 2011;71(4):281-8. 
    3. Hanby MF, Scott KM, Scotton W, Wijesekera L, Mole T, Ellis CE, et al. The risk to relatives of patients with sporadic amyotrophic lateral sclerosis. Brain. Dec 2011;134:3454-7. 
    4. Chiò A, Mora G, Calvo A, Mazzini L, Bottacchi E, Mutani R. Epidemiology of ALS in Italy: a 10-year prospective population-based study. Neurology. Feb 24 2009;72(8):725-31. 
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