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What is Amyotrophic Lateral Sclerosis?

Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease caused by the degeneration of motor neurons.

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Description

Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease caused by the degeneration of motor neurons.

Acknowledgement

Acknowledgement of Amyotrophic Lateral Sclerosis has not been added yet.

Prevalence

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Synonyms

Synonyms for Amyotrophic Lateral Sclerosis has not been added yet.

Cause

Most individuals have a non-inherited sporadic form of ALS, but there is a small 5-10% of individuals who have familial ALS. This disease is caused by mutations in any of the following genes: C9orf72, SOD1, TARDBP, FUS, ANG, ALS2, SETX, and VAPB, where the inheritance patterns of these genes differ. The most common inheritance pattern of ALS is autosomal dominant.

Symptoms

Early symptoms of ALS such as muscle twitching, cramping, stiffness, and weakness are usually overlooked. However, symptoms may progress to slurred speech and difficulty chewing and swallowing (dysphagia). As ALS progresses, communication skills worsen, muscle strength decreases, and muscle tissue lose mass (atrophy), rendering individuals unable to use their hands and limbs for functions such as walking. Around 20% of individuals with ALS also develop frontotemporal dementia, which is a progressive brain disorder that affects personality, behaviour, and language. Ultimately, individuals with ALS die of respiratory failure.

Diagnosis

ALS is diagnosed with the loss of motor neurons with intraneuronal ubiquitin-immunoreactive inclusions in upper motor neurons and TDP-43 immunoreactive inclusions in degenerating lower motor neurons.

Diagnostic Test

Diagnostic tests of Amyotrophic Lateral Sclerosis has not been added yet

Treatment

There is current no treatment available for ALS. However, ALS can be managed through relieving an individual of symptoms. Riluzole is the first drug approved by The Food and Drug Administration (FDA) that can prolong survival for 3-5 months. It cannot, however, delay the loss of motor neurons.

Prognosis

Prognosis of Amyotrophic Lateral Sclerosis has not been added yet.

Tips or Suggestions

Name	Description
isisRGIIntern	Due to dysphagia, eating may become a problem. However, adequate nutrition and fluids can be obtained with use of a gastric feeding tube and vitamin therapy. Physical therapy would also help maintain joint flexibility and prevent muscle contractures. Communication devices such as artificial speech articulation, “The Talking Board”, and the “Etran Board” would be useful for people who have lost their ability to speak.

References

References of Amyotrophic Lateral Sclerosis has not been added yet.

contact Created by asmnm
Last updated 18 Oct 2008, 08:53 PM

Posted by asmnm
18 Oct 2008, 08:53 PM

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Community External News Link

Title	Date	Link
Could This Radical New Approach to Alzheimer’s Lead to a Breakthrough?	02/10/2019
25-year-old faces rare form of ALS that took her twin, but experimental drug offers hope	06/22/2019
Apic Bio’s APB-102 Receives Orphan Drug Designation from the FDA for the Treatment of Genetic SOD1 ALS	07/23/2019

Community Resources

Title	Description	Date	Link
ALS Therapy Development Institute	The ALS Therapy Development Institute is a nonprofit biotechnology company discovering treatments for patients alive today. Our approach combines the power of a nonprofit mission with the best practices of a for-profit biotechnology company: rigorous, open-minded research and proven drug development techniques.	03/20/2017
The ALS Association	The ALS Association relentlessly pursues its mission to help people living with ALS and to leave no stone unturned in search for the cure of the progressive neurodegenerative disease that took the life and name of Baseball Legend Lou Gehrig.	03/20/2017

Clinical Trials

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

Complete the screening form.
Review the informed consent.
Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.