Amyotrophic lateral sclerosis 1

The standard in genetic testing is to test someone in the family who has the diagnosis of familial amyotrophic lateral sclerosis (ALS) first. However, if no one with ALS is available, testing an individual without ALS may also be appropriate. In general, children should not be tested until they are at least 18 years of age. Genetic testing for familial ALS is an individual decision and not all family members may wish to be tested. Genetic counseling is recommended for all family members to discuss the benefits and limitations of testing.

The ALS Association has pages where you can read the stories of other patients with amyotrophic lateral sclerosis (ALS) and connect with other patients. You can also become a part of the ALS registry:
http://www.alsa.org/about-als/aam-2014/stories/

There are many genes that can cause familial forms of amyotrophic lateral sclerosis (ALS) and new genes continued to be discovered. The first discovery was in 1993, when scientists discovered that mutations in the SOD1 gene can cause familial ALS. That was followed by the discovery of the TARDBP gene in 2008 and the C9orf72 gene in 2011. SOD1 and C9orf72 are the genes that are known to cause 40-50% of autosomal dominant familial ALS. In 2016, mutations in the TBK1 gene was found to be associated with ALS.

Dr. Jean-Martin Charcot first discovered amyotrophic lateral sclerosis as a unique condition in 1869.

People can develop symptoms of amyotrophic lateral sclerosis (ALS) from adolescence through adulthood, depending on the type of ALS that they have. Juvenile-onset ALS is a term that is given to individuals with ALS who are diagnosed before age 25 and generally have a family history. People with familial, or inherited, ALS often have signs and symptoms at an earlier age than people with sporadic ALS. The mean age of onset is 56 years in individuals with no known family history (sporadic ALS) and 46 years in individuals with more than one affected family member (familial ALS or FALS).

Because amyotrophic lateral sclerosis (ALS) affects many different body systems, individuals with ALS will typically have a multi-disciplinary care team including a neurologist, pulmonologist, psychologist, social worker and nursing team. Speech, occupational, and physical therapy are also typical for palliative care. Individuals with familial ALS may also have a genetics team caring for them and their family.

An estimated 90% of amyotrophic lateral sclerosis (ALS) cases occur sporadically. People with sporadic ALS have no family history of the disorder. Environmental exposures may be possible contributors to sporadic ALS.

An estimated 10% of all amyotrophic lateral sclerosis (ALS) cases are familial or inherited.

Amyotrophic lateral sclerosis is typically abbreviated as ALS.

People typically live 2-5 years after the first signs of amyotrophic lateral sclerosis (ALS). About 10% of people survive at least ten years. Most people with ALS die due to respiratory failure.

Limb-onset amyotrophic lateral sclerosis (ALS) is when initial signs and symptoms are weakness in the hands/feet or loss of balance. Most people experience limb-onset ALS. Bulbar-onset ALS is when initial signs and symptoms are slurring words/having trouble talking clearly. 25% of people with amyotrophic lateral sclerosis have bulbar-onset ALS. The first area of symptoms does not appear to correlate with a specific cause of ALS.

About 5% of individuals with amyotrophic lateral sclerosis (ALS), regardless of family history, also have have frontotemporal dementia (FTD). Features of FTD include cognitive deficits in attention, abstraction, planning, and problem solving. Individuals with variants in the C9orf72 and CHCHD10 genes have been reported with ALS/FTD.

Amyotrophic lateral sclerosis (ALS) is a disease of the nerves and muscles. This disease specifically affects the motor neurons, which are nerves that go from the brain to the spinal cord and from the spinal cord to the muscles in the body. These motor neurons are responsible for controlling voluntary movement, which is movement that you normally initiate. The motor neurons eventually degrade and die and stop sending/receiving messages to the muscle. The affected muscles gradually weakens and wastes away (atrophy) because they cannot function without nerve signals. People with ALS eventually lose the ability to eat, talk, move and even breathe. This condition is progressive, meaning that it will continue to get worse over time.

Most people with amyotrophic lateral sclerosis (ALS) initially notice weakness in their hands and legs, slurred or unclear speech, trouble swallowing or chewing and muscle problems (twitching, cramping, stiffness or weakness). Late symptoms of amyotrophic lateral sclerosis (ALS) include generalized muscle weakness and atrophy (muscle wasting), increasing problems with moving, swallowing, and speaking, exaggerated reflexes (hyperreflexia), and an overactive gag reflex. People with ALS eventually lose the ability to stand/walk, get in/out of bed on their own, and use their hands/arms. A small percentage of people may have trouble with memory or decision making. About 5% of individuals with ALS, regardless of family history, have frontotemporal dementia (FTD). The average duration of disease is three years, but it can vary significantly. Most people with ALS die because the muscles that control their breathing are compromised. It is important to see specialists when you have ALS.

Changes in several genes have been reported to cause familial amyotrophic lateral sclerosis (ALS). Some forms of ALS are autosomal dominant, in which only one of the two copies of the gene need to have a disease-causing change. Others are autosomal recessive and both copies of the gene must have a disease-causing change.

These genes have been reported to cause autosomal dominant familial ALS:
SOD1
SETX
FUS/TLS
VAPB
ANG
TARDBP
FIG4
C9orf72
CHCHD10
VCP
TBK1

These genes have been reported to cause autosomal recessive familial ALS:
ALS2
OPTN
SPG20

Variants in the UBQLN2 gene have been reported to call X-linked dominant familial ALS. In these cases, both men and women are affected but the gene can not be passed from male to male.

A variant is a change in the DNA when compared to a standard reference. A variant may or may not cause a higher risk for disease depending on the type of variant, the location and how it might change a protein.

Life with amyotrophic lateral sclerosis (ALS) can be difficult. Breathing machines, feeding tubes and medications are all ways to increase independence and increase the lifespan of patients with Amyotrophic Lateral Sclerosis. Additionally, physical, occupational and speech therapy and the support of social workers and mental health professionals are valuable parts of a care plan.

Most people with amyotrophic lateral sclerosis (ALS) initially notice weakness in their hands and legs, slurred or unclear speech, trouble swallowing or chewing and muscle problems (twitching, cramping, stiffness or weakness). Late symptoms of amyotrophic lateral sclerosis (ALS) include generalized muscle weakness and atrophy (muscle wasting), increasing problems with moving, swallowing, and speaking, exaggerated reflexes (hyperreflexia), and an overactive gag reflex. People with ALS eventually lose the ability to stand/walk, get in/out of bed on their own, and use their hands/arms. A small percentage of people may have trouble with memory or decision making. About 5% of individuals with ALS, regardless of family history, have frontotemporal dementia (FTD). The average duration of disease is three years, but it can vary significantly. Most people with ALS die because the muscles that control their breathing are compromised.

There is currently no cure for amyotrophic lateral sclerosis (ALS) and treatment is targeted at relieving symptoms of the disease. Individuals with ALS will typically have a multi-disciplinary care team including a neurologist, pulmonologist, psychologist, social worker and nursing team. Speech, occupational, and physical therapy are also typical for palliative care. Individuals with familial ALS may also have a genetics team caring for them and their family. There is a medication called riluzole (Rilutek), which is FDA-approved for the treatment of ALS. Riluzole has the best results when started early in the course of the disease and appears to slow the progression of ALS. Riluzole cannot reverse existing motor neuron damage.

Stem cells are cells that have not been specialized in their form or function and have the ability to become any tissue (brain, nerves, skin, red blood cells, muscle, etc.). There are two types of stem cells: embryonic stem cells and somatic (adult) stem cells. Many studies on how stem cells can benefit individuals with ALS are ongoing. One study manipulates stem cells in the lab into cells that secrete a growth factor called NeuroTrophic Factor (NTF), which helps keep nerve cells in the brain and spinal cord healthy and alive.

The ALS Association provides updates about ongoing research for ALS.

If a genetic condition has reduced penetrance, not everyone that has a significant change in these genes will develop the disease. If a genetic condition has variable expression, different individuals may develop different symptoms at different ages of onset, even if they are part of the same family or have the same genetic change. Many familial forms of amyotrophic lateral sclerosis (ALS) have high penetrance close to 100%. Patients with ALS can have different ages of onset and symptoms may progress at different rates and in somewhat different orders. However, regardless of initial symptoms, muscle breakdown and weakness will affect other muscles eventually.

Muscle disorders that affect the lower motor neurons usually present with fasciculation (muscle twitching), atrophy/weakness, and hyporeflexia (decreased reflexes). Muscle disorders that affect the upper motor neurons usually present with spasticity, weakness, and hyperreflexia (exaggerated reflexes). Amyotrophic lateral sclerosis is unique in that it involves the lower motor neurons and presents with hyperreflexia. Patients with amyotrophic lateral sclerosis are also still able to move their eyes.

Testing for amyotrophic lateral sclerosis (ALS) is not typically offered to individuals under the age of 18. Newborn screening, which specifically looks at specific genetic disorders in most newborns, does not include screening for ALS.

Amyotrophic lateral sclerosis is generally diagnosed using a combination of tests, including genetic testing, to confirm a diagnosis and help rule out other possible muscle wasting conditions.

Animal models are used to drive amyotrophic lateral sclerosis research. Animals are born with genes known to cause ALS so that scientists can find the reason for motor neuron death. Stem cells are a current target for treatment research.

ClinicalTrials.gov gives a list of clinical trials currently underway for amyotrophic lateral sclerosis (ALS). Clinical trials are also listed at Center Watch Patient Notification Service, the National Cancer Institute Search, and through the National Institutes of Health Service. The ALS Association also provides updates about ongoing research for ALS.

You may also find research or scientific articles at www.scholar.google.com by searching amyotrophic lateral sclerosis or ALS.

There are two types of amyotrophic lateral sclerosis (ALS): acquired and familial. People who have familial ALS develop the disease because they have inherited genetic changes that cause the disease. As a result, familial ALS cannot be prevented because we cannot control which genes we have. About 5-10% of ALS is familial. Most people who have ALS have the acquired type, meaning that it does not seem to be caused by a single genetic change and may be the result of environmental and other factors. It has been suggested that some environmental factors can make someone more likely to develop ALS. These environmental factors include exposure to heavy metals like mercury and lead, toxic/infectious agents like pesticides, specific types of head trauma, or occupational factors. There are also ongoing studies in United States veterans to determine if military-related exposures have contributed to ALS in that population. However, none of these has been conclusively demonstrated to be a significant cause of all sporadic ALS so there are no specific measures that can eliminate the risk for ALS altogether.

There are two types of amyotrophic lateral sclerosis (ALS): acquired and familial. 90-95% of people who have ALS have the acquired type, meaning that it does not seem to be caused by a single genetic change and may be the result of environmental and other factors. It has been suggested that some environmental factors can make someone more likely to develop ALS. These environmental factors include exposure to heavy metals like mercury and lead, toxic/infectious agents like pesticides, specific types of head trauma, or occupational factors. There are also ongoing studies in United States veterans to determine if military-related exposures have contributed to ALS in that population. However, none of these has been conclusively demonstrated to be a significant cause of all sporadic ALS so there are no specific measures that can eliminate the risk for ALS altogether.

No cure has been found for amyotrophic lateral sclerosis (ALS). The Food and Drug Administration (FDA) approved the drug riluzole (Rilutek) in 1995. Riluzole is believed to protect the motor neurons against damage and slow the progression of disease. It is suspected that this medication works by decreasing the levels of a chemical called glutamate in the brain. Clinical trials have shown that this drug can extend the life of someone with ALS by several months. It can also extend the time before ventilation support is needed for breathing.

New medications are emerging to help treat ALS. For information about clinical trials that may include drug therapy, visit [link url="www.clinicaltrials.gov” target=”_blank”>clinicaltrials.gov.

The ALS Association provides support for both patients with amyotrophic lateral sclerosis (ALS) and their caregivers:
http://www.alsa.org/als-care/?referrer=https://www.google.com/

There are two types of amyotrophic lateral sclerosis (ALS): acquired and familial. People who have familial ALS develop the disease because they have inherited genetic changes that cause the disease. About 5-10% of ALS is familial. Most people who have ALS have the acquired type, meaning that it does not seem to be caused by a single genetic change and may be the result of environmental and other factors.

There is not a specific genetic variant, or mutation, that causes the majority of amyotrophic lateral sclerosis (ALS). However, about 25-30% of familial ALS cases and a small percent of sporadic cases are caused by a specific type of genetic variation in the C9orf72 gene called a hexanucleotide repeat. The hexanucleotide repeat is a region which affected individuals have more repeated copies of the DNA sequence GGGGCC. More than 60 repeats of the GGGGCC sequence are generally considered to be disease-causing. The function of this gene is unknown. An additional 20% of familial ALS cases are caused by genetic variants in the SOD1 gene.

Your doctor should be able to rule out other neurodegenerative disorders and know the tests and treatment options available to you. Individuals with ALS will typically have a multi-disciplinary care team including a neurologist, pulmonologist, psychologist, social worker and nursing team. Speech, occupational, and physical therapy are also typical for palliative care. Individuals with familial ALS may also have a genetics team caring for them and their family. New research for ALS is allowing new drugs that can help with the progression of the disease.

Treatment for amyotrophic lateral sclerosis (ALS) should be continued throughout the patient’s lifetime. Riluzole may extend the life of patients with ALS and delay progression of symptoms. Other treatment such as physical therapy, speech therapy, and occupational therapy can help improve quality of life.

Changes in several genes have been reported to cause familial amyotrophic lateral sclerosis (ALS), which are inherited. ALS can be inherited in three different ways: autosomal dominant, autosomal recessive and X-linked dominant. In autosomal dominant forms of ALS only one of the two copies of the gene need to have a disease-causing change. Individuals with a parent with dominant ALS have a 50% chance to develop the disease. In the autosomal recessive forms of ALS, both copies of the gene must have a disease-causing change. Autosomal recessive cases only occur when both parents have a genetic variation and both pass it on to a child. In X-linked dominant ALS, both men and women are affected but the gene can not be passed from male to male.

Working with a nutritionist is important for people with amyotrophic lateral sclerosis (ALS). Speech therapists and nutritionists can help plan many small meals throughout the day that provide enough proper nourishment. It is important to avoid foods that are difficult to swallow. Suction devices can help remove excess fluids/saliva to prevent choking. Eventually a doctor may consider inserting a feeding tube into the stomach.

Nutritional support services and pulmonologists will work together to prevent swallowing and breathing complications.

Sleep assistance: The muscles that help with breathing will eventually begin to weaken in patients with amyotrophic lateral sclerosis (ALS). Machines can be used at night to help with breathing. Intermittent positive pressure ventilation (IPPV) or bi-level positive airway pressure (BIPAP) can be used to help breathe during sleep. These devices help inflate someone’s lungs by force.

Daytime assistance: The above mentioned devices can begin to be used full time. The NeuRx Diaphragm Pacing System is another option for some people with ALS, in which electrodes are implanted to cause the diaphragm (breathing muscle) to contract.

Full-time support: Mechanical ventilators (respirators) are machines that inflate and deflate a person’s lungs for them so they can breathe. A tube must go into the windpipe through the nose, mouth, or trachea (tracheostomy). This does not slow down the progression of ALS, but does allow patients to live longer.

Amyotrophic lateral sclerosis (ALS) can be difficult to diagnose because early signs and symptoms can look like other disorders that affect the nerves and muscles. Most people with ALS initially notice weakness in their hands and legs, slurred or unclear speech, trouble swallowing and muscle problems (twitching, cramping, stiffness or weakness). Your doctor can order tests, including a neurological examination and studies of the nerves and muscles, to rule out other conditions and confirm a diagnosis of amyotrophic lateral sclerosis.

Groups that accept donations for amyotrophic lateral sclerosis (ALS) include:
A life story: https://www.alifestoryfoundation.org/give/?gclid=CLDgoriJosoCFQ8taQodc20Efg
ALS Association: http://www.alsa.org/donate/
ALS Global Health Fund: https://www.donationplanet.org/fundraising/als-million-dollar-challenge/
ALS.net: https://www.als.net/donate/

A series of tests may be required to diagnose amyotrophic lateral sclerosis (ALS), since it may present in similar ways to other neuromuscular disorders. Studies may include:

ClinicalTrials.gov gives a list of clinical trials currently underway for amyotrophic lateral sclerosis (ALS). Clinical trials are also listed at Center Watch Patient Notification Service, the National Cancer Institute Search, and through the National Institutes of Health Service. The ALS Association also provides updates about ongoing research for ALS.

You may also find research or scientific articles at www.scholar.google.com by searching amyotrophic lateral sclerosis or ALS.

The ALS association has an extensive list of center of excellence for amyotrophic lateral sclerosis: http://webfl.alsa.org/site/PageNavigator/FL_8_Clinics.html

For every 100,000 people, approximately 4-8 have amyotrophic lateral sclerosis (ALS). This seems to be the same around the world, with the exception of specific groups in Guam, a country in the South Pacific, and the Kii Peninsula of Japan. These regions have a higher rate of a type of ALS called ALS-parkinsonism-dementia complex (ALS-PDC), which is a rare, hereditary form.

As amyotrophic lateral sclerosis (ALS) progresses, muscles start to weaken and stiffen. This can cause pain to the patient. Range of motion exercises and stretches through physical therapy can help with muscle pain and prevent the formation of contractures (excessive tightening of muscle).

Amyotrophic lateral sclerosis (ALS) can be seen as a juvenile-onset disorder. Juvenile-onset ALS is a term that is given to individuals with ALS who are diagnosed from adolescence to age 25 and generally have a family history. Juvenile and adult-onset ALS have a similar clinical progression but juvenile ALS tens to progress more slowly. The needs of a child with ALS will be similar to those of an adult, although a support and medical team that has experience with younger individuals is valuable. Depending on age of onset, support in addressing special education needs may also be required.

Either blood or saliva can be provided for DNA testing, depending on the lab that will be used for testing. Biopsy is not typically offered as part of diagnostic testing for amyotrophic lateral sclerosis (ALS).

People of all races, ages, and ethnic backgrounds can all be affected, but amyotrophic lateral sclerosis (ALS) is generally more common among white males, non-Hispanics, and people age 60-69. Men are more affected than women. There are also certain familial forms of ALS that are more common in specific populations due to a higher frequency of specific genetic variants in those countries. The incidence of an ALS/parkinsonism/dementia complex is higher in Guam.

People with amyotrophic lateral sclerosis (ALS) will need physical, speech, and occupational therapy and the frequency may increase as the disease progresses. It is also important to have a nutritionist monitor food intake so to avoid malnourishment and to avoid complications related to swallowing difficulties. Most patients with ALS will eventually have a feeding tube to make sure they are getting adequate nutrition.

Males with X-linked amyotrophic lateral sclerosis (ALS), most often due to variants in the UBQLN2 gene have a much earlier age of onset and more rapid progression than females with X-linked ALS.

Infertility has not been described in people with amyotrophic lateral sclerosis (ALS). Due to the typical age of diagnosis, many adults with ALS have already had children and are past their childbearing years. For individuals who are diagnosed at younger ages, as long as they are still physically able, adults with ALS can have children. Women who are considering pregnancy should consult with a high-risk pregnancy specialist and their medical care team to determine if any medications or therapies given for ALS could impact a fetus.

Depending on the genetic cause of their disease and the family history, individuals with familial ALS may have a risk to have a child with the condition. If there is a concern about passing that genetic risk on, there are a couple options for family planning. One option is to adopt or use a sperm or egg donor instead of the genetic material from the parent with the condition. Another option is to have biological children, and know that there is a risk that each child could inherit this mutation. A final option, if you know the gene change causing ALS in the family, is having in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). Through the process of PGD, embryos can be checked to see if they contain the mutation causing ALS in the family or not, and only embryos that do not contain the mutation will be implanted in the mother.

Treatment is managed as symptoms change. As the disease progresses, patients typically need more treatment and more support. No changes to your medications or treatments should be made without the advise of a physician.

There are drugs that interact with riluzole and some people may not be able to take the medication due to other health or medical issues. Individuals who are considering this medication should consult with their physician. Commonly reported side effects of riluzole include weakness and nausea. More serious side effects have been reported and include:

More common:
Blurred vision
difficulty with breathing
difficulty with moving
dizziness
excessive muscle tone
headache
increased cough
muscle pain or stiffness
muscle tension or tightness
nervousness
pain in the joints
pounding in the ears
slow or fast heartbeat

Less common:
Bladder pain
bloating or swelling of the face, arms, hands, lower legs, or feet
bloody or cloudy urine
bluish lips or skin
burning while urinating
changes in skin color
chest congestion
chest pain
chills
cold sweats
confusion
dizziness, faintness, or lightheadedness when getting up suddenly from a lying or sitting position
cough
cough producing mucus
diarrhea
difficult, burning, or painful urination
difficult or labored breathing
difficulty with swallowing
fast, pounding, or irregular heartbeat or pulse
fever
frequent urge to urinate
general feeling of discomfort or illness
headache
increased sputum
loss of appetite
low blood pressure or pulse
lower back or side pain
muscle aches and pains
nausea
pain
rapid weight gain
runny nose
shivering
shortness of breath
slow breathing
sneezing
sore throat
sweating
tenderness
tightness in the chest
tingling of the hands or feet
trouble sleeping
troubled breathing
unconsciousness
unusual tiredness or weakness
unusual weight gain or loss
vomiting
wheezing

Rare:
Continuing sores in the mouth
convulsions
increased thirst
lack of coordination
lack of energy
mental depression
mood or mental changes
muscle cramps, pain, or weakness
pain, tenderness, bluish color, or swelling of the foot or leg
redness, scaling, or peeling of the skin
swelling of the eyelids, mouth, lips, tongue, or throat
swelling of the face
yellow eyes or skin

Patients with amyotrophic lateral sclerosis (ALS) typically require the use of a wheelchair shortly after the first signs of disease. Patients with ALS gradually lose their ability to move their arms and legs and gradually lose the ability to swallow and control their breathing. Patients with ALS eventually will need a feeding tube and breathing support.

Physical therapy, speech therapy, and occupational therapy can help improve quality of life of individuals with amyotrophic lateral sclerosis (ALS). Gentle, low impact exercise such as walking, swimming, and stationary cycling can strengthen unaffected muscles and improve cardiovascular health. Nutritional support is also important for patients with ALS. Some patients can develop pain, depression, sleep disturbances, and constipation. Additional medication may be needed to treat these additional symptoms as they are seen.

Amyotrophic lateral sclerosis (ALS) is also called:

The ALS Association has an in-depth search engine for Amyotrophic Lateral Sclerosis support groups. Look for support groups in your state by visiting: http://www.alsa.org/community/support-groups/
NORD (National Organization for Rare Diseases) also has many support group options available at: http://rarediseases.org/rare-diseases/amyotrophic-lateral-sclerosis/

Amyotrophic lateral sclerosis (ALS) can be seen as a juvenile-onset disorder. Juvenile-onset ALS is a term that is given to individuals with ALS who are diagnosed before age 25 and generally have a family history. Individuals who have variants in the SETX gene have a slowly progressive disease with onset in adolescence.

About 5% of individuals with ALS, regardless of family history, also have have frontotemporal dementia (FTD). Features of FTD include cognitive deficits in attention, abstraction, planning, and problem solving. Individuals with variants in the C9orf72 and CHCHD10 genes have been reported with ALS/FTD.

The signs and symptoms of sporadic and familial amyotrophic lateral sclerosis (ALS) are the same. However, people with familial, or inherited, ALS often have signs and symptoms at an earlier age than people with sporadic ALS. The mean age of onset is 56 years in individuals with no known family history (sporadic ALS) and 46 years in individuals with more than one affected family member (familial ALS or FALS).

Most people with amyotrophic lateral sclerosis (ALS) initially notice weakness in their hands and legs, slurred or unclear speech, trouble swallowing or chewing and muscle problems (twitching, cramping, stiffness or weakness). Late symptoms of amyotrophic lateral sclerosis (ALS) include generalized muscle weakness and atrophy (muscle wasting), increasing problems with moving, swallowing, and speaking, exaggerated reflexes (hyperreflexia), and an overactive gag reflex. People with ALS eventually lose the ability to stand/walk, get in/out of bed on their own, and use their hands/arms. A small percentage of people may have trouble with memory or decision making. About 5% of individuals with ALS, regardless of family history, have frontotemporal dementia (FTD). The average duration of disease is three years, but it can vary significantly. Most people with ALS die because the muscles that control their breathing are compromised.

It is still unknown what causes amyotrophic lateral sclerosis (ALS). Research is trying to understand how and why motor neurons die in ALS. Scientists are looking at the genes that are known to cause ALS and force mutations in animals to help with this understanding. New treatment using stem cells are also being tested.

Another recent discovery involves two proteins that seem to work together. TDP-43 and FUS/TLS have similar structure and function and seem to work together to make sure motor neurons can survive long-term. The ALS Association also provides updates about ongoing research for ALS.

It is thought that there are environmental factors that can cause amyotrophic lateral sclerosis (ALS). These environmental factors include exposure to heavy metals like mercury and lead, toxic/infectious agents like pesticides, specific types of head trauma, or occupational factors. There are also ongoing studies in United States veterans to determine if military-related exposures have contributed to ALS in that population. However, none of these has been conclusively demonstrated to be a significant cause of all sporadic ALS.

February 28th is Rare Disease Day. People affected by rare diseases such as amyotrophic lateral sclerosis (ALS) and their families participate. There are many opportunities to get involved:
http://www.rarediseaseday.org/

Amyotrophic lateral sclerosis usually does not affect bowel or bladder control, senses, mood, and eye movement.

If an individual has a familial form of amyotrophic lateral sclerosis (ALS), their children may be at risk. The specific risk depends on what gene contains the variant causing the disease. For individuals who have an autosomal dominantly-inherited type of ALS, their children have a 50% chance to inherit the same variant and develop the disease. For individuals who have an autosomal recessively-inherited type of ALS, their children will all inherit one copy of a disease-causing variant but are only at risk to develop the disease if they also inherit a variant from their other parent. For individuals who have an X-linked type of ALS, the chance for a child to inherit the variant depends on their gender and the gender of the affected parent, but no male to male transmission can occur.

Many neurodegenerative disorders seem similar in their earlier stages. Studies that can rule out conditions that are similar to amyotrophic lateral sclerosis (ALS) other similar conditions include imaging of brain and/or spinal cord (MRI), blood studies (e.g. CBC, serum concentration of vitamin B12, lead, and TSH), studies of the cerebral spinal fluid (the fluid in the spinal cord that surrounds the nerves) to rule out infection or multiple sclerosis and muscle and/or nerve biopsy.

There are specific hereditary and acquired disorders that are similar to ALS.

Hereditary disorders include:
Spinal and bulbar muscular atrophy (SBMA, Kennedy disease)
ALS8 (also known as SMAIV or Finkel type SMA)
Distal hereditary motor neuronopathy type VIIB
Primary lateral sclerosis (PLS)
Hereditary spastic paraplegia (HSP)
Hexosaminadase A deficiency
Adult polyglucosan body disease
BSCL2-related neurologic disorders

Acquired disorders include:
cervical spine disease
brain stem or spinal cord tumors
thyroid disorders
lead poisoning
vitamin B12 deficiency
multiple sclerosis
paraneoplastic syndrome with occult cancer
motor neuropathies
myasthenia gravis
myasthenic syndrome
inclusion body myositis