Archive | 6:51 AM

ALS Anatomy Paper: Unsuitable (for citations) Internet Database

14 Jun

Are you getting tired of reading about this?  Maybe you are, but it’s very helpful for me to do all the prep work on a blog.  It links up to the rest and I can use the stages to write the actual paper.  And I’m getting finished with the most difficult part:  Finding and formatting appropriate citations.  Trouble is–you can never have too many good sources of information in a paper.  A secondary concern is that good sources don’t always convey the basic information that I want to include in the paper.

Reading the “facts” on Wiki seems to much easier and complete, then wading through research jargon and trying to put together their results in some sort of comprehensive and conclusive statement.  When is research conclusive, anyway?  You always need more.  That’s the trouble.

At any rate, that’s why this ALS info keeps popping up on the blog.  Sorry if it’s disruptive to your entertainment needs.  Maybe a post about alcohol tomorrow. . .

I can’t really use these quotes or sources, but I CAN use the information to find legit sources on Google Scholar.


-ALS is also known as Lou Gehrig’s disease.

-In about 10% of cases, ALS is caused by a genetic defect. In the remaining cases, the cause is unknown.

-In ALS, nerve cells (neurons) waste away or die, and can no longer send messages to muscles. This eventually leads to muscle weakening, twitching, and an inability to move the arms, legs, and body. The condition slowly gets worse. When the muscles in the chest area stop working, it becomes hard or impossible to breathe on one’s own.

-ALS affects approximately 5 out of every 100,000 people worldwide.

-Symptoms usually do not develop until after age 50.

-Breathing or swallowing muscles may be the first muscles affected. As the disease gets worse, more muscle groups develop problems.

–>refer to long symptoms list

–>refer to diagnostic list

-There is no known cure for ALS.

-first drug treatment for the disease is a medicine called riluzoleRiluzole slows the disease progression and prolongs life.

–>refer to management of symptoms

-Death often occurs within 3 – 5 years of diagnosis. About 25% of patients survive for more than 5 years after diagnosis.

–>refer to DZ complications


-The condition is sometimes called Lou Gehrig‘s disease in North America, after the New York Yankees baseball player who was diagnosed with the disease in 1939.

-bladder and bowel sphincters and the muscles responsible for eye movement are usually, but not always, spared.

-Cognitive function is generally spared for most patients although some (~5%) also have frontotemporal dementia.[1] A higher proportion of patients (~30-50%) also have more subtle cognitive changes which may go unnoticed but are revealed by detailed neuropsychological testing. Sensory nerves and the autonomic nervous system, are generally unaffected meaning the majority of people with ALS will maintain sight, hearing, touch, smell, and taste.

-presenting symptoms include muscle fasciculation (twitching), cramping, or stiffness of affected muscles; muscle weakness affecting an arm or a leg; and/or slurred and nasal speech.

-About 75% of people contracting the disease experience “limb onset” ALS i.e. first symptoms in the arms or legs. Patients with the leg onset form may experience awkwardness when walking or running or notice that they are tripping or stumbling, often with a “dropped foot” which drags gently along the ground. Arm-onset patients may experience difficulty with tasks requiring manual dexterity such as buttoning a shirt, writing, or turning a key in a lock.

-About 25% of cases are “bulbar onset” ALS. These patients first notice difficulty speaking clearly or swallowing.

-A smaller proportion of patients experience “respiratory onset” ALS where theintercostal muscles that support breathing are affected first.

-Symptoms of upper motor neuron involvement include tight and stiff muscles (spasticity) and exaggerated reflexes (hyperreflexia) including an overactive gag reflex.

-An abnormal reflex commonly calledBabinski’s sign also indicates upper motor neuron damage.

-Symptoms of lower motor neuron degeneration include muscle weakness and atrophy, muscle cramps, and fleeting twitches of muscles that can be seen under the skin (fasciculations).

-Around 15–45% of patients experience pseudobulbar affect, also known as “emotional lability”, which consists of uncontrollable laughter, crying or smiling, attributable to degeneration of bulbar upper motor neurons resulting in exaggeration of motor expressions of emotion.

-To be diagnosed with ALS, patients must have signs and symptoms of both upper and lower motor neuron damage that cannot be attributed to other causes.

-rate of progression can be measured using an outcome measure called the “ALS Functional Rating Scale (Revised)”, a 12-item instrument administered as a clinical interview or patient-reported questionnaire that produces a score between 48 (normal function) and 0 (severe disability). Though there is a high degree of variability and a small percentage of patients have much slower disease, on average, patients lose about 1 FRS point per month.

-Most people with ALS die from respiratory failure, usually within three to five years from the onset of symptoms. The median survival time from onset to death is around 39 months, and only 4% survive longer than 10 years. [6] The best-known person with ALS, Stephen Hawking, has lived with the disease for more than 50 years, though his is an unusual case.

-Recently, a genetic abnormality known as a hexanucleotide repeat was found in a region called C9ORF72, which is associated with ALS combined with frontotemporal dementia ALS-FTD [9], and accounts for some 6% of cases of ALS among white Europeans. [10]

-A defect on chromosome 21 (coding for superoxide dismutase) is associated with approximately 20% of familial cases of ALS, or about 2% of ALS cases overall.[11][12][13] This mutation is believed to be autosomal dominant, and has over a hundred different forms of mutation. The most common ALS-causing SOD1 mutation in North American patients is A4V, characterized by an exceptionally rapid progression from onset to death.

-The defining feature of ALS is the death of both upper and lower motor neurons in the motor cortex of the brain, the brain stem, and the spinal cord. Prior to their destruction, motor neurons develop proteinaceous inclusions in their cell bodies and axons. This may be partly due to defects in protein degradation.[15] These inclusions often contain ubiquitin, and generally incorporate one of the ALS-associated proteins: SOD1TAR DNA binding protein (TDP-43, or TARDBP), or FUS.

-important step toward determining the cause came in 1993 when scientists discovered that mutations in the gene that produces the Cu/Zn superoxide dismutase (SOD1) enzyme were associated with some cases (approximately 20%) of familial ALS. This enzyme is a powerfulantioxidant that protects the body from damage caused by superoxide, a toxic free radical generated in the mitochondria.

-It is speculated that aggregate accumulation of mutant SOD1 plays a role in disrupting cellular functions by damaging mitochondriaproteasomes, protein folding chaperones, or other proteins.

-Scientists have found that, compared to healthy people, ALS patients have higher levels of glutamate in the serum and spinal fluid.[12] Riluzole is currently the only FDA approved drug for ALS and targets glutamate transporters. It only has a modest effect on survival, however, suggesting that excess glutamate is not the sole cause of the disease.

-diagnosis of ALS is primarily based on the symptoms and signs the physician observes in the patient and a series of tests to rule out other diseases.

-Certain EMG findings can support the diagnosis of ALS.

Riluzole (Rilutek) as of 2011 is the only treatment that has been found to improve survival but only to a modest extent.[23] It lengthens survival by several months, and may have a greater survival benefit for those with a bulbar onset. It also extends the time before a person needs ventilation support. Riluzole does not reverse the damage already done to motor neurons, and people taking it must be monitored for liver damage (occurring in ~10% of people taking the drug).[24] It is approved byFood and Drug Administration (FDA) and recommended by the National Institute for Clinical Excellence (NICE).

-supportive care:

–Medical professionals can prescribe medications to help reduce fatigue, ease muscle cramps, control spasticity, and reduce excess saliva and phlegm. Drugs also are available to help patients with pain, depression, sleep disturbances, dysphagia, and constipationBaclofen and diazepam are often prescribed to control the spasticity caused by ALS, and trihexyphenidyl or amitriptyline may be prescribed when ALS patients begin having trouble swallowing their saliva.

–physical and occupational therapists can set goals and promote benefits for individuals with ALS by delaying loss of strength, maintaining endurance, limiting pain, preventing complications, and promoting functional independence.[25]

–Gentle, low-impact aerobic exercise such as performing activities of daily living (ADL’s), walking, swimming, and stationary bicycling can strengthen unaffected muscles, improve cardiovascular health, and help patients fight fatigue and depression.

–Range of motion and stretching exercises can help prevent painful spasticity and shortening (contracture) of muscles. Physical and occupational therapists can recommend exercises that provide these benefits without overworking muscles.

–Physical and occupational therapists can recommend exercises that provide these benefits without overworking muscles. They can suggest devices such as ramps, braces, walkers, bathroom equipment (shower chairs, toilet risers, etc.) and wheelchairs that help patients remain mobile.

–Occupational therapists can provide or recommend equipment and adaptations to enable people to retain as much safety and independence in activities of daily living as possible.

–speech-language pathologists can recommend the use ofaugmentative and alternative communication such as voice amplifiers, speech-generating devices (or voice output communication devices) and/or low tech communication techniques such as alphabet boards or yes/no signals.

-ALS is one of the most common neuromuscular diseases worldwide, and people of all races and ethnic backgrounds are affected. One or two out of 100,000 people develop ALS each year.[30] ALS most commonly strikes people between 40 and 60 years of age, but younger and older people can also develop the disease. Men are affected slightly more often than women.

Amyotrophic comes from the Greek languageA- means “no”, myo refers to “muscle”, and trophic means “nourishment”; amyotrophic therefore means “no muscle nourishment,” which describes the characteristic atrophication of the sufferer’s disused muscle tissue. Lateral identifies the areas in a person’s spinal cord where portions of the nerve cells that are affected are located. As this area degenerates it leads to scarring or hardening (“sclerosis“) in the region.

–>refer to history

KNS-760704 (Dexpramipexole) is under clinical investigation in ALS patients. It is hoped that the drug will have a neuroprotective effect.

Talampanel is being tested in ALS

–>explore Wiki’s resources list