What is Lou Gehrig’s Disease (ALS)?
Lou Gehrig’s disease, also often referred to as ALS, is debilitating, degenerative, and incurable. There are, fortunately, several options that patients could try in an effort to manage the progression of this disease.
Amyotrophic Lateral Sclerosis (ALS) is commonly known as Lou Gehrig’s disease. It is sometimes also referred to as Motor Neurone Disease (MND). It is a disorder of the motor neurons and leads to muscle spasticity and atrophy, difficulty with speaking and swallowing, trouble with breathing, and progressive weakness. All voluntary movement can cease due to the degeneration of the upper and lower motor neurons and muscle weakness. The parts of the body which are often spared in ALS are bowel, bladder, and eye control, as well as cognitive functioning. The autonomic nervous system and sensory nerves are also typically not affected. This means that ALS patients can still hear, see, smell, touch, and taste despite the degeneration in other areas of the body.
Symptoms start with muscle atrophy and weakness as well as stiffness, cramping, twitching, and slurred speech. The limbs may show evidence of the onset first through symptoms such as awkwardness, tripping, a “dropped foot”, or trouble with manual dexterity, for example. Other patients may have a “bulbar onset”, with swallowing and speech problems. Some patients may have “pseudobulbar affect”, where uncontrollable emotional outbursts occur. No matter how the disease starts or spreads, patients will generally all be unable to use their limbs, speak, swallow, and breathe properly on their own as the disease progresses and affects many of the body’s functions.
Most ALS patients will end up dying from pneumonia or respiratory failure. Lou Gehrig’s disease, progresses, generally, within the frame of time of about 39 months. Rarely do patients live longer than 10 years once the disease has begun. Stephen Hawking, a physicist and an outlier of the lifespan of those with Lou Gehrig’s disease, was able to live for over 50 years with the disease.1
ALS tends to run in families. There are several genetic mutations that are thought to be associated with ALS types. Occurrences such as mutations in a gene that produces a particular enzyme (SOD1), an antioxidant that protects from free radical damage, may be linked to the disease.
90% of the cases of Lou Gehrig’s disease actually do not show evidence of a familial link. Patients most often having no family history and the cause being evident from an alternative source or entirely unknown. There are many suggested causes of ALS other than a family history. This includes cases where patients have served military service, engaged in contact sports, or suffered from head trauma. American football, which often involves a lot of forceful contact and injuries could be one major contributor to cases where ALS has developed as a result of physical trauma. Blue-green algae contamination of food can also be a potential factor in the development of the disease. Many ALS patients also show evidence of having more glutamate present in their spinal fluid. Glutamate is a neurotransmitter in the brain.2
While many factors are being explored in their links to ALS, there is new research that suggested that there may be a common cause to all of the variants of Lou Gehrig’s disease. Northwestern University researchers have found that patients with inherited and non-inherited ALS share the presence of a defect in a protein system (ubiquilin2) which leaves the system unable to repair any damage done to the nerve cells which tell the muscles what to do. When ubiquilin2 is unable to perform this type of important function, then damaged proteins are left unchecked to build up in the spinal cord and brain. These accumulated proteins are described as looking like twisted balls of yarn.3
Treatment and Support
There is no cure or treatment of ALS that can reverse or stop the disease. There is only one medication, riluzole, that can slow the inevitable progression of ALS. Patients can also have support therapies to help them maintain some independence for as long as physically possible and “prolong survival”.4 The teams of health care professionals that can support ALS patients include those who have been professionally trained as physical, speech, and occupational therapists, nutritionists, and hospice care. Physicians might prescribe various medications to ease symptoms. Pharmacists can assist in monitoring drug interactions to make sure that no medications that the patient is taking interact in a manner where they would work badly each other.
Some regular exercises, such as walking, stationary cycling, and swimming can help. Having the patient follow routines of range of motion stretches and exercises can also help. Patients may also require a BIPAP machine or other respiratory assistance, or even a tracheostomy (a breathing tube inserted into the windpipe).5
Learn more about Creutzfeldt-Jakob disease.