What is ALS?

ALS-Illustration

“Neighborhood” model of ALS induced cell death leading to motor neuron degeneration and a rapid decline in control of voluntary muscle movement. (2)

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a neurodegenerative disease characterized by progressive muscular paralysis caused by degeneration of motor neurons.

ALS leads to the brain’s progressive loss of ability to initiate and control muscle movement of voluntary muscles as motor neurons die.  Muscle weakness is an early symptom of the disease affecting the limbs, speech abilities, and the ability to breathe and swallow.  Muscles begin to atrophy as function diminishes leading to muscular wasting.  Paralysis may occur at later stages of the disease.   Often, death results from respiratory failure due to the inability of motor neurons needed for the voluntary components of respiration to function.

Cases of ALS can be sporadic or familial.  Scientists have discovered gene mutations associated with familial cases.  Gene mutations have been identified in some sporadic cases.

ALS can lead to death 2-3 years following onset for those who first notice difficulty speaking clearly or swallowing referred to as “bulbar onset” and 3-5 years for those who first notice symptoms in their limbs, “limb onset”.

The incidence (the number of new cases) of ALS is estimated at 1 case per 50,000 persons each year.  The prevalence of ALS (the number of persons currently living with the disease) is estimated at 1 case per 20,000 persons.  As treatment of ALS improves, resulting in the delay of more severe symptoms which lead to death, the prevalence of ALS will increase.

Currently, there is no known cure for ALS.  However, Riluzole is an FDA approved drug that can be used to slow the progression of the disease.  Several other drugs are in the clinical trial phase of development.

How is ALS diagnosed?

The diagnosis is based on clinical history, examination, electromyography, and exclusion of ALS-like diseases. The pathological hallmarks include loss of motor neurons with intraneuronal ubiquitin-immunoreactive inclusions in upper motor neurons and TDP-43 immunoreactive inclusions in degenerating lower motor neurons. Signs of upper motor neuron and lower motor neuron damage not explained by any other disease process are suggestive of ALS.(1)

How is ALS currently treated?

There is currently no cure for ALS.  The management of ALS is supportive, palliative, and multidisciplinary. Non-invasive ventilation prolongs survival and improves quality of life. Riluzole is the only drug that has been shown to extend survival.(1)

ALS Organizations

Project A.L.S. is a non-profit started by 3 sisters following the diagnosis of one sister, Jenifer Estess.  Project A.L.S. identifies and funds the most promising scientific research that will lead to the first effective treatments and a cure for ALS.

Kids4Cure is an ALS organization started by two brothers following the diagnosis of their mother.  Their goal is to raise money and awareness for ALS in hopes of finding a cure.

The ALS Association is a national non-profit organization.  Their mission is to lead the fight to treat and cure ALS through global research and nationwide advocacy while also empowering people with ALS and their families to live fuller lives by providing them with compassionate care and support.

How can you help?

Donate to the Center To Cure to help support rare disease communities such as ALS.